Entity Details

Primary name APCD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8J025
EntryNameAPCD1_HUMAN
FullNameProtein APCDD1
TaxID9606
Evidenceevidence at protein level
Length514
SequenceStatuscomplete
DateCreated2006-03-07
DateModified2021-06-02

Ontological Relatives

GenesAPCDD1

GO terms

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GOName
GO:0001942 hair follicle development
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016055 Wnt signaling pathway
GO:0017147 Wnt-protein binding
GO:0030178 negative regulation of Wnt signaling pathway
GO:0042802 identical protein binding

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR029405 APCDD1 domainDomainDomain
IPR042425 Protein APCDD1FamilyFamily

Diseases

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Disease IDSourceNameDescription
605389 OMIMHypotrichosis 1 (HYPT1)A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.