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

    Gene ID: 10585, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000020826
    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
    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]
    Orthologs
    Location:
    9q34.13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (131502895..131523806)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134378282..134399193)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2B Neighboring gene uncharacterized LOC107987135 Neighboring gene small nucleolar RNA, C/D box 62B Neighboring gene uncharacterized LOC105376301 Neighboring gene uridine-cytidine kinase 1 Neighboring gene proline-rich transmembrane protein 1-like Neighboring gene Rap guanine nucleotide exchange factor 1 Neighboring gene RNA, 7SL, cytoplasmic 328, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
      Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ37239

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dolichyl-phosphate-mannose-protein mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER-associated misfolded protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    protein O-linked mannosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein O-mannosyl-transferase 1
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 1
    testis tissue sperm-binding protein Li 57p
    truncated O-mannosyl-transferase 1 variant SV3DEL
    NP_001070833.1
    NP_001070834.1
    NP_001129585.1
    NP_001129586.1
    NP_009102.3

    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_008896.1 RefSeqGene

      Range
      5001..25905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001070833.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.
      Source sequence(s)
      AK074874, AL358781, BF984005, DB154785
      Consensus CDS
      CCDS43894.1
      UniProtKB/Swiss-Prot
      Q9Y6A1
      UniProtKB/TrEMBL
      A0A140VKE0
      Related
      ENSP00000385797.3, OTTHUMP00000022407, ENST00000402686.7, OTTHUMT00000054739
      Conserved Domains (4) summary
      smart00472
      Location:299356
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14720
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20267
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:520718
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    2. NM_001077366.1NP_001070834.1  protein O-mannosyl-transferase 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks the exon containing the translation start site compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an internal segment compared to isoform a.
      Source sequence(s)
      AK074874, AL358781, BF984005, DB154785
      Consensus CDS
      CCDS43895.1
      UniProtKB/Swiss-Prot
      Q9Y6A1
      Related
      ENSP00000343034.7, OTTHUMP00000022406, ENST00000341012.11, OTTHUMT00000054738
      Conserved Domains (4) summary
      smart00472
      Location:245302
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:6666
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1213
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:466664
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    3. NM_001136113.1NP_001129585.1  protein O-mannosyl-transferase 1 isoform b

      See identical proteins and their annotated locations for NP_001129585.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.
      Source sequence(s)
      AL358781, BC065268, DB154785
      Consensus CDS
      CCDS43894.1
      UniProtKB/Swiss-Prot
      Q9Y6A1
      UniProtKB/TrEMBL
      A0A140VKE0
      Related
      ENSP00000404119.1, ENST00000423007.5
      Conserved Domains (4) summary
      smart00472
      Location:299356
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14720
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20267
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:520718
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    4. NM_001136114.1NP_001129586.1  protein O-mannosyl-transferase 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons and uses an alternate in-frame splice site compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to isoform a.
      Source sequence(s)
      AK295561, AL358781, BC065268
      Consensus CDS
      CCDS48045.1
      UniProtKB/Swiss-Prot
      Q9Y6A1
      Related
      ENSP00000384531.2, ENST00000404875.6
      Conserved Domains (4) summary
      smart00472
      Location:182239
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:2603
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1150
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:403601
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    5. NM_007171.3NP_009102.3  protein O-mannosyl-transferase 1 isoform a

      See identical proteins and their annotated locations for NP_009102.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF095136, AK074874, AL358781, BF984005, DB154785
      Consensus CDS
      CCDS6943.1
      UniProtKB/Swiss-Prot
      Q9Y6A1
      Related
      ENSP00000361302.3, OTTHUMP00000022405, ENST00000372228.7, OTTHUMT00000054737
      Conserved Domains (4) summary
      smart00472
      Location:321378
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20289
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:542740
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      131502895..131523806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272158.1XP_005272215.1  protein O-mannosyl-transferase 1 isoform X5

      Conserved Domains (4) summary
      smart00472
      Location:267324
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:6688
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1235
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:488686
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    2. XM_005272159.1XP_005272216.1  protein O-mannosyl-transferase 1 isoform X7

      See identical proteins and their annotated locations for XP_005272216.1

      Conserved Domains (4) summary
      smart00472
      Location:204261
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:2625
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1172
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:425623
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    3. XM_011518140.1XP_011516442.1  protein O-mannosyl-transferase 1 isoform X1

      Conserved Domains (4) summary
      smart00472
      Location:272329
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14693
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20240
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:493691
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    4. XM_011518141.1XP_011516443.1  protein O-mannosyl-transferase 1 isoform X2

      Conserved Domains (4) summary
      smart00472
      Location:250307
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14671
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20218
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:471669
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    5. XM_011518143.1XP_011516445.1  protein O-mannosyl-transferase 1 isoform X3

      Conserved Domains (2) summary
      smart00472
      Location:287344
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:437635
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    6. XM_005272162.2XP_005272219.1  protein O-mannosyl-transferase 1 isoform X9

      See identical proteins and their annotated locations for XP_005272219.1

      Conserved Domains (2) summary
      smart00472
      Location:64114
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:143341
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    7. XM_011518142.1XP_011516444.1  protein O-mannosyl-transferase 1 isoform X6

      Conserved Domains (4) summary
      smart00472
      Location:218275
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:6639
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1186
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:439637
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    8. XM_017014204.1XP_016869693.1  protein O-mannosyl-transferase 1 isoform X9

      Conserved Domains (2) summary
      smart00472
      Location:64114
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:143341
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    9. XM_011518145.1XP_011516447.1  protein O-mannosyl-transferase 1 isoform X8

      Conserved Domains (3) summary
      smart00472
      Location:169226
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:390588
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
      cl21590
      Location:1137
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    10. XM_017014203.1XP_016869692.1  protein O-mannosyl-transferase 1 isoform X5

      Conserved Domains (4) summary
      smart00472
      Location:267324
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:6688
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1235
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:488686
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    11. XM_005272156.1XP_005272213.1  protein O-mannosyl-transferase 1 isoform X4

      See identical proteins and their annotated locations for XP_005272213.1

      UniProtKB/Swiss-Prot
      Q9Y6A1
      Conserved Domains (4) summary
      smart00472
      Location:321378
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:14742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:20289
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:542740
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    12. XM_006716932.1XP_006716995.1  protein O-mannosyl-transferase 1 isoform X7

      See identical proteins and their annotated locations for XP_006716995.1

      Conserved Domains (4) summary
      smart00472
      Location:204261
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:2625
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:1172
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:425623
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    13. XM_017014205.1XP_016869694.1  protein O-mannosyl-transferase 1 isoform X9

      Conserved Domains (2) summary
      smart00472
      Location:64114
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam16192
      Location:143341
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    RNA

    1. XR_001746167.1 RNA Sequence

    2. XR_001746161.1 RNA Sequence

    3. XR_001746164.1 RNA Sequence

    4. XR_001746162.1 RNA Sequence

    5. XR_929703.1 RNA Sequence

    6. XR_001746163.1 RNA Sequence

    7. XR_001746160.1 RNA Sequence

    8. XR_001746165.1 RNA Sequence

    9. XR_001746166.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      134527759..134548591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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