AP3B1

From Wikipedia, the free encyclopedia

Adaptor-related protein complex 3, beta 1 subunit

Identifiers

AP3B1; HPS; PE; HPS2; ADTB3; ADTB3A

External IDs

OMIM: 603401 MGI: 1333879 HomoloGene: 68125

Gene ontology
Molecular Function:	• binding
Cellular Component:	• Golgi apparatus • coated pit
Biological Process:	• protein targeting to lysosome • intracellular protein transport • endocytosis • antigen processing and presentation • antigen processing and presentation, exogenous lipid antigen via MHC class Ib • positive regulation of NK T cell differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003664 (mRNA)
NP_003655 (protein)

NM_009680 (mRNA)
NP_033810 (protein)

Location

Chr 5: 77.33 - 77.63 Mb

Chr 13: 95.46 - 95.67 Mb

Pubmed search

[1]

[2]

Adaptor-related protein complex 3, beta 1 subunit, also known as AP3B1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit.

[edit] Further reading

Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.". Curr. Mol. Med. 2 (5): 451-67. 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. 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.
Simpson F, Peden AA, Christopoulou L, Robinson MS (1997). "Characterization of the adaptor-related protein complex, AP-3.". J. Cell Biol. 137 (4): 835-45. PMID 9151686.
Dell'Angelica EC, Ooi CE, Bonifacino JS (1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3.". J. Biol. Chem. 272 (24): 15078-84. PMID 9182526.
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 16537806.