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    HEMK1 HemK methyltransferase family member 1 [ Homo sapiens (human) ]

    Gene ID: 51409, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HEMK1provided by HGNC
    Official Full Name
    HemK methyltransferase family member 1provided by HGNC
    Primary source
    HGNC:HGNC:24923
    See related
    Ensembl:ENSG00000114735 MIM:618609; AllianceGenome:HGNC:24923
    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
    HEMK; MTQ1; MPRMC
    Summary
    Enables protein-(glutamine-N5) methyltransferase activity. Predicted to be involved in protein methylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.4), ovary (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEMK1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50569180..50596166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50599066..50626049)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50606611..50633597)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 2 Neighboring gene uncharacterized LOC105377082 Neighboring gene uncharacterized LOC124909378 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50497326-50497515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50502013-50502514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50504841-50505342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50522331-50522892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50525585-50526085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50530681-50531336 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50533211-50534158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541176-50541684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50541685-50542193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50549261-50550206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50553051-50553689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50560501-50561010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50562801-50563438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50569793-50570542 Neighboring gene uncharacterized LOC105377083 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:50575146-50575387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50576885-50577561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50584920-50585829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50586902-50587840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19907 Neighboring gene chromosome 3 open reading frame 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619223-50619724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50619725-50620224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50621581-50622099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19911 Neighboring gene VISTA enhancer hs1747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50648164-50648724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50654302-50655255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50655256-50656208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50662917-50663693 Neighboring gene MAPK activated protein kinase 3 Neighboring gene cytokine inducible SH2 containing protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50684509-50685008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50686500-50687053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50688509-50689442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50689443-50690376 Neighboring gene long intergenic non-protein coding RNA 2019

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors. Fang Q, et al. Sci Rep, 2022 Mar 8. PMID 35260756, Free PMC Article
    2. Is the HemK family of putative S-adenosylmethionine-dependent methyltransferases a "missing" zeta subfamily of adenine methyltransferases? A hypothesis. Bujnicki JM, et al. IUBMB Life, 1999 Sep. PMID 10690633
    3. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. Ishizawa T, et al. Biochem Biophys Res Commun, 2008 Aug 15. PMID 18541145
    4. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.
      Title: Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Human mitochondrial methyltransferase, HMPrmC, which methylates the glutamine residue in the GGQ tripeptide motif of HMRF1L, was identified.
      Title: The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.
    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

    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

    • FLJ22320

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-(glutamine-N5) methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-glutamine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translational termination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    MTRF1L release factor glutamine methyltransferase
    Names
    HEMK homolog 7kb
    m.HsaHemKP
    testis secretory sperm-binding protein Li 225n
    NP_001304780.1
    NP_001364349.1
    NP_001364350.1
    NP_001364351.1
    NP_001364352.1
    NP_001364353.1
    NP_001364354.1
    NP_001364355.1
    NP_001364356.1
    NP_001364357.1
    NP_001364358.1
    NP_057257.1
    XP_005265275.1
    XP_011532108.1
    XP_011532109.1
    XP_011532110.1
    XP_011532112.1
    XP_011532114.1
    XP_011532116.1
    XP_047304235.1
    XP_047304236.1
    XP_047304237.1
    XP_047304238.1
    XP_047304239.1
    XP_047304240.1
    XP_047304241.1
    XP_047304242.1
    XP_047304243.1
    XP_047304244.1
    XP_047304245.1
    XP_047304246.1
    XP_054202759.1
    XP_054202760.1
    XP_054202761.1
    XP_054202762.1
    XP_054202763.1
    XP_054202764.1
    XP_054202765.1
    XP_054202766.1
    XP_054202767.1
    XP_054202768.1
    XP_054202769.1
    XP_054202770.1
    XP_054202771.1
    XP_054202772.1

    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_001317851.2 → NP_001304780.1  MTRF1L release factor glutamine methyltransferase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC096920, AF172244, AK025973, BQ183021, BX537562, DA404565, DB101409
      Consensus CDS
      CCDS2830.1
      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98, B2RA37
      Related
      ENSP00000404843.1, ENST00000434410.5
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 331
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    2. NM_001377420.1 → NP_001364349.1  MTRF1L release factor glutamine methyltransferase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Consensus CDS
      CCDS2830.1
      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98, B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 331
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    3. NM_001377421.1 → NP_001364350.1  MTRF1L release factor glutamine methyltransferase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Consensus CDS
      CCDS2830.1
      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98, B2RA37
      Related
      ENSP00000404334.1, ENST00000455834.5
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 331
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    4. NM_001377422.1 → NP_001364351.1  MTRF1L release factor glutamine methyltransferase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Consensus CDS
      CCDS2830.1
      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98, B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 331
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    5. NM_001377423.1 → NP_001364352.1  MTRF1L release factor glutamine methyltransferase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC096920
      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 326
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    6. NM_001377424.1 → NP_001364353.1  MTRF1L release factor glutamine methyltransferase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC096920
      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 330
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    7. NM_001377425.1 → NP_001364354.1  MTRF1L release factor glutamine methyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 224
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    8. NM_001377426.1 → NP_001364355.1  MTRF1L release factor glutamine methyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 224
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    9. NM_001377427.1 → NP_001364356.1  MTRF1L release factor glutamine methyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 224
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    10. NM_001377428.1 → NP_001364357.1  MTRF1L release factor glutamine methyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 224
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    11. NM_001377429.1 → NP_001364358.1  MTRF1L release factor glutamine methyltransferase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC096920
      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 224
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    12. NM_016173.5 → NP_057257.1  MTRF1L release factor glutamine methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_057257.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC096920, AF172244, AK314023, BQ183021, BX537562, DA363235, DA404565, DB101409
      Consensus CDS
      CCDS2830.1
      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98, B2RA37
      Related
      ENSP00000232854.4, ENST00000232854.9
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 331
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50569180..50596166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448287.1 → XP_047304243.1  MTRF1L release factor glutamine methyltransferase isoform X5

    2. XM_011533808.1 → XP_011532110.1  MTRF1L release factor glutamine methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011532110.1

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 326
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    3. XM_047448285.1 → XP_047304241.1  MTRF1L release factor glutamine methyltransferase isoform X3

      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98

    4. XM_047448286.1 → XP_047304242.1  MTRF1L release factor glutamine methyltransferase isoform X3

      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98

    5. XM_047448284.1 → XP_047304240.1  MTRF1L release factor glutamine methyltransferase isoform X3

      UniProtKB/Swiss-Prot
      Q9Y5R4
      UniProtKB/TrEMBL
      A0A140VK98

    6. XM_047448288.1 → XP_047304244.1  MTRF1L release factor glutamine methyltransferase isoform X5

    7. XM_005265218.4 → XP_005265275.1  MTRF1L release factor glutamine methyltransferase isoform X5

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 279
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    8. XM_047448281.1 → XP_047304237.1  MTRF1L release factor glutamine methyltransferase isoform X1

    9. XM_011533807.2 → XP_011532109.1  MTRF1L release factor glutamine methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011532109.1

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 326
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    10. XM_047448282.1 → XP_047304238.1  MTRF1L release factor glutamine methyltransferase isoform X1

    11. XM_047448280.1 → XP_047304236.1  MTRF1L release factor glutamine methyltransferase isoform X1

    12. XM_011533806.3 → XP_011532108.1  MTRF1L release factor glutamine methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011532108.1

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 326
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    13. XM_011533810.3 → XP_011532112.1  MTRF1L release factor glutamine methyltransferase isoform X2

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 326
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    14. XM_011533812.3 → XP_011532114.1  MTRF1L release factor glutamine methyltransferase isoform X4

      UniProtKB/TrEMBL
      B2RA37
      Conserved Domains (1) summary
      TIGR03534
      Location:63 → 274
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    15. XM_047448279.1 → XP_047304235.1  MTRF1L release factor glutamine methyltransferase isoform X1

    16. XM_047448283.1 → XP_047304239.1  MTRF1L release factor glutamine methyltransferase isoform X2

    17. XM_047448289.1 → XP_047304245.1  MTRF1L release factor glutamine methyltransferase isoform X6

    18. XM_047448290.1 → XP_047304246.1  MTRF1L release factor glutamine methyltransferase isoform X7

    19. XM_011533814.3 → XP_011532116.1  MTRF1L release factor glutamine methyltransferase isoform X7

      See identical proteins and their annotated locations for XP_011532116.1

      Conserved Domains (1) summary
      TIGR03534
      Location:1 → 219
      RF_mod_PrmC; protein-(glutamine-N5) methyltransferase, release factor-specific

    RNA

    1. XR_007095692.1 RNA Sequence

    2. XR_940453.3 RNA Sequence

    3. XR_940454.3 RNA Sequence

    4. XR_940451.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50599066..50626049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346787.1 → XP_054202762.1  MTRF1L release factor glutamine methyltransferase isoform X1

    2. XM_054346793.1 → XP_054202768.1  MTRF1L release factor glutamine methyltransferase isoform X5

    3. XM_054346788.1 → XP_054202763.1  MTRF1L release factor glutamine methyltransferase isoform X1

    4. XM_054346789.1 → XP_054202764.1  MTRF1L release factor glutamine methyltransferase isoform X1

    5. XM_054346786.1 → XP_054202761.1  MTRF1L release factor glutamine methyltransferase isoform X1

    6. XM_054346784.1 → XP_054202759.1  MTRF1L release factor glutamine methyltransferase isoform X1

    7. XM_054346790.1 → XP_054202765.1  MTRF1L release factor glutamine methyltransferase isoform X2

    8. XM_054346792.1 → XP_054202767.1  MTRF1L release factor glutamine methyltransferase isoform X4

    9. XM_054346785.1 → XP_054202760.1  MTRF1L release factor glutamine methyltransferase isoform X1

    10. XM_054346791.1 → XP_054202766.1  MTRF1L release factor glutamine methyltransferase isoform X2

    11. XM_054346794.1 → XP_054202769.1  MTRF1L release factor glutamine methyltransferase isoform X5

    12. XM_054346795.1 → XP_054202770.1  MTRF1L release factor glutamine methyltransferase isoform X6

    13. XM_054346797.1 → XP_054202772.1  MTRF1L release factor glutamine methyltransferase isoform X7

    14. XM_054346796.1 → XP_054202771.1  MTRF1L release factor glutamine methyltransferase isoform X7

    RNA

    1. XR_008486734.1 RNA Sequence

    2. XR_008486731.1 RNA Sequence

    3. XR_008486732.1 RNA Sequence

    4. XR_008486733.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5R4.1 GenPept UniProtKB/Swiss-Prot:Q9Y5R4

    Gene LinkOut

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

    Chemical Information
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