Human Gene AP3M1 (uc001jwh.3) Description and Page Index
Description: Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 2, mRNA. RefSeq Summary (NM_012095): 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 it may directly function 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Transcript (Including UTRs) Position: hg19 chr10:75,880,015-75,910,826 Size: 30,812 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr10:75,883,568-75,898,137 Size: 14,570 Coding Exon Count: 8
ID:AP3M1_HUMAN DESCRIPTION: RecName: Full=AP-3 complex subunit mu-1; AltName: Full=AP-3 adapter complex mu3A subunit; AltName: Full=Adapter-related protein complex 3 mu-1 subunit; AltName: Full=Mu-adaptin 3A; AltName: Full=Mu3A-adaptin; FUNCTION: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. SUBUNIT: Adaptor protein complex 3 (AP-3) is an heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta- type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity). SUBCELLULAR LOCATION: Golgi apparatus. SIMILARITY: Belongs to the adaptor complexes medium subunit family. SIMILARITY: Contains 1 MHD (mu homology) domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): AP3M1 CDC HuGE Published Literature: AP3M1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00928 - Adaptor complexes medium subunit family PF01217 - Clathrin adaptor complex small chain
SCOP Domains: 49447 - Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor 64356 - SNARE-like
ModBase Predicted Comparative 3D Structure on Q9Y2T2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.