Homo sapiens Gene: PIGV
Summary
InnateDB Gene IDBG-94722.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PIGV
Gene Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000060642
Encoded Proteins
phosphatidylinositol glycan anchor biosynthesis, class V
phosphatidylinositol glycan anchor biosynthesis, class V
phosphatidylinositol glycan anchor biosynthesis, class V
phosphatidylinositol glycan anchor biosynthesis, class V
phosphatidylinositol glycan anchor biosynthesis, class V
phosphatidylinositol glycan anchor biosynthesis, class V
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:26787472-26798398
Strand Forward strand
Band p36.11
Transcripts
ENST00000078527 ENSP00000078527
ENST00000374145 ENSP00000363260
ENST00000430292 ENSP00000399067
ENST00000431541 ENSP00000388425
ENST00000455364 ENSP00000406080
ENST00000472757 ENSP00000436884
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:0000030 mannosyltransferase activity
GO:0016758 transferase activity, transferring hexosyl groups
Biological Process
GO:0006501 C-terminal protein lipidation
GO:0006506 GPI anchor biosynthetic process
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0097502 mannosylation
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Synthesis of glycosylphosphatidylinositol (GPI) pathway
Post-translational modification: synthesis of GPI-anchored proteins pathway
Post-translational protein modification pathway
Metabolism of proteins pathway
KEGG
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 55650
UniGene Hs.259605 Hs.600127
RefSeq NM_001202554 NM_017837
HUGO HGNC:26031
OMIM 610274
CCDS CCDS287
HPRD 07912
IMGT
EMBL
GenPept
RNA Seq Atlas 55650