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. [provided by RefSeq, Sep 2016]

Description

Spermatogenesis associated 5

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (122923070 - 123319433)

Ensembl ID

ENSG00000145375  (ver. 103.38)

Orthologs

Mouse Spata5: ENSMUSG00000027722

UniProt

Q8NB90

neXtProt

NX_Q8NB90

Human splice variants
Mouse splice variants

Protein structure