AP5M1

AP-5 complex subunit mu (AP5M1) is a protein that in humans is encoded by the AP5M1 gene.[4]

AP5M1
Identifiers
AliasesAP5M1, C14orf108, MUDENG, Mu5, MuD, adaptor related protein complex 5 mu 1 subunit, adaptor related protein complex 5 subunit mu 1
External IDsOMIM: 614368 MGI: 1921635 HomoloGene: 10081 GeneCards: AP5M1
Orthologs
SpeciesHumanMouse
Entrez

55745

74385

Ensembl

ENSG00000053770

n/a

UniProt

Q9H0R1

Q8BJ63

RefSeq (mRNA)

NM_018229

NM_144535
NM_001360070

RefSeq (protein)

NP_060699

NP_653118
NP_001346999

Location (UCSC)Chr 14: 57.27 – 57.3 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The protein encoded by this gene is the medium-sized subunit of the AP5 adaptor complex.[5] 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.[6][7] 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[8] and ZFYVE26 with SPG15 (disease).[9]

References
  1. GRCh38: Ensembl release 89: ENSG00000053770 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. 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.
  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.
  8. 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, retrieved 2022-07-09
  9. 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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