Entity Details

Primary name FA92A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA1XBS5
EntryNameFA92A_HUMAN
FullNameProtein FAM92A
TaxID9606
Evidenceevidence at protein level
Length289
SequenceStatuscomplete
DateCreated2007-05-15
DateModified2021-06-02

Ontological Relatives

GenesCIBAR1

GO terms

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GOName
GO:0005543 phospholipid binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
GO:0005814 centriole
GO:0007007 inner mitochondrial membrane organization
GO:0035108 limb morphogenesis
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0045880 positive regulation of smoothened signaling pathway
GO:0060271 cilium assembly
GO:0061024 membrane organization
GO:0097546 ciliary base

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR009602 FAM92 proteinFamilyFamily
IPR027267 AH/BAR domain superfamilyFamilyHomologous superfamily
IPR035590 FAM92, BAR domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618219 OMIMPolydactyly, postaxial, A9 (PAPA9)A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

4 interactions