Entity Details

Primary name PIGH
Entity type gene
Source Source Link

Details

PrimaryID5283
RefseqGeneNG_050632
SymbolPIGH
Namephosphatidylinositol glycan anchor biosynthesis class H
Chromosome14
Location14q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPIGH_HUMAN

GO terms

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GOName
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0003824 catalytic activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006464 cellular protein modification process
GO:0006506 GPI anchor biosynthetic process
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity

Diseases

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Disease IDSourceNameDescription
618010 OMIMGlycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17)An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
PIGHPIGQBioGRID, HPRD, UniProt9463366 details
PIGHPIGABioGRID, HPRD, UniProt16162815 8900170 9463366 details
PIGHVKORC1BioGRID21103663 details
PIGHP2RX4BioGRID, IntAct26186194 28514442 details
PIGHIL18RAPBioGRID, IntAct28514442 details
PIGHPIGPBioGRID, IntAct28514442 details
PIGHPIGCUniProt9463366 details