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    POMT1 protein O-mannosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 10585, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POMT1provided by HGNC
    Official Full Name
    protein O-mannosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:9202
    See related
    Ensembl:ENSG00000130714 MIM:607423; AllianceGenome:HGNC:9202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11
    Summary
    The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
    Expression
    Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POMT1 in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131502918..131523799)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143715812..143736761)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134378305..134399186)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2B Neighboring gene uncharacterized LOC124902290 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134375403-134376602 Neighboring gene small nucleolar RNA, C/D box 62B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378091-134378958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378959-134379824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388206-134388706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388707-134389207 Neighboring gene uncharacterized LOC105376301 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134403902-134405101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134405807-134406720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20421 Neighboring gene uridine-cytidine kinase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134426802-134427303 Neighboring gene proline rich transmembrane protein 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. Hu P, et al. J Cell Mol Med, 2017 Jul. PMID 28157257, Free PMC Article
    2. A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. Cotarelo RP, et al. Clin Genet, 2009 Jul. PMID 19519795
    3. POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. Judas M, et al. Neuropediatrics, 2009 Feb. PMID 19639522
    4. Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread. Snoei J, et al. Neuropathology, 2009 Apr. PMID 18647264
    5. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Wallace SE, et al. Neuromuscul Disord, 2014 Apr. PMID 24491487, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.", trans "POMT1POMT22alpha-.
      Title: POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
    2. Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1.
      Title: Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1.
    3. In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene.
      Title: Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
    4. The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father.
      Title: [Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
    5. These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease
      Title: Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
    6. O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated.
      Title: Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.
    7. results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4.
      Title: Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.
    8. Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with alpha-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients.
      Title: Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
    9. Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction.
      Title: Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.
    10. report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified
      Title: A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37239

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase 1
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 1
    testis tissue sperm-binding protein Li 57p
    NP_001070833.1
    NP_001070834.1
    NP_001129585.1
    NP_001129586.1
    NP_001340122.2
    NP_001340123.1
    NP_001340124.1
    NP_001340125.1
    NP_001340126.2
    NP_001340127.2
    NP_001340128.2
    NP_001340129.1
    NP_001361618.1
    NP_001361619.1
    NP_001361620.1
    NP_001361621.1
    NP_001361622.1
    NP_001361624.1
    NP_001397953.1
    NP_009102.4
    XP_011516442.1
    XP_011516443.1
    XP_011516444.1
    XP_011516445.1
    XP_011516447.1
    XP_047278596.1
    XP_047278597.1
    XP_047278598.1
    XP_054217734.1
    XP_054217735.1
    XP_054217736.1
    XP_054217737.1
    XP_054217738.1
    XP_054217739.1
    XP_054217740.1
    XP_054217741.1

    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.

    Genomic

    1. NG_008896.2 RefSeqGene

      Range
      5017..25898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_842

    mRNA and Protein(s)

    1. NM_001077365.2 → NP_001070833.1  protein O-mannosyl-transferase 1 isoform b

      See identical proteins and their annotated locations for NP_001070833.1

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS43894.1
      UniProtKB/TrEMBL
      A0A140VKE0, A0A1V1FTP4
      Related
      ENSP00000385797.4, ENST00000402686.8
      Conserved Domains (4) summary
      smart00472
      Location:299 → 356
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14 → 720
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20 → 267
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:520 → 718
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    2. NM_001077366.2 → NP_001070834.1  protein O-mannosyl-transferase 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS43895.1
      UniProtKB/TrEMBL
      B4DEA0
      Related
      ENSP00000343034.7, ENST00000341012.13
      Conserved Domains (1) summary
      COG1928
      Location:6 → 666
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    3. NM_001136113.2 → NP_001129585.1  protein O-mannosyl-transferase 1 isoform b

      See identical proteins and their annotated locations for NP_001129585.1

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS43894.1
      UniProtKB/TrEMBL
      A0A140VKE0, A0A1V1FTP4
      Related
      ENSP00000503281.1, ENST00000676640.1
      Conserved Domains (4) summary
      smart00472
      Location:299 → 356
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14 → 720
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20 → 267
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:520 → 718
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    4. NM_001136114.2 → NP_001129586.1  protein O-mannosyl-transferase 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS48045.1
      UniProtKB/TrEMBL
      B4DEA0
      Related
      ENSP00000503772.1, ENST00000677216.1
      Conserved Domains (1) summary
      COG1928
      Location:2 → 603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    5. NM_001353193.2 → NP_001340122.2  protein O-mannosyl-transferase 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS6943.1
      UniProtKB/Swiss-Prot
      B3KQG0, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2, Q9Y6A1
      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (1) summary
      COG1928
      Location:14 → 742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    6. NM_001353194.2 → NP_001340123.1  protein O-mannosyl-transferase 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS43895.1
      UniProtKB/TrEMBL
      B4DEA0
      Conserved Domains (1) summary
      COG1928
      Location:6 → 666
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    7. NM_001353195.2 → NP_001340124.1  protein O-mannosyl-transferase 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS48045.1
      UniProtKB/TrEMBL
      B4DEA0
      Conserved Domains (1) summary
      COG1928
      Location:2 → 603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    8. NM_001353196.2 → NP_001340125.1  protein O-mannosyl-transferase 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS94516.1
      UniProtKB/TrEMBL
      A0A1V1FTP4, B4DTW4
      Related
      ENSP00000503696.1, ENST00000678303.1
      Conserved Domains (1) summary
      COG1928
      Location:14 → 690
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    9. NM_001353197.2 → NP_001340126.2  protein O-mannosyl-transferase 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (1) summary
      COG1928
      Location:6 → 688
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    10. NM_001353198.2 → NP_001340127.2  protein O-mannosyl-transferase 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (1) summary
      COG1928
      Location:6 → 688
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    11. NM_001353199.2 → NP_001340128.2  protein O-mannosyl-transferase 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      B4DEA0
      Conserved Domains (1) summary
      COG1928
      Location:2 → 625
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    12. NM_001353200.2 → NP_001340129.1  protein O-mannosyl-transferase 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS94518.1
      UniProtKB/TrEMBL
      A0A7I2V2K0, B4DSA5
      Related
      ENSP00000502936.1, ENST00000677029.1
      Conserved Domains (1) summary
      cl25703
      Location:2 → 568
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    13. NM_001374689.1 → NP_001361618.1  protein O-mannosyl-transferase 1 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Conserved Domains (1) summary
      COG1928
      Location:6 → 716
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    14. NM_001374690.1 → NP_001361619.1  protein O-mannosyl-transferase 1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (1) summary
      COG1928
      Location:14 → 647
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    15. NM_001374691.1 → NP_001361620.1  protein O-mannosyl-transferase 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS48045.1
      UniProtKB/TrEMBL
      B4DEA0
      Related
      ENSP00000503356.1, ENST00000679189.1
      Conserved Domains (1) summary
      COG1928
      Location:2 → 603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    16. NM_001374692.1 → NP_001361621.1  protein O-mannosyl-transferase 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS48045.1
      UniProtKB/TrEMBL
      B4DEA0
      Conserved Domains (1) summary
      COG1928
      Location:2 → 603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    17. NM_001374693.1 → NP_001361622.1  protein O-mannosyl-transferase 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS94517.1
      UniProtKB/TrEMBL
      A0A1V1FTP4, A0A7I2V445
      Related
      ENSP00000503552.1, ENST00000677626.1
      Conserved Domains (1) summary
      COG1928
      Location:6 → 603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    18. NM_001374695.1 → NP_001361624.1  protein O-mannosyl-transferase 1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      B4DSA5
      Conserved Domains (1) summary
      COG1928
      Location:2 → 590
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    19. NM_001411024.1 → NP_001397953.1  protein O-mannosyl-transferase 1 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS94519.1
      UniProtKB/TrEMBL
      Q5JT02
      Related
      ENSP00000361294.5, ENST00000372220.5

    20. NM_007171.4 → NP_009102.4  protein O-mannosyl-transferase 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS6943.1
      UniProtKB/Swiss-Prot
      B3KQG0, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2, Q9Y6A1
      UniProtKB/TrEMBL
      A0A1V1FTP4
      Related
      ENSP00000361302.3, ENST00000372228.9
      Conserved Domains (1) summary
      COG1928
      Location:14 → 742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_148391.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781

    2. NR_148392.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781

    3. NR_148393.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781

    4. NR_148394.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Related
      ENST00000678833.1

    5. NR_148395.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Related
      ENST00000679111.1

    6. NR_148396.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781

    7. NR_148397.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Related
      ENST00000677099.1

    8. NR_148398.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Related
      ENST00000677853.1

    9. NR_148399.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781

    10. NR_148400.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL358781
      Related
      ENST00000678626.1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      131502918..131523799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518140.3 → XP_011516442.1  protein O-mannosyl-transferase 1 isoform X1

      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (4) summary
      smart00472
      Location:272 → 329
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14 → 693
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20 → 240
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:493 → 691
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    2. XM_011518141.3 → XP_011516443.1  protein O-mannosyl-transferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A1V1FTP4
      Conserved Domains (4) summary
      smart00472
      Location:250 → 307
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14 → 671
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20 → 218
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:471 → 669
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    3. XM_011518143.3 → XP_011516445.1  protein O-mannosyl-transferase 1 isoform X4

      Conserved Domains (2) summary
      smart00472
      Location:287 → 344
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:437 → 635
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    4. XM_011518142.3 → XP_011516444.1  protein O-mannosyl-transferase 1 isoform X3

      UniProtKB/TrEMBL
      B4DSA5
      Conserved Domains (4) summary
      smart00472
      Location:218 → 275
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:6 → 639
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1 → 186
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:439 → 637
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    5. XM_047422640.1 → XP_047278596.1  protein O-mannosyl-transferase 1 isoform X5

      UniProtKB/TrEMBL
      B4DSA5

    6. XM_011518145.3 → XP_011516447.1  protein O-mannosyl-transferase 1 isoform X7

      UniProtKB/TrEMBL
      B4DSA5
      Conserved Domains (1) summary
      COG1928
      Location:2 → 590
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    7. XM_047422641.1 → XP_047278597.1  protein O-mannosyl-transferase 1 isoform X6

      UniProtKB/TrEMBL
      A0A7I2V505

    8. XM_047422642.1 → XP_047278598.1  protein O-mannosyl-transferase 1 isoform X8

    RNA

    1. XR_001746160.3 RNA Sequence

    2. XR_007061226.1 RNA Sequence

    3. XR_007061227.1 RNA Sequence

    4. XR_007061228.1 RNA Sequence

    5. XR_007061229.1 RNA Sequence

    6. XR_007061230.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      143715812..143736761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361759.1 → XP_054217734.1  protein O-mannosyl-transferase 1 isoform X1

      UniProtKB/TrEMBL
      A0A1V1FTP4

    2. XM_054361760.1 → XP_054217735.1  protein O-mannosyl-transferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A1V1FTP4

    3. XM_054361762.1 → XP_054217737.1  protein O-mannosyl-transferase 1 isoform X4

    4. XM_054361761.1 → XP_054217736.1  protein O-mannosyl-transferase 1 isoform X3

      UniProtKB/TrEMBL
      B4DSA5

    5. XM_054361763.1 → XP_054217738.1  protein O-mannosyl-transferase 1 isoform X5

      UniProtKB/TrEMBL
      B4DSA5

    6. XM_054361765.1 → XP_054217740.1  protein O-mannosyl-transferase 1 isoform X7

      UniProtKB/TrEMBL
      B4DSA5

    7. XM_054361764.1 → XP_054217739.1  protein O-mannosyl-transferase 1 isoform X6

      UniProtKB/TrEMBL
      A0A7I2V505

    8. XM_054361766.1 → XP_054217741.1  protein O-mannosyl-transferase 1 isoform X8

    RNA

    1. XR_008487925.1 RNA Sequence

    2. XR_008487926.1 RNA Sequence

    3. XR_008487927.1 RNA Sequence

    4. XR_008487928.1 RNA Sequence

    5. XR_008487929.1 RNA Sequence

    6. XR_008487930.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6A1.3 GenPept UniProtKB/Swiss-Prot:Q9Y6A1

    Gene LinkOut

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