Description: Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA. RefSeq Summary (NM_003664): This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. Transcript (Including UTRs) Position: hg19 chr5:77,298,150-77,590,579 Size: 292,430 Total Exon Count: 27 Strand: - Coding Region Position: hg19 chr5:77,298,726-77,590,403 Size: 291,678 Coding Exon Count: 27
ID:AP3B1_HUMAN DESCRIPTION: RecName: Full=AP-3 complex subunit beta-1; AltName: Full=Adapter-related protein complex 3 subunit beta-1; AltName: Full=Adaptor protein complex AP-3 subunit beta-1; AltName: Full=Beta-3A-adaptin; AltName: Full=Clathrin assembly protein complex 3 beta-1 large chain; FUNCTION: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. 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: AP-3 associates with the BLOC-1 complex (By similarity). 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). SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed. PTM: Phosphorylated on serine residues. DISEASE: Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. SIMILARITY: Belongs to the adaptor complexes large subunit family. WEB RESOURCE: Name=AP3B1base; Note=AP3B1 mutation db; URL="http://bioinf.uta.fi/AP3B1base/"; WEB RESOURCE: Name=Mutations of the ADTB3A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/adtb3mut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=AP3B1 mutations; URL="http://albinismdb.med.umn.edu/hps2mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AP3B1";
Genetic Association Studies of Complex Diseases and Disorders
Carotid Artery Diseases Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics.
The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
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.
ModBase Predicted Comparative 3D Structure on O00203
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.