Entity Details

Primary name CFA69_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA5D8W1
EntryNameCFA69_HUMAN
FullNameCilia- and flagella-associated protein 69
TaxID9606
Evidenceevidence at protein level
Length941
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesCFAP69

GO terms

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GOName
GO:0005737 cytoplasm
GO:0007288 sperm axoneme assembly
GO:0007608 sensory perception of smell
GO:0030317 flagellated sperm motility
GO:0042048 olfactory behavior
GO:0097225 sperm midpiece
GO:0097730 non-motile cilium
GO:1902093 positive regulation of flagellated sperm motility
GO:1905516 positive regulation of fertilization
GO:1990834 response to odorant

Subcellular Location

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Subcellular Location
Cell projection

Domains

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DomainNameCategoryType
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617959 OMIMSpermatogenic failure 24 (SPGF24)An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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