Entity Details

Primary name CFAP44
Entity type gene
Source Source Link

Details

PrimaryID55779
RefseqGene
SymbolCFAP44
Namecilia and flagella associated protein 44
Chromosome3
Location3q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCFA44_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0007288 sperm axoneme assembly
GO:0008233 peptidase activity
GO:0031514 motile cilium
GO:0060271 cilium assembly
GO:0060285 cilium-dependent cell motility

Diseases

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Disease IDSourceNameDescription
617593 OMIMSpermatogenic failure 20 (SPGF20)An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 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.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
CFAP44GADD45GBioGRID, IntAct32296183 details
CFAP44GANBioGRID26460568 details
CFAP44HIF1ANBioGRID, IntAct26972000 details
CFAP44H2BC9BioGRID, IntAct30021884 details
CFAP44RSL1D1BioGRID, IntAct30021884 details
CFAP44CYLDBioGRID27591049 details
CFAP44RNF123BioGRID29676528 details