SPATA5

This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants.

Spermatogenesis Associated 5

ATP-dependent chaperone, which plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024).
Acts together with SPATA5L1, C1orf109 and CINP (PubMed:35354024).
May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By similarity).

Biological Process brain developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process ribosomal large subunit biogenesisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process spermatogenesisIEA:UniProtKB-KW

Cytoplasm
Mitochondrion
Cytoplasm, cytoskeleton, spindle

Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB):
An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.