AP5Z1

GENE INFORMATION

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Gene name

AP5Z1 (HGNC Symbol)

Synonyms

KIAA0415, SPG48, zeta

Description

Adaptor-related protein complex 5, zeta 1 subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

7

Cytoband

p22.1

Chromosome location (bp)

4815253 - 4833943

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000242802 (version 75.37)

Entrez gene

9907

UniProt

O43299 (UniProt - Evidence at protein level)

neXtProt

NX_O43299

Antibodypedia

AP5Z1 antibodies
 

PROTEIN VIEW

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AP5Z1-001
 
AP5Z1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AP5Z1-001 ENSP00000297562
ENST00000348624
O43299
Show all »
Show » Show » 807 88.6 No 0
AP5Z1-201 ENSP00000384980
ENST00000401897
O43299
Show all »
Show » Show » 613 67.5 No 0