Entity Details

Primary name PIGS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96S52
EntryNamePIGS_HUMAN
FullNameGPI transamidase component PIG-S
TaxID9606
Evidenceevidence at protein level
Length555
SequenceStatuscomplete
DateCreated2002-07-11
DateModified2021-06-02

Ontological Relatives

GenesPIGS

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016255 attachment of GPI anchor to protein
GO:0042765 GPI-anchor transamidase complex

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR019540 Phosphatidylinositol-glycan biosynthesis class S proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
618143 OMIMGlycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18)An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.