• Gene id: 10585

Gene Summary

• Gene Symbol: POMT1   Gene   UCSC   Ensembl
• Aliases: LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
• Gene name: protein O-mannosyltransferase 1
• Alternate names: protein O-mannosyl-transferase 1, dolichyl-phosphate-mannose--protein mannosyltransferase 1, testis tissue sperm-binding protein Li 57p, truncated O-mannosyl-transferase 1 variant SV3DEL,
• Gene location: 9q34.13 (: )     Exons:     
• Gene summary(Entrez): 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 o
• OMIM: 602913

Protein Summary

• Protein general information: Q9Y6A1  
  • Name: Protein O mannosyl transferase 1 (EC 2.4.1.109) (Dolichyl phosphate mannose protein mannosyltransferase 1)
  • Length: 747  
  • Mass: 84881
  • Tissue specificity: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
• Sequence:

  MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLAL
  GGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQS
  RLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHL
  LGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS
  AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNW
  WIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVN
  RGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERE
  RELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW
  VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQIL
  LLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH

• Structural information:
  • Protein Domains: (318..38-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (392..44-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (453..51-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131"-)
  • Interpro: IPR027005  IPR003342  IPR036300  IPR016093  IPR032421  
  • Prosite: PS50919
  • STRING: ENSP00000361302
• Other Databases: GeneCards:  POMT1  Malacards:  POMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0000030	mannosyltransferase activity	IMP	molecular function
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0000030	mannosyltransferase activity	IEA	molecular function
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000030	mannosyltransferase activity	TAS	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1904100	positive regulation of protein O-linked glycosylation	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00514	Other types of O-glycan biosynthesis
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Lissencephaly	PMID:17559086
Walker-Warburg syndrome	PMID:15637732
Walker-Warburg syndrome	PMID:16575835
Walker-Warburg syndrome	PMID:12369018
Cardiomyopathy	PMID:22549409
Cleft lip	PMID:18640039
Muscular dystrophy	PMID:16575835
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray