Entity Details

Primary name PGAP3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96FM1
EntryNamePGAP3_HUMAN
FullNamePost-GPI attachment to proteins factor 3
TaxID9606
Evidenceevidence at protein level
Length320
SequenceStatuscomplete
DateCreated2008-06-10
DateModified2021-06-02

Ontological Relatives

GenesPGAP3

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0006505 GPI anchor metabolic process
GO:0006506 GPI anchor biosynthetic process
GO:0016021 integral component of membrane
GO:0016788 hydrolase activity, acting on ester bonds
GO:0031227 intrinsic component of endoplasmic reticulum membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR007217 Per1-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
615716 OMIMHyperphosphatasia with mental retardation syndrome 4 (HPMRS4)An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PGAP3_HUMANCREB3_HUMANIntAct31515488 details
PGAP3_HUMANTF3C3_HUMANIntAct32814053 details