Entity Details

Primary name CFA43_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NDM7
EntryNameCFA43_HUMAN
FullNameCilia- and flagella-associated protein 43
TaxID9606
Evidenceevidence at transcript level
Length1665
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesCFAP43

GO terms

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GOName
GO:0003356 regulation of cilium beat frequency
GO:0005576 extracellular region
GO:0005930 axoneme
GO:0007288 sperm axoneme assembly
GO:0007420 brain development
GO:0044458 motile cilium assembly
GO:0060271 cilium assembly
GO:0090660 cerebrospinal fluid circulation
GO:0097729 9+2 motile cilium
GO:0120197 mucociliary clearance

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR039692 Cilia- and flagella-associated protein 43FamilyFamily

Diseases

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Disease IDSourceNameDescription
617592 OMIMSpermatogenic failure 19 (SPGF19)An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The disease is caused by variants affecting the gene represented in this entry.
236690 OMIMHydrocephalus, normal pressure, 1 (HYDNP1)An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CFA43_HUMANSEC13_HUMANBioGRID32296183 details