Entrez Summary: This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011].
UniProt Summary: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269|PubMed:20613862, ECO:0000269|PubMed:22022230}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
AP-5 adaptor complex
AP-type membrane coat adaptor complex
double-strand break repair via homologous recombination
recombinational repair
double-strand break repair
DNA recombination
endosomal transport
nuclear speck
DNA repair
DNA metabolic process
cellular response to DNA damage stimulus
protein transport
intracellular transport
peptide transport
amide transport
establishment of protein localization
cellular response to stress
establishment of localization in cell
nitrogen compound transport
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)