Entity Details

Primary name PIGU_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H490
EntryNamePIGU_HUMAN
FullNamePhosphatidylinositol glycan anchor biosynthesis class U protein
TaxID9606
Evidenceevidence at protein level
Length435
SequenceStatuscomplete
DateCreated2003-03-25
DateModified2021-06-02

Ontological Relatives

GenesPIGU

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0006506 GPI anchor biosynthetic process
GO:0016020 membrane
GO:0016255 attachment of GPI anchor to protein
GO:0034394 protein localization to cell surface
GO:0042765 GPI-anchor transamidase complex
GO:0046425 regulation of receptor signaling pathway via JAK-STAT

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR009600 GPI transamidase subunit PIG-UFamilyFamily

Diseases

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Disease IDSourceNameDescription
618590 OMIMNeurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS)An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions