AP5S1

AP5S1
Identifiers
Aliases	AP5S1, C20orf29, adaptor related protein complex 5 sigma 1 subunit, adaptor related protein complex 5 subunit sigma 1
External IDs	OMIM: 614824; MGI: 1916846; HomoloGene: 23095; GeneCards: AP5S1; OMA:AP5S1 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	3,828,838 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	131,055,434 bp
RNA expression pattern
	Top expressed in
	gonad; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; muscle of thigh; ; vastus lateralis muscle; ; apex of heart; ; gastrocnemius muscle; ; pancreatic ductal cell; ; right adrenal cortex; ; stromal cell of endometrium;
	Top expressed in
	muscle of thigh; ; right kidney; ; crypt of lieberkuhn of small intestine; ; masseter muscle; ; fetal liver hematopoietic progenitor cell; ; granulocyte; ; left lobe of liver; ; jejunum; ; duodenum; ; tibiofemoral joint;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	lysosomal membrane; endosome; late endosome; lysosome; AP-type membrane coat adaptor complex; membrane; late endosome membrane; nucleoplasm; cytoplasm; cytosol;
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
	55317
	69596
	ENSG00000125843
	ENSMUSG00000068264
	Q9NUS5
	Q9D742
	NM_018347; NM_001204446; NM_001204447
	NM_001291031; NM_001291032; NM_027129; NM_001355593
	NP_001191375; NP_001191376; NP_060817
	NP_001277960; NP_001277961; NP_081405; NP_001342522
	Wikidata
View/Edit Human	View/Edit Mouse

AP-5 complex subunit sigma (AP5S1) is a protein that in humans is encoded by the AP5S1 gene.^[5]

Function

The protein encoded by this gene is the small subunit 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 one of the large subunits 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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125843 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068264 – 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.
^ 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.
^ 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.
^ 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125843 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000068264 – 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.

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