help  | about  | cite  | software

Gene : AP5Z1 Homo sapiens

Name  ? adaptor related protein complex 5 subunit zeta 1 Cytological Location  7p22.1
Brief Description  adaptor related protein complex 5 subunit zeta 1
Description  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]
  • synonyms:
  • SPG48,
  • KIAA0415,
  • adaptor-related protein complex 5, zeta 1 subunit,
  • zeta,
  • HGNC:22197,
  • zeta,
  • SPG48,
  • AB007875,
  • KIAA0415,
  • AP5Z1,
  • NM_001364858,
  • adaptor related protein complex 5 zeta 1 subunit,
  • uc003sne.4,
  • OTTHUMG00000151754
  • identifiers:
  • 9907,
  • ENSG00000242802,
  • AP5Z1

Genome feature

Region: gene ? Length: 18775  
Location: 7:4775623-4794397 Cyto location: 7p22.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results