Entity Details

Primary name PIGV
Entity type gene
Source Source Link

Details

PrimaryID55650
RefseqGeneNG_028133
SymbolPIGV
Namephosphatidylinositol glycan anchor biosynthesis class V
Chromosome1
Location1p36.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPIGV_HUMAN

GO terms

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GOName
GO:0000009 alpha-1,6-mannosyltransferase activity
GO:0000030 mannosyltransferase activity
GO:0004376 glycolipid mannosyltransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006506 GPI anchor biosynthetic process
GO:0016021 integral component of membrane
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0031501 mannosyltransferase complex

Diseases

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Disease IDSourceNameDescription
239300 OMIMHyperphosphatasia with mental retardation syndrome 1 (HPMRS1)A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
PIGVSERPINH1IntAct32814053 details
PIGVTGFBR2IntAct32814053 details
PIGVCBX5IntAct32814053 details
PIGVBAG3BioGRID23824909 details