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

Gene ID: 10585, updated on 14-Jun-2018
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]
Expression
Broad expression in testis (RPKM 20.7), brain (RPKM 7.5) and 25 other tissues See more
Orthologs
See POMT1 in Genome Data Viewer
Location:
9q34.13
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (131502902..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 1B 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
mannosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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
PubMed 
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_001340122.1
NP_001340123.1
NP_001340124.1
NP_001340125.1
NP_001340126.1
NP_001340127.1
NP_001340128.1
NP_001340129.1
NP_009102.3
XP_005272219.1
XP_006716995.1
XP_011516442.1
XP_011516443.1
XP_011516444.1
XP_011516445.1
XP_011516447.1
XP_016869694.1
XP_024303148.1
XP_024303149.1
XP_024303150.1

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. Variants 3 and 7 both encode the same isoform (c).
    Source sequence(s)
    AK074874, AL358781, BF984005, DB154785
    Consensus CDS
    CCDS43895.1
    UniProtKB/Swiss-Prot
    Q9Y6A1
    Related
    ENSP00000343034.7, OTTHUMP00000022406, ENST00000341012.11, OTTHUMT00000054738
    Conserved Domains (1) summary
    COG1928
    Location:6666
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  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. Variants 5 and 8 both encode the same isoform (d).
    Source sequence(s)
    AK295561, AL358781, BC065268
    Consensus CDS
    CCDS48045.1
    UniProtKB/Swiss-Prot
    Q9Y6A1
    Related
    ENSP00000384531.2, ENST00000404875.6
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  5. NM_001353193.1NP_001340122.1  protein O-mannosyl-transferase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AF095136, AL358781
    Consensus CDS
    CCDS6943.1
    Conserved Domains (1) summary
    COG1928
    Location:14742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  6. NM_001353194.1NP_001340123.1  protein O-mannosyl-transferase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 3, encodes isoform c.
    Source sequence(s)
    AF095136, AL358781
    Consensus CDS
    CCDS43895.1
    Conserved Domains (1) summary
    COG1928
    Location:6666
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  7. NM_001353195.1NP_001340124.1  protein O-mannosyl-transferase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 5, encodes isoform d.
    Source sequence(s)
    AF095136, AL358781
    Consensus CDS
    CCDS48045.1
    Conserved Domains (1) summary
    COG1928
    Location:2603
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  8. NM_001353196.1NP_001340125.1  protein O-mannosyl-transferase 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
    Conserved Domains (1) summary
    COG1928
    Location:14690
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  9. NM_001353197.1NP_001340126.1  protein O-mannosyl-transferase 1 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 11, encodes isoform f.
    Source sequence(s)
    AF095136, AL358781
    Conserved Domains (1) summary
    COG1928
    Location:6688
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  10. NM_001353198.1NP_001340127.1  protein O-mannosyl-transferase 1 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 10, encodes isoform f.
    Source sequence(s)
    AF095136, AL358781
    Conserved Domains (1) summary
    COG1928
    Location:6688
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  11. NM_001353199.1NP_001340128.1  protein O-mannosyl-transferase 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
    Conserved Domains (1) summary
    COG1928
    Location:2625
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
  12. NM_001353200.1NP_001340129.1  protein O-mannosyl-transferase 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
    Conserved Domains (1) summary
    cl25703
    Location:2568
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  13. 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). Variants 1 and 6 both encode the same 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 (1) summary
    COG1928
    Location:14742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

RNA

  1. NR_148391.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
  2. NR_148392.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
  3. NR_148393.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
  4. NR_148394.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781, BP360727
  5. NR_148395.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
  6. NR_148396.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781, BP360727
  7. NR_148397.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781, BP360727
  8. NR_148398.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781, BP360727
  9. NR_148399.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF095136, AL358781
  10. NR_148400.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL358781, BP360727

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    131502902..131523806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518140.2XP_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
  2. XM_011518141.2XP_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
  3. XM_011518143.2XP_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
  4. XM_024447380.1XP_024303148.1  protein O-mannosyl-transferase 1 isoform X7

    Conserved Domains (2) summary
    smart00472
    Location:64114
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam16192
    Location:146339
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  5. XM_024447382.1XP_024303150.1  protein O-mannosyl-transferase 1 isoform X7

    Conserved Domains (2) summary
    smart00472
    Location:64114
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam16192
    Location:146339
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  6. XM_005272162.3XP_005272219.1  protein O-mannosyl-transferase 1 isoform X7

    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:146339
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  7. XM_024447381.1XP_024303149.1  protein O-mannosyl-transferase 1 isoform X8

    Conserved Domains (1) summary
    cl25703
    Location:1445
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
  8. XM_011518142.2XP_011516444.1  protein O-mannosyl-transferase 1 isoform X4

    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
  9. XM_011518145.2XP_011516447.1  protein O-mannosyl-transferase 1 isoform X6

    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_006716932.2XP_006716995.1  protein O-mannosyl-transferase 1 isoform X5

    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
  11. XM_017014205.2XP_016869694.1  protein O-mannosyl-transferase 1 isoform X7

    Conserved Domains (2) summary
    smart00472
    Location:64114
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam16192
    Location:146339
    PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

RNA

  1. XR_001746164.1 RNA Sequence

  2. XR_001746160.2 RNA Sequence

  3. XR_001746162.2 RNA Sequence

  4. XR_001746166.2 RNA Sequence

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