Version 5.4
Homo sapiens Protein: PIGV
Summary
InnateDB Protein IDBP-376710.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PIGV
Protein Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000399067
InnateDB Gene IDBG-94722 (PIGV)
Protein Structure
UniProt Annotation
Function Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. {ECO:0000269PubMed:15623507, ECO:0000269PubMed:15720390}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:15623507}; Multi-pass membrane protein {ECO:0000269PubMed:15623507}.
Disease Associations Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. {ECO:0000269PubMed:20802478}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016758 transferase activity, transferring hexosyl groups
Biological Process
GO:0006506 GPI anchor biosynthetic process
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR007315 GPI mannosyltransferase 2
PFAM PF04188
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt
PhosphoSite PhosphoSite-Q9NUD9
TrEMBL
UniProt Splice Variant
Entrez Gene 55650
UniGene Hs.600127
RefSeq
HUGO HGNC:26031
OMIM 610274
CCDS
HPRD 07912
IMGT
EMBL
GenPept

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca