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)
End	65,780,976 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	5,621,289 bp
RNA expression pattern
	Top expressed in
	monocyte; ; bone marrow cells; ; 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
	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
	91056
	381201
	ENSG00000254470
	ENSMUSG00000049562
	Q2VPB7
	Q3TAP4
	NM_138368
	NM_001033448; NM_001362046
	NP_612377
	NP_001028620; NP_001348975
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000254470 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000049562 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ 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. Archived from the original on 2022-02-10. Retrieved 2022-07-09.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ 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.
^ 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
^ 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.
^ "GnomAD".
^ "Loss-of-Function Curations in gnomAD | gnomAD browser".

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000254470 – Ensembl, May 2017

[refGRCm38Ensembl-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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[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. Archived from the original on 2022-02-10. Retrieved 2022-07-09.

[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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[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".

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