Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium (PubMed:23990561). Binds beta-tubulin via its basic region (PubMed:23990561). Required for ciliogenesis (PubMed:23990561). Essential for flagellogenesis during spermatogenesis (PubMed:33689014)

Cell projection, ciliumCytoplasmic vesicleCell projection, cilium, flagellumCytoplasmic vesicle, secretory vesicle, acrosome

Bardet-Biedl syndrome 22

A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Involved in sperm flagellum assembly (PubMed:34792097, PubMed:35174165). Plays an essential role in the formation of the radial spokes in flagellum axoneme (By similarity)

Cytoplasm, cytoskeleton, flagellum axonemeCytoplasm, cytoskeleton, cilium axonemeCell projection, ciliumCytoplasm, cytoskeleton

Spermatogenic failure 84

An autosomal recessive male infertility disorder characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility. Some patients also have a reduced sperm count.

Plays a role in flagellar formation and sperm motility

Cytoplasm, cytoskeleton, flagellum basal body

Spermatogenic failure, X-linked, 3

An infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, coiled, and irregular-caliber flagella.

Essential for the normal assembly and function of sperm flagella axonemes

Cell projection, cilium, flagellum

Spermatogenic failure 65

An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent due to multiple morphologic abnormalities of the flagella.

Essential for male fertility and sperm mitochondrial sheath formation (By similarity). Required for proper mitochondrial elongation and coiling along the flagellum during the formation of the mitochondrial sheath (By similarity). Facilitates the growth and aggressiveness of neuroblastoma cells (PubMed:30026490). Increases the EZH2 activity and H3K27me3 levels in a RBBP4-dependent manner, and facilitates the enrichment of polycomb repressive complex 2 and H3K27me3 on gene promoters, resulting in

NucleusMitochondrion outer membrane

Spermatogenic failure 90

An autosomal recessive male infertility disorder due to severely reduced progressive motility of sperm.

Structural component of sperm fibrous sheath (By similarity). Required for the formation of the subcellular structure of the sperm flagellum, sperm motility and male fertility (PubMed:35228300)

Cytoplasmic vesicle, secretory vesicle, acrosomeCell projection, cilium, flagellum

Spermatogenic failure 82

An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella.

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (PubMed:34237282). Probable inner arm dynein heavy chain

Cytoplasm, cytoskeleton, cilium axoneme

Spermatogenic failure 56

An autosomal recessive male infertility disorder characterized by severely reduced sperm motility, due to multiple morphologic abnormalities of the flagella.

Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Also plays a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB,

NucleusChromosomeChromosome, centromereCytoplasm, cytoskeleton, spindle

Spermatogenic failure 5

An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome.