AP5Z1

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]

Description

Adaptor related protein complex 5 subunit zeta 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear speckles

Predicted location

Intracellular

Protein family

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

Chromosome

7 (4775615 - 4794397)

Ensembl ID

ENSG00000242802  (ver. 103.38)

Orthologs

Mouse Ap5z1: ENSMUSG00000039623

UniProt

O43299

neXtProt

NX_O43299

Human splice variants
Mouse splice variants

Protein structure