Entity Details

Primary name PIGY_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ3MUY2
EntryNamePIGY_HUMAN
FullNamePhosphatidylinositol N-acetylglucosaminyltransferase subunit Y
TaxID9606
Evidenceevidence at protein level
Length71
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesPIGY

GO terms

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GOName
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0006506 GPI anchor biosynthetic process
GO:0016021 integral component of membrane
GO:0016254 preassembly of GPI anchor in ER membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR029164 Phosphatidylinositol N-acetylglucosaminyltransferase subunit YFamilyFamily
IPR033535 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y, chordatesFamilyFamily

Diseases

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Disease IDSourceNameDescription
616809 OMIMHyperphosphatasia with mental retardation syndrome 6 (HPMRS6)An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions