AP3B1

AP3B1
Identifiers
Aliases	AP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
External IDs	OMIM: 603401; MGI: 1333879; HomoloGene: 68125; GeneCards: AP3B1; OMA:AP3B1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q14.1 Start 78,000,522 bp End 78,294,762 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 C3|13 49.22 cM Start 94,495,468 bp End 94,702,825 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii Achilles tendon islet of Langerhans anterior pituitary monocyte rectum stromal cell of endometrium beta cell mucosa of transverse colon smooth muscle tissue Top expressed in choroid plexus of fourth ventricle Ileal epithelium genital tubercle transitional epithelium of urinary bladder seminiferous tubule secondary oocyte tail of embryo perirhinal cortex entorhinal cortex lactiferous gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein phosphatase binding GTP-dependent protein binding protein binding Cellular component clathrin-coated vesicle membrane lysosomal membrane membrane coat cytoplasmic vesicle AP-3 adaptor complex Golgi apparatus membrane clathrin adaptor complex axon cytoplasm synapse postsynapse Biological process protein targeting to lysosome protein transport intracellular protein transport antigen processing and presentation, exogenous lipid antigen via MHC class Ib vesicle-mediated transport melanosome organization positive regulation of NK T cell differentiation antigen processing and presentation blood coagulation anterograde axonal transport anterograde synaptic vesicle transport transport synaptic vesicle budding from endosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8546 11774 Ensembl ENSG00000132842 ENSMUSG00000021686 UniProt O00203 Q9Z1T1 RefSeq (mRNA) NM_001271769 NM_003664 NM_009680 RefSeq (protein) NP_001258698 NP_003655 NP_033810 Location (UCSC) Chr 5: 78 – 78.29 Mb Chr 13: 94.5 – 94.7 Mb PubMed search
Wikidata
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AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

Function

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
• Human AP3B1 genome location and AP3B1 gene details page in the UCSC Genome Browser.

Further reading

• Huizing M, Gahl WA (Aug 2002). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Current Molecular Medicine. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID 12125811.
• Maruyama K, Sugano S (Jan 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 (Sep 1993). "Genetic analysis of human p34CDC2 function in fission yeast". Molecular & General Genetics. 240 (3): 315–22. doi:10.1007/BF00280381. PMID 8413179. S2CID 20544877.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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 (Apr 1998). "Association of the AP-3 adaptor complex with clathrin". Science. 280 (5362): 431–4. Bibcode:1998Sci...280..431D. doi:10.1126/science.280.5362.431. PMID 9545220.
• Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT (Feb 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" (PDF). Human Molecular Genetics. 8 (2): 323–30. doi:10.1093/hmg/8.2.323. PMID 9931340.
• Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Jan 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Molecular Cell. 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID 10024875.
• Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA (Feb 2002). "Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2". Pediatric Research. 51 (2): 150–8. doi:10.1203/00006450-200202000-00006. PMID 11809908.
• Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT (Mar 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. doi:10.1182/blood.V99.5.1651.h8001651_1651_1658. PMID 11861280. S2CID 10081541.
• Kim YM, Barak LS, Caron MG, Benovic JL (May 2002). "Regulation of arrestin-3 phosphorylation by casein kinase II". The Journal of Biological Chemistry. 277 (19): 16837–46. doi:10.1074/jbc.M201379200. PMID 11877451.
• Dubois T, Howell S, Zemlickova E, Aitken A (Apr 2002). "Identification of casein kinase Ialpha interacting protein partners". FEBS Letters. 517 (1–3): 167–71. doi:10.1016/S0014-5793(02)02614-5. PMID 12062430. S2CID 84792445.
• Salazar G, Love R, Werner E, Doucette MM, Cheng S, Levey A, Faundez V (Feb 2004). "The zinc transporter ZnT3 interacts with AP-3 and it is preferentially targeted to a distinct synaptic vesicle subpopulation". Molecular Biology of the Cell. 15 (2): 575–87. doi:10.1091/mbc.E03-06-0401. PMC 329249. PMID 14657250.
• Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells JW, Banham AH, Mufti GJ (Oct 2005). "Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia". Biochemical and Biophysical Research Communications. 335 (4): 1293–304. doi:10.1016/j.bbrc.2005.08.024. PMID 16112646.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C (Jul 2006). "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.