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    GTDC1 glycosyltransferase like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79712, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GTDC1provided by HGNC
    Official Full Name
    glycosyltransferase like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20887
    See related
    Ensembl:ENSG00000121964 MIM:610165; AllianceGenome:HGNC:20887
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    QTMAN; mat-Xa; Hmat-Xa
    Summary
    Enables tRNA-queuosine(34) beta-mannosyltransferase activity. Involved in regulation of translation and tRNA modification. Located in nucleus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 3.1), fat (RPKM 2.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTDC1 in Genome Data Viewer
    Location:
    2q22.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (143938068..144333069, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (144386085..144781108, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (144695635..145090636, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 15 Neighboring gene uncharacterized LOC101928361 Neighboring gene ARHGAP15 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:144419424-144419959 Neighboring gene NANOG hESC enhancer GRCh37_chr2:144486483-144487103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144537063-144537656 Neighboring gene MPRA-validated peak3890 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144649008-144649513 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:144649514-144650018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144664226-144664784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144694058-144694741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11990 Neighboring gene uncharacterized LOC101928386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16601 Neighboring gene MPRA-validated peak3893 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:145025446-145026228 Neighboring gene Sharpr-MPRA regulatory region 4867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145045189-145045690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145048337-145048837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145090135-145090712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145114539-145115052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16603 Neighboring gene skeletal muscle cis-regulatory module overlapping ZEB2 Neighboring gene Sharpr-MPRA regulatory region 3137 Neighboring gene VISTA enhancer hs407 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:145236544-145237256 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145267859-145268774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145274915-145275416 Neighboring gene zinc finger E-box binding homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1412 Neighboring gene long intergenic non-protein coding RNA 2993 Neighboring gene ZEB2 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library. Zhao E, et al. DNA Cell Biol, 2004 Mar. PMID 15068588
    2. Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. Igo RP Jr, et al. Genes Immun, 2019 Jul. PMID 30100616, Free PMC Article
    3. Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914. Shimono N, et al. Biosci Biotechnol Biochem, 2011. PMID 21821951
    4. Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders. Aksoy I, et al. Hum Mol Genet, 2017 Jan 15. PMID 28365779
    5. Glycosylated queuosines in tRNAs optimize translational rate and post-embryonic growth. Zhao X, et al. Cell, 2023 Dec 7. PMID 37992713

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genomewide linkage scan by a targeted, high-density association scan for genetic variants enhancing persistently negative tuberculin skin test (PTST) in two independent Ugandan tuberculosis household cohorts. Association found with SNPs in neighboring genes ZEB2 and GTDC1 supported by both samples. Bioinformatic analysis suggests these variants may affect PTST- by regulating the histone deacetylase pathway.
      Title: Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants.
    2. By deriving iPSCs from this patient and differentiating them into neural progenitor cells (NPCs) and neurons we dissected the disease process at the cellular level and observed defects in both NPCs and neuronal cells. We also showed that disruption of GTDC1 expression in wild type human NPCs and neurons showed a similar phenotype as patient's iPSCs
      Title: Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.
    3. The elevated expression of the Hmat-Xa gene (GTDC1) might serve as a candidate marker for colon adenocarcinoma.
      Title: Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human mannosyltransferase-like gene, that is homologous to drosophila gene GC15914.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.
    6. relatively high expression level in the adult lung, spleen, testis, and peripheral blood leukocyte.
      Title: Cloning and expression of human GTDC1 gene (glycosyltransferase-like domain containing 1) from human fetal library.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA-queuosine(34) beta-mannosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tRNA-queuosine alpha-mannosyltransferase
    Names
    glycosyltransferase-like 1
    glycosyltransferase-like domain-containing protein 1
    mannosyltransferase candidate
    mannosyltransferase-like protein Xa
    NP_001006637.1
    NP_001158101.1
    NP_001271162.1
    NP_001271163.1
    NP_001271164.1
    NP_001271167.1
    NP_001341279.1
    NP_001341280.1
    NP_001341281.1
    NP_001341282.1
    NP_001341283.1
    NP_001341284.1
    NP_001341285.1
    NP_001341287.1
    NP_001341289.1
    NP_001341290.1
    NP_001341291.1
    NP_001363235.1
    NP_001363236.1
    NP_001363237.1
    NP_001363238.1
    NP_001363239.1
    NP_001363240.1
    NP_001363241.1
    NP_001363242.1
    NP_001363243.1
    NP_001363244.1
    NP_001363245.1
    NP_001363246.1
    NP_001363247.1
    NP_001363248.1
    NP_001363249.1
    NP_001363250.1
    NP_001363251.1
    NP_001363252.1
    NP_001363253.1
    NP_001363254.1
    NP_001363255.1
    NP_001363256.1
    NP_001363257.1
    NP_001363258.1
    NP_001363259.1
    NP_001363260.1
    NP_001363261.1
    NP_078935.2
    XP_011510157.1
    XP_011510158.1
    XP_024308913.1
    XP_047301797.1
    XP_047301798.1
    XP_047301799.1
    XP_047301800.1
    XP_047301801.1
    XP_047301802.1
    XP_047301803.1
    XP_054199899.1
    XP_054199900.1
    XP_054199901.1
    XP_054199902.1
    XP_054199903.1
    XP_054199904.1
    XP_054199905.1
    XP_054199906.1
    XP_054199907.1
    XP_054199908.1
    XP_054199909.1
    XP_054199910.1
    XP_054199911.1
    XP_054199912.1
    XP_054199913.1
    XP_054199914.1
    XP_054199915.1
    XP_054199916.1
    XP_054199917.1
    XP_054199918.1
    XP_054199919.1
    XP_054199920.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001006636.5 → NP_001006637.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      See identical proteins and their annotated locations for NP_001006637.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 3, 12, 18, and 21-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Related
      ENSP00000386581.1, ENST00000409214.5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    2. NM_001164629.5 → NP_001158101.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      See identical proteins and their annotated locations for NP_001158101.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 12, 18, and 21-29 all encode the same isoform (a).
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Related
      ENSP00000438323.1, ENST00000542155.5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    3. NM_001284233.4 → NP_001271162.1  tRNA-queuosine alpha-mannosyltransferase isoform c

      See identical proteins and their annotated locations for NP_001271162.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has a shorter 5' UTR, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a. Variants 4, 17, 32, and 33 all encode the same isoform (c).
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS63029.1
      UniProtKB/Swiss-Prot
      Q4AE62
      Related
      ENSP00000241391.6, ENST00000241391.9
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    4. NM_001284234.3 → NP_001271163.1  tRNA-queuosine alpha-mannosyltransferase isoform d

      See identical proteins and their annotated locations for NP_001271163.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Variants 5 and 9 both encode the same isoform (d).
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS74582.1
      UniProtKB/Swiss-Prot
      Q4AE62
      Related
      ENSP00000437964.1, ENST00000463875.6
      Conserved Domains (2) summary
      COG0438
      Location:147 → 321
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam12038
      Location:1 → 35
      DUF3524; Domain of unknown function (DUF3524)

    5. NM_001284235.2 → NP_001271164.1  tRNA-queuosine alpha-mannosyltransferase isoform e

      See identical proteins and their annotated locations for NP_001271164.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' and 3' UTRs, and lacks several exons in the 3' coding region but has an alternate 3' terminal exon, compared to variant 1. The encoded isoform (e) is shorter at the C-terminus, compared to isoform a. Variants 6, 14, 16, and 44 all encode the same isoform (e).
      Source sequence(s)
      AC009957, AC010130, AC010681
      UniProtKB/Swiss-Prot
      Q4AE62
      Related
      ENST00000491448.5
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    6. NM_001284238.3 → NP_001271167.1  tRNA-queuosine alpha-mannosyltransferase isoform f

      See identical proteins and their annotated locations for NP_001271167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (f) has a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS74583.1
      UniProtKB/Swiss-Prot
      Q4AE62
      Related
      ENSP00000484990.1, ENST00000618778.4
      Conserved Domains (2) summary
      COG0438
      Location:244 → 418
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam12038
      Location:24 → 132
      DUF3524; Domain of unknown function (DUF3524)

    7. NM_001354350.2 → NP_001341279.1  tRNA-queuosine alpha-mannosyltransferase isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 13 and 43, encodes isoform g.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (1) summary
      cd01635
      Location:135 → 247
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    8. NM_001354351.2 → NP_001341280.1  tRNA-queuosine alpha-mannosyltransferase isoform d

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS74582.1
      Conserved Domains (2) summary
      COG0438
      Location:147 → 321
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam12038
      Location:1 → 35
      DUF3524; Domain of unknown function (DUF3524)

    9. NM_001354352.2 → NP_001341281.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 19 and 39-42, encodes isoform h.
      Source sequence(s)
      AC009957, AC010130, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    10. NM_001354353.2 → NP_001341282.1  tRNA-queuosine alpha-mannosyltransferase isoform i

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC016910
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    11. NM_001354354.2 → NP_001341283.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    12. NM_001354355.3 → NP_001341284.1  tRNA-queuosine alpha-mannosyltransferase isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 8 and 43, encodes isoform g.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (1) summary
      cd01635
      Location:135 → 247
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    13. NM_001354356.2 → NP_001341285.1  tRNA-queuosine alpha-mannosyltransferase isoform e

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    14. NM_001354358.1 → NP_001341287.1  tRNA-queuosine alpha-mannosyltransferase isoform e

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010681
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    15. NM_001354360.2 → NP_001341289.1  tRNA-queuosine alpha-mannosyltransferase isoform c

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS63029.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    16. NM_001354361.1 → NP_001341290.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Related
      ENSP00000339750.4, ENST00000344850.8
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    17. NM_001354362.3 → NP_001341291.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 10 and 39-42, encodes isoform h.
      Source sequence(s)
      AC009957, AC010130, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    18. NM_001376306.2 → NP_001363235.1  tRNA-queuosine alpha-mannosyltransferase isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) encodes the longest isoform (j).
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (2) summary
      cd01635
      Location:336 → 448
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    19. NM_001376307.2 → NP_001363236.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variants 1, 3, 12, 18, and 22-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    20. NM_001376308.2 → NP_001363237.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variants 1, 3, 12, 18, 21, and 23-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    21. NM_001376309.2 → NP_001363238.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23), as well as variants 1, 3, 12, 18, 21, 22, and 24-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    22. NM_001376310.2 → NP_001363239.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24), as well as variants 1, 3, 12, 18, 21-23, and 25-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    23. NM_001376311.2 → NP_001363240.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25), as well as variants 1, 3, 12, 18, 21-24, and 26-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    24. NM_001376312.2 → NP_001363241.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26), as well as variants 1, 3, 12, 18, 21-25, and 27-29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Related
      ENSP00000507713.1, ENST00000682281.1
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    25. NM_001376313.2 → NP_001363242.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 1, 3, 12, 18, 21-26, 28, and 29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    26. NM_001376314.2 → NP_001363243.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28), as well as variants 1, 3, 12, 18, 21-27, and 29, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    27. NM_001376315.2 → NP_001363244.1  tRNA-queuosine alpha-mannosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29), as well as variants 1, 3, 12, 18, and 21-28, encodes isoform a.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS33300.1
      UniProtKB/Swiss-Prot
      A0A087X2H5, A8K5P2, D3DP81, G1UFN1, G5EA49, H7BYJ5, Q4AE62, Q53SM7, Q53TC5, Q6P7E7, Q6PJB6, Q6WKW6, Q9HAE5
      Conserved Domains (2) summary
      cd01635
      Location:287 → 399
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    28. NM_001376316.2 → NP_001363245.1  tRNA-queuosine alpha-mannosyltransferase isoform k

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (2) summary
      cd01635
      Location:290 → 398
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    29. NM_001376317.2 → NP_001363246.1  tRNA-queuosine alpha-mannosyltransferase isoform l

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    30. NM_001376318.2 → NP_001363247.1  tRNA-queuosine alpha-mannosyltransferase isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (32), as well as variants 4, 17, and 33, encodes isoform c.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS63029.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    31. NM_001376319.2 → NP_001363248.1  tRNA-queuosine alpha-mannosyltransferase isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (33), as well as variants 4, 17, and 32, encodes isoform c.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS63029.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    32. NM_001376320.2 → NP_001363249.1  tRNA-queuosine alpha-mannosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (34), as well as variants 2 and 35-38, encodes isoform b.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    33. NM_001376321.2 → NP_001363250.1  tRNA-queuosine alpha-mannosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (35), as well as variants 2, 34, and 36-38, encodes isoform b.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    34. NM_001376322.2 → NP_001363251.1  tRNA-queuosine alpha-mannosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (36), as well as variants 2, 34, 35, 37, and 38, encodes isoform b.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    35. NM_001376323.2 → NP_001363252.1  tRNA-queuosine alpha-mannosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (37), as well as variants 2, 34, 35, 36, and 38, encodes isoform b.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    36. NM_001376324.2 → NP_001363253.1  tRNA-queuosine alpha-mannosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (38), as well as variants 2 and 34-37, encodes isoform b.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    37. NM_001376325.2 → NP_001363254.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (39), as well as variants 10, 19, and 40-42, encodes isoform h.
      Source sequence(s)
      AC009957, AC010130, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    38. NM_001376326.2 → NP_001363255.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (40), as well as variants 10, 19, 39, 41, and 42, encodes isoform h.
      Source sequence(s)
      AC009957, AC010130, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    39. NM_001376327.2 → NP_001363256.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (41), as well as variants 10, 19, 39, 40, and 42, encodes isoform h.
      Source sequence(s)
      AC009957, AC010130, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    40. NM_001376328.1 → NP_001363257.1  tRNA-queuosine alpha-mannosyltransferase isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (42), as well as variants 10, 19, and 39-41, encodes isoform h.
      Source sequence(s)
      AC009957, AC016910
      Consensus CDS
      CCDS86884.1
      UniProtKB/TrEMBL
      B8ZZ45
      Related
      ENSP00000386691.1, ENST00000409298.5
      Conserved Domains (2) summary
      cd01635
      Location:173 → 281
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    41. NM_001376329.2 → NP_001363258.1  tRNA-queuosine alpha-mannosyltransferase isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (43), as well as variants 8 and 13, encodes isoform g.
      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910
      Conserved Domains (1) summary
      cd01635
      Location:135 → 247
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

    42. NM_001376330.1 → NP_001363259.1  tRNA-queuosine alpha-mannosyltransferase isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (44), as well as variants 6, 14, and 16, encodes isoform e.
      Source sequence(s)
      AC009957, AC010130, AC010681
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    43. NM_001376331.2 → NP_001363260.1  tRNA-queuosine alpha-mannosyltransferase isoform m

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC016910
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    44. NM_001376332.2 → NP_001363261.1  tRNA-queuosine alpha-mannosyltransferase isoform n

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC016910
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    45. NM_024659.6 → NP_078935.2  tRNA-queuosine alpha-mannosyltransferase isoform b

      See identical proteins and their annotated locations for NP_078935.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and lacks two alternate exons that result in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 34-38 all encode the same isoform (b).
      Source sequence(s)
      AC009957, AC010681, AC016910
      Consensus CDS
      CCDS2185.1
      UniProtKB/Swiss-Prot
      Q4AE62
      Related
      ENSP00000376606.3, ENST00000392867.7
      Conserved Domains (1) summary
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    RNA

    1. NR_148872.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010681, AC016910

    2. NR_164799.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    3. NR_164800.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    4. NR_164801.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    5. NR_164802.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    6. NR_164803.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    7. NR_164804.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    8. NR_164805.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    9. NR_164806.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    10. NR_164807.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC016910

    11. NR_164808.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC016910

    12. NR_164809.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009957, AC010130, AC010681, AC016910

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      143938068..144333069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445841.1 → XP_047301797.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    2. XM_047445843.1 → XP_047301799.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    3. XM_047445842.1 → XP_047301798.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    4. XM_047445844.1 → XP_047301800.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    5. XM_011511855.4 → XP_011510157.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

      See identical proteins and their annotated locations for XP_011510157.1

      Conserved Domains (2) summary
      cd01635
      Location:336 → 448
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:2 → 164
      DUF3524; Domain of unknown function (DUF3524)

    6. XM_024453145.2 → XP_024308913.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

      Conserved Domains (2) summary
      cd01635
      Location:304 → 416
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:24 → 132
      DUF3524; Domain of unknown function (DUF3524)

    7. XM_011511856.4 → XP_011510158.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

      Conserved Domains (2) summary
      cd01635
      Location:304 → 416
      Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology
      pfam12038
      Location:24 → 132
      DUF3524; Domain of unknown function (DUF3524)

    8. XM_047445845.1 → XP_047301801.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    9. XM_047445846.1 → XP_047301802.1  tRNA-queuosine alpha-mannosyltransferase isoform X4

    10. XM_047445847.1 → XP_047301803.1  tRNA-queuosine alpha-mannosyltransferase isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      144386085..144781108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343924.1 → XP_054199899.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    2. XM_054343925.1 → XP_054199900.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    3. XM_054343928.1 → XP_054199903.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    4. XM_054343926.1 → XP_054199901.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    5. XM_054343929.1 → XP_054199904.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    6. XM_054343933.1 → XP_054199908.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    7. XM_054343932.1 → XP_054199907.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    8. XM_054343930.1 → XP_054199905.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    9. XM_054343931.1 → XP_054199906.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    10. XM_054343927.1 → XP_054199902.1  tRNA-queuosine alpha-mannosyltransferase isoform X1

    11. XM_054343934.1 → XP_054199909.1  tRNA-queuosine alpha-mannosyltransferase isoform X2

    12. XM_054343940.1 → XP_054199915.1  tRNA-queuosine alpha-mannosyltransferase isoform X8

    13. XM_054343938.1 → XP_054199913.1  tRNA-queuosine alpha-mannosyltransferase isoform X6

    14. XM_054343943.1 → XP_054199918.1  tRNA-queuosine alpha-mannosyltransferase isoform X11

    15. XM_054343942.1 → XP_054199917.1  tRNA-queuosine alpha-mannosyltransferase isoform X10

    16. XM_054343936.1 → XP_054199911.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    17. XM_054343937.1 → XP_054199912.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    18. XM_054343935.1 → XP_054199910.1  tRNA-queuosine alpha-mannosyltransferase isoform X3

    19. XM_054343944.1 → XP_054199919.1  tRNA-queuosine alpha-mannosyltransferase isoform X5

    20. XM_054343939.1 → XP_054199914.1  tRNA-queuosine alpha-mannosyltransferase isoform X7

    21. XM_054343941.1 → XP_054199916.1  tRNA-queuosine alpha-mannosyltransferase isoform X9

    22. XM_054343945.1 → XP_054199920.1  tRNA-queuosine alpha-mannosyltransferase isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4AE62.1 GenPept UniProtKB/Swiss-Prot:Q4AE62

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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