InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: POMT1

Summary

InnateDB Gene

IDBG-89966.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POMT1

Gene Name

protein-O-mannosyltransferase 1

Synonyms

LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT

Species

Homo sapiens

Ensembl Gene

ENSG00000130714

Encoded Proteins

IDBP-89968

protein-O-mannosyltransferase 1

IDBP-89970

protein-O-mannosyltransferase 1

IDBP-89976

protein-O-mannosyltransferase 1

IDBP-294346

protein-O-mannosyltransferase 1

IDBP-294339

protein-O-mannosyltransferase 1

IDBP-382848

protein-O-mannosyltransferase 1

IDBP-382849

protein-O-mannosyltransferase 1

IDBP-382852

protein-O-mannosyltransferase 1

IDBP-382853

protein-O-mannosyltransferase 1

IDBP-382854

protein-O-mannosyltransferase 1

IDBP-382855

protein-O-mannosyltransferase 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:131502902-131523806

Strand

Forward strand

Band

q34.13

Transcripts

ENST00000341012	ENSP00000343034
ENST00000372228	ENSP00000361302
ENST00000372220	ENSP00000361294
ENST00000402686	ENSP00000385797
ENST00000404875	ENSP00000384531
ENST00000423007	ENSP00000404119
ENST00000441334	ENSP00000395060
ENST00000418774	ENSP00000390737
ENST00000415075	ENSP00000405149
ENST00000448212	ENSP00000403736
ENST00000430619	ENSP00000402083
ENST00000483472
ENST00000462375
ENST00000485278
ENST00000467848
ENST00000494883

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000030	mannosyltransferase activity
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006493	protein O-linked glycosylation
GO:0007275	multicellular organismal development
GO:0030198	extracellular matrix organization
GO:0035269	protein O-linked mannosylation
GO:0097502	mannosylation

Cellular Component

GO:0001669	acrosomal vesicle
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016529	sarcoplasmic reticulum

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000039254

View Gene Order

ENSBTAG00000010805

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa00514

Other types of O-glycan biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001077365 NM_001077366 NM_001136113 NM_001136114 NM_007171 XM_005272156 XM_005272158 XM_005272159 XM_006716932

HUGO

OMIM

CCDS

CCDS43894 CCDS43895 CCDS48045 CCDS6943

HPRD

06305

IMGT

EMBL

GenPept

RNA Seq Atlas