AP3M1 (original) (raw)

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Protein-coding gene in humans

AP3M1
Identifiers
Aliases AP3M1, adaptor related protein complex 3 mu 1 subunit, adaptor related protein complex 3 subunit mu 1
External IDs OMIM: 610366; MGI: 1929212; HomoloGene: 22693; GeneCards: AP3M1; OMA:AP3M1 - orthologs
Gene location (Human)Chromosome 10 (human)Chr.Chromosome 10 (human)[1]Chromosome 10 (human)Genomic location for AP3M1Genomic location for AP3M1Band10q22.2Start74,120,255 bp[1]End74,150,842 bp[1]
Gene location (Mouse)Chromosome 14 (mouse)Chr.Chromosome 14 (mouse)[2]Chromosome 14 (mouse)Genomic location for AP3M1Genomic location for AP3M1Band14 A3|14 11.58 cMStart21,081,510 bp[2]End21,102,576 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inpancreatic ductal cellmucosa of ileumganglionic eminenceventricular zoneislet of Langerhanssmooth muscle tissuerectumtibialis anterior musclemonocyteappendixTop expressed inventricular zonesecondary oocytespermatocytegenital tuberclezygotetail of embryospermatidatrioventricular junctiongranulocytelensMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein binding Cellular component lysosomal membrane Golgi apparatus lysosome cytoplasmic vesicle membrane membrane cytoplasmic vesicle clathrin adaptor complex axon cytoplasm Biological process anterograde axonal transport protein transport anterograde synaptic vesicle transport protein targeting to lysosome intracellular protein transport vesicle-mediated transport transport viral process Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez2698555946EnsemblENSG00000185009ENSMUSG00000021824UniProtQ9Y2T2Q9JKC8RefSeq (mRNA)NM_012095NM_207012NM_001320263NM_001320264NM_001320265NM_018829RefSeq (protein)NP_001307192NP_001307193NP_001307194NP_036227NP_996895NP_061299Location (UCSC)Chr 10: 74.12 – 74.15 MbChr 14: 21.08 – 21.1 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.[5][6]

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185009 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021824 – 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. ^ Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Mar 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Mol Cell. 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID 10024875.
  6. ^ a b "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit".