CABS1

calcium binding protein, spermatid associated 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000145309
UniProt:: Q96KC9
OMIM:: 618600
Synonyms:: C4ORF35, CLPH, FLJ32897, NYD-SP26

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.96) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

Male Infertility

References: PMID:35207567

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:33440775

Function

The genetic loss of Cabs1 did not affect testicular and epididymal development; however, male mice exhibited significantly impaired sperm tail structure and subfertility. Ultrastructural analysis revealed defects in sperm flagellar differentiation leading to an abnormal annulus and disorganization of the midpiece–principal piece junction, which may explain the high proportion of sperm with a bent tail(PMID: 33440775).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.