- AP3B1
Adaptor-related protein complex 3, beta 1 subunit, also known as AP3B1, is a human
gene .cite web | title = Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8546| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8546| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Huizing M, Gahl WA |title=Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. |journal=Curr. Mol. Med. |volume=2 |issue= 5 |pages= 451–67 |year= 2003 |pmid= 12125811 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=MacNeill SA, Nurse P |title=Genetic analysis of human p34CDC2 function in fission yeast. |journal=Mol. Gen. Genet. |volume=240 |issue= 3 |pages= 315–22 |year= 1993 |pmid= 8413179 |doi=
*cite journal | author=Simpson F, Peden AA, Christopoulou L, Robinson MS |title=Characterization of the adaptor-related protein complex, AP-3. |journal=J. Cell Biol. |volume=137 |issue= 4 |pages= 835–45 |year= 1997 |pmid= 9151686 |doi=
*cite journal | author=Dell'Angelica EC, Ooi CE, Bonifacino JS |title=Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. |journal=J. Biol. Chem. |volume=272 |issue= 24 |pages= 15078–84 |year= 1997 |pmid= 9182526 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Dell'Angelica EC, Klumperman J, Stoorvogel W, Bonifacino JS |title=Association of the AP-3 adaptor complex with clathrin. |journal=Science |volume=280 |issue= 5362 |pages= 431–4 |year= 1998 |pmid= 9545220 |doi=
*cite journal | author=Feng L, Seymour AB, Jiang S, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 323–30 |year= 1999 |pmid= 9931340 |doi=
*cite journal | author=Dell'Angelica EC, Shotelersuk V, Aguilar RC, "et al." |title=Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. |journal=Mol. Cell |volume=3 |issue= 1 |pages= 11–21 |year= 1999 |pmid= 10024875 |doi=
*cite journal | author=Huizing M, Scher CD, Strovel E, "et al." |title=Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. |journal=Pediatr. Res. |volume=51 |issue= 2 |pages= 150–8 |year= 2002 |pmid= 11809908 |doi=
*cite journal | author=Feng L, Novak EK, Hartnell LM, "et al." |title=The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. |journal=Blood |volume=99 |issue= 5 |pages= 1651–8 |year= 2002 |pmid= 11861280 |doi=
*cite journal | author=Kim YM, Barak LS, Caron MG, Benovic JL |title=Regulation of arrestin-3 phosphorylation by casein kinase II. |journal=J. Biol. Chem. |volume=277 |issue= 19 |pages= 16837–46 |year= 2002 |pmid= 11877451 |doi= 10.1074/jbc.M201379200
*cite journal | author=Dubois T, Howell S, Zemlickova E, Aitken A |title=Identification of casein kinase Ialpha interacting protein partners. |journal=FEBS Lett. |volume=517 |issue= 1-3 |pages= 167–71 |year= 2002 |pmid= 12062430 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Salazar G, Love R, Werner E, "et al." |title=The zinc transporter ZnT3 interacts with AP-3 and it is preferentially targeted to a distinct synaptic vesicle subpopulation. |journal=Mol. Biol. Cell |volume=15 |issue= 2 |pages= 575–87 |year= 2004 |pmid= 14657250 |doi= 10.1091/mbc.E03-06-0401
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Guinn BA, Bland EA, Lodi U, "et al." |title=Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. |journal=Biochem. Biophys. Res. Commun. |volume=335 |issue= 4 |pages= 1293–304 |year= 2005 |pmid= 16112646 |doi= 10.1016/j.bbrc.2005.08.024
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Jung J, Bohn G, Allroth A, "et al." |title=Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. |journal=Blood |volume=108 |issue= 1 |pages= 362–9 |year= 2007 |pmid= 16537806 |doi= 10.1182/blood-2005-11-4377PBB_Controls
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