AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.[1][2][3]
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.[3]
Interactions
AP3B1 has been shown to interact with AP3S2.[1]
References
- ^ a b Dell'Angelica EC, Ooi CE, Bonifacino JS (Jul 1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3". J Biol Chem 272 (24): 15078–84. doi:10.1074/jbc.272.24.15078. PMID 9182526.
- ^ Simpson F, Peden AA, Christopoulou L, Robinson MS (Jun 1997). "Characterization of the Adaptor-related Protein Complex, AP-3". J Cell Biol 137 (4): 835–45. doi:10.1083/jcb.137.4.835. PMC 2139840. PMID 9151686.
- ^ a b "Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit".
External links
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.
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