Entity Details

Primary name GPC4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75487
EntryNameGPC4_HUMAN
FullNameGlypican-4
TaxID9606
Evidenceevidence at protein level
Length556
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesGPC4

GO terms

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GOName
GO:0001523 retinoid metabolic process
GO:0005634 nucleus
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006027 glycosaminoglycan catabolic process
GO:0009897 external side of plasma membrane
GO:0009966 regulation of signal transduction
GO:0009986 cell surface
GO:0016055 Wnt signaling pathway
GO:0016477 cell migration
GO:0043202 lysosomal lumen
GO:0045202 synapse
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
GO:0098978 glutamatergic synapse
GO:0099026 anchored component of presynaptic membrane
GO:0099560 synaptic membrane adhesion
GO:1904929 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway
GO:1905475 regulation of protein localization to membrane
GO:1905606 regulation of presynapse assembly

Subcellular Location

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Subcellular Location
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR001863 GlypicanFamilyFamily
IPR019803 Glypican, conserved siteSiteConserved site
IPR031180 Glypican-4FamilyFamily

Diseases

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Disease IDSourceNameDescription
301026 OMIMKeipert syndrome (KPTS)An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. The disease is caused by variants affecting the gene represented in this entry.