Entity Details

Primary name CF251_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TBY9
EntryNameCF251_HUMAN
FullNameCilia- and flagella-associated protein 251
TaxID9606
Evidenceevidence at protein level
Length1149
SequenceStatuscomplete
DateCreated2007-07-24
DateModified2021-06-02

Ontological Relatives

GenesCFAP251

GO terms

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GOName
GO:0003341 cilium movement
GO:0005930 axoneme
GO:0030317 flagellated sperm motility
GO:0031514 motile cilium
GO:0036126 sperm flagellum

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR011047 Quinoprotein alcohol dehydrogenase-like superfamilyFamilyHomologous superfamily
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618152 OMIMSpermatogenic failure 33 (SPGF33)An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CF251_HUMANHSPB1_HUMANBioGRID, IntAct25277244 details
CF251_HUMANCLK1_HUMANBioGRID26167880 details