Entity Details

Primary name PIGW_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z7B1
EntryNamePIGW_HUMAN
FullNamePhosphatidylinositol-glycan biosynthesis class W protein
TaxID9606
Evidenceevidence at protein level
Length504
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesPIGW

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006505 GPI anchor metabolic process
GO:0006506 GPI anchor biosynthetic process
GO:0016021 integral component of membrane
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0032216 glucosaminyl-phosphatidylinositol O-acyltransferase activity
GO:0072659 protein localization to plasma membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR009447 Phosphatidylinositol anchor biosynthesis protein PIGW/GWT1FamilyFamily

Diseases

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Disease IDSourceNameDescription
616025 OMIMGlycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11)An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PIGW_HUMANWLS_HUMANUniProt28734904 31286866 details