Contents

AP3M1

Protein-coding gene in the species Homo sapiens

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) Chr. Chromosome 10 (human)[1] Band 10q22.2 Start 74,120,255 bp[1] End 74,150,842 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 A3|14 11.58 cM Start 21,081,510 bp[2] End 21,102,576 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell mucosa of ileum ganglionic eminence ventricular zone islet of Langerhans smooth muscle tissue rectum tibialis anterior muscle monocyte appendix Top expressed in ventricular zone secondary oocyte spermatocyte genital tubercle zygote tail of embryo spermatid atrioventricular junction granulocyte lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 26985 55946 Ensembl ENSG00000185009 ENSMUSG00000021824 UniProt Q9Y2T2 Q9JKC8 RefSeq (mRNA) NM_012095 NM_207012 NM_001320263 NM_001320264 NM_001320265 NM_018829 RefSeq (protein) NP_001307192 NP_001307193 NP_001307194 NP_036227 NP_996895 NP_061299 Location (UCSC) Chr 10: 74.12 – 74.15 Mb Chr 14: 21.08 – 21.1 Mb PubMed search [3] [4]
Wikidata
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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]

References[edit]

External links[edit]

• Human AP3M1 genome location and AP3M1 gene details page in the UCSC Genome Browser.

Further reading[edit]

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