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AP5B1

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Protein-coding gene in the species Homo sapiens
AP5B1
Identifiers
AliasesAP5B1, AP-5, PP1030, adaptor related protein complex 5 beta 1 subunit, adaptor related protein complex 5 subunit beta 1
External IDsOMIM: 614367; MGI: 2685808; HomoloGene: 16299; GeneCards: AP5B1; OMA:AP5B1 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)
Chromosome 11 (human)Genomic location for AP5B1Genomic location for AP5B1
Band11q13.1Start65,773,898 bp
End65,780,976 bp
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)
Chromosome 19 (mouse)Genomic location for AP5B1Genomic location for AP5B1
Band19|19 AStart5,618,053 bp
End5,621,289 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 19: 5.62 – 5.62 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. 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. 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 and ZFYVE26 with SPG15.

GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 (0.58 - 1.24) for AP5B1.

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".


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