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AP5Z1
Identifiers
Aliases	AP5Z1, KIAA0415, SPG48, zeta, adaptor related protein complex 5 zeta 1 subunit, adaptor related protein complex 5 subunit zeta 1
External IDs	OMIM: 613653; MGI: 1924908; HomoloGene: 18213; GeneCards: AP5Z1; OMA:AP5Z1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7p22.1 Start 4,775,615 bp End 4,794,397 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 G2 Start 142,449,699 bp End 142,464,465 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte tendon of biceps brachii buccal mucosa cell skin of leg right adrenal cortex mucosa of transverse colon spleen left adrenal gland left adrenal cortex sural nerve Top expressed in otic vesicle granulocyte yolk sac Rostral migratory stream Paneth cell lumbar subsegment of spinal cord calvaria right kidney fossa mesenteric lymph nodes More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm AP-5 adaptor complex AP-type membrane coat adaptor complex nucleus nucleoplasm nuclear speck Biological process protein transport endosomal transport double-strand break repair via homologous recombination DNA repair cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9907 231855 Ensembl ENSG00000242802 ENSMUSG00000039623 UniProt O43299 Q3U829 RefSeq (mRNA) NM_014855 NM_001364858 NM_172725 RefSeq (protein) NP_055670 NP_001351787 NP_766313 Location (UCSC) Chr 7: 4.78 – 4.79 Mb Chr 5: 142.45 – 142.46 Mb PubMed search
Wikidata
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AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the AP5Z1 gene.

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. Damaging variants in this gene are associated with SPG48, a type of hereditary spastic paraplegia.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000242802 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000039623 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hirst, Jennifer; Barlow, Lael D.; Francisco, Gabriel Casey; Sahlender, Daniela A.; Seaman, Matthew N. J.; Dacks, Joel B.; Robinson, Margaret S. (2011-10-11). "The fifth adaptor protein complex". PLOS Biology. 9 (10): e1001170. doi:10.1371/journal.pbio.1001170. ISSN 1545-7885. PMC 3191125. PMID 22022230.
6. Słabicki, Mikołaj; Theis, Mirko; Krastev, Dragomir B.; Samsonov, Sergey; Mundwiller, Emeline; Junqueira, Magno; Paszkowski-Rogacz, Maciej; Teyra, Joan; Heninger, Anne-Kristin; Poser, Ina; Prieur, Fabienne (2010-06-29). "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia". PLOS Biology. 8 (6): e1000408. doi:10.1371/journal.pbio.1000408. ISSN 1545-7885. PMC 2893954. PMID 20613862.
7. Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan (2016-08-25). "Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)". Neurology. Genetics. 2 (5): e98. doi:10.1212/NXG.0000000000000098. ISSN 2376-7839. PMC 5001803. PMID 27606357.

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