AP5B1

AP5B1
Identifiers
Aliases	AP5B1 , AP-5, PP1030, adaptor related protein complex 5 beta 1 subunit, adaptor related protein complex 5 subunit beta 1
External IDs	OMIM: 614367; MGI: 2685808; HomoloGene: 16299; GeneCards: AP5B1; OMA:AP5B1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.1 Start 65,773,898 bp [1] End 65,780,976 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 5,618,053 bp [2] End 5,621,289 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte bone marrow cell blood granulocyte pancreatic ductal cell gastrocnemius muscle right lung mucosa of transverse colon upper lobe of left lung buccal mucosa cell Top expressed in granulocyte spermatocyte gastrula seminiferous tubule right kidney bone marrow proximal tubule submandibular gland jejunum otic vesicle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component lysosomal membrane AP-type membrane coat adaptor complex Biological process endosomal transport protein transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 91056 381201 Ensembl ENSG00000254470 ENSMUSG00000049562 UniProt Q2VPB7 Q3TAP4 RefSeq (mRNA) NM_138368 NM_001033448 NM_001362046 RefSeq (protein) NP_612377 NP_001028620 NP_001348975 Location (UCSC) Chr 11: 65.77 – 65.78 Mb Chr 19: 5.62 – 5.62 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

AP-5 complex subunit beta (AP5B1) is a protein that in humans is encoded by the AP5B1 gene. ^[5]

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. ^[6] Variants in this gene have not been implicated in any disease but damaging variants in AP5Z1, the gene encoding the other large subunit in this complex, are associated with SPG48, a type of hereditary spastic paraplegia. ^{[7] [8]} In addition, damaging variants in the genes encoding two proteins that stably associate with the AP-5 adaptor complex are also associated with forms of hereditary spastic paraplegia - SPG11 with the disease of the same name ^[9] and ZFYVE26 with SPG15. ^[10]

GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 (0.58 - 1.24) for AP5B1. ^{[11] [12]}

References

1. GRCh38: Ensembl release 89: ENSG00000254470 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049562 – 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. Hirst, Jennifer; Irving, Carol; Borner, Georg H. H. (2012-11-21). "Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia". Traffic. 14 (2): 153–164. doi: 10.1111/tra.12028 . ISSN   1600-0854. PMID   23167973. S2CID   13766991.
7. 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.
8. 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.
9. Stevanin, Giovanni (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Spastic Paraplegia 11", GeneReviews, Seattle (WA): University of Washington, Seattle, PMID   20301389, archived from the original on 2022-01-22, retrieved 2022-07-09
10. Hanein, Sylvain; Martin, Elodie; Boukhris, Amir; Byrne, Paula; Goizet, Cyril; Hamri, Abdelmadjid; Benomar, Ali; Lossos, Alexander; Denora, Paola; Fernandez, José; Elleuch, Nizar (April 2008). "Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome". American Journal of Human Genetics. 82 (4): 992–1002. doi:10.1016/j.ajhg.2008.03.004. ISSN   1537-6605. PMC   2427184 . PMID   18394578.
11. "GnomAD".
12. "Loss-of-Function Curations in gnomAD | gnomAD browser".