AP3B1

Adaptor-related protein complex 3, beta 1 subunit
Identifiers
Symbols	AP3B1; ADTB3; ADTB3A; HPS; HPS2; PE
External IDs	OMIM: 603401 MGI: 1333879 HomoloGene: 68125 GeneCards: AP3B1 Gene
Gene Ontology Molecular function • protein phosphatase binding Cellular component • Golgi apparatus • AP-3 adaptor complex • clathrin-coated vesicle membrane Biological process • protein targeting to lysosome • intracellular protein transport • endocytosis • blood coagulation • anterograde axon cargo transport • melanosome organization • antigen processing and presentation, exogenous lipid antigen via MHC class Ib • anterograde synaptic vesicle transport • positive regulation of NK T cell differentiation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8546	11774
Ensembl	ENSG00000132842	ENSMUSG00000021686
UniProt	O00203	Q9Z1T1
RefSeq (mRNA)	NM_001271769	NM_009680
RefSeq (protein)	NP_001258698	NP_033810
Location (UCSC)	Chr 5: 77.3 – 77.59 Mb	Chr 13: 94.36 – 94.57 Mb
PubMed search	[1]	[2]

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

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.

Interactions

AP3B1 has been shown to interact with AP3S2.

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome

Further reading

• Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Curr. Mol. Med. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID 12125811. 
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• MacNeill SA, Nurse P (1993). "Genetic analysis of human p34CDC2 function in fission yeast". Mol. Gen. Genet. 240 (3): 315–22. PMID 8413179. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Dell'Angelica EC, Klumperman J, Stoorvogel W, Bonifacino JS (1998). "Association of the AP-3 adaptor complex with clathrin". Science 280 (5362): 431–4. doi:10.1126/science.280.5362.431. PMID 9545220. 
• Feng L, Seymour AB, Jiang S et al. (1999). "The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness". Hum. Mol. Genet. 8 (2): 323–30. doi:10.1093/hmg/8.2.323. PMID 9931340. 
• Dell'Angelica EC, Shotelersuk V, Aguilar RC et al. (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. 
• Huizing M, Scher CD, Strovel E et al. (2002). "Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2". Pediatr. Res. 51 (2): 150–8. doi:10.1203/00006450-200202000-00006. PMID 11809908. 
• Feng L, Novak EK, Hartnell LM et al. (2002). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes". Blood 99 (5): 1651–8. PMID 11861280. 
• Kim YM, Barak LS, Caron MG, Benovic JL (2002). "Regulation of arrestin-3 phosphorylation by casein kinase II". J. Biol. Chem. 277 (19): 16837–46. doi:10.1074/jbc.M201379200. PMID 11877451. 
• Dubois T, Howell S, Zemlickova E, Aitken A (2002). "Identification of casein kinase Ialpha interacting protein partners". FEBS Lett. 517 (1–3): 167–71. doi:10.1016/S0014-5793(02)02614-5. PMID 12062430. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
• Salazar G, Love R, Werner E et al. (2004). "The Zinc Transporter ZnT3 Interacts with AP-3 and It Is Preferentially Targeted to a Distinct Synaptic Vesicle Subpopulation". Mol. Biol. Cell 15 (2): 575–87. doi:10.1091/mbc.E03-06-0401. PMC 329249. PMID 14657250. 
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. 
• Guinn BA, Bland EA, Lodi U et al. (2005). "Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia". Biochem. Biophys. Res. Commun. 335 (4): 1293–304. doi:10.1016/j.bbrc.2005.08.024. PMID 16112646. 
• Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
• Jung J, Bohn G, Allroth A et al. (2007). "Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2". Blood 108 (1): 362–9. doi:10.1182/blood-2005-11-4377. PMC 1895843. PMID 16537806.