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
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
protein-O-mannosyltransferase 1
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Other types of O-glycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL Q5JT05
UniProt Splice Variant
Entrez Gene 10585
UniGene
RefSeq NM_001077366 NM_007171 NM_001077365 NM_001136113 NM_001136114 XM_006716932 XM_005272159 XM_005272158 XM_005272156
HUGO HGNC:9202
OMIM 607423
CCDS CCDS43895 CCDS6943 CCDS43894 CCDS48045
HPRD 06305
IMGT
EMBL AL358781
GenPept
RNA Seq Atlas 10585