CFAP91

cilia and flagella associated protein 91

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000183833
OMIM:
609910
Synonyms:
AAT-1, AAT1, AAT1ALPHA, C3ORF15, CAM-IP2, MAATS1, SPATA26

Phenotypes

Mouse phenotype:
abnormal brain morphology, hydrocephalus, small testis, male infertility, abnormal testis morphology

Ciliopathy associations

  • Male Infertility

References: PMID:40921716

Subcellular localization

flagella

References: PMID:39743588

Functional category

  • Ciliary assembly/disassembly

Function

The C-terminal helical domain of CFAP91, one of the base proteins of RS3 (ref. 1), plays a central role in RS3 assembly by serving as a platform onto which many other proteins dock (Supplementary Video 1). This typically occurs through RIIa or DPY30 domains, similar to how RS1/RS2 proteins assemble around RSPH3. However, unlike RSPH3, which is present in two copies leading to the RS1/RS2 heads having pseudo-twofold symmetry, CFAP91 is present in only one copy and thus the RS3 head is asymmetric (Fig. 3)(39743588).