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Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003664 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_003664.4, 419636270
Length 4060 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA.
Product AP-3 complex subunit beta-1 isoform 1
Comment

Summary: 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_003655.3
CDS 177..3461
Misc Feature(1)48..50
Misc Feature(2)48..50
Misc Feature(3)312..1919
Misc Feature(4)312..1919
Misc Feature(5)1002..1004
Misc Feature(6)1002..1004
Misc Feature(7)2001..2003
Misc Feature(8)2001..2003
Misc Feature(9)2424..2426
Misc Feature(10)2430..2432
Exon (1)1..304
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (2)305..380
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (3)381..455
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (4)456..551
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (5)552..712
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (6)713..779
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (7)780..962
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (8)963..1118
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (9)1119..1216
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (10)1217..1271
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (11)1272..1343
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (12)1344..1406
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (13)1407..1539
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (14)1540..1649
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (15)1650..1826
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (16)1827..2013
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (17)2014..2144
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (18)2145..2253
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (19)2254..2425
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (20)2426..2573
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (21)2574..2646
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (22)2647..2753
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (23)2754..2985
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (24)2986..3070
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (25)3071..3168
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (26)3169..3307
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Exon (27)3308..4037
Gene:AP3B1
Gene Synonym:ADTB3; ADTB3A; HPS; HPS2; PE
Translation MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKL DAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTF QRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSL DPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWG QVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLL IRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATM SIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQF AAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEII KHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLG AKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLA QKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEW TPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDS SSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSS DSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSP SLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMV SIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTA SFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPS VIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIG SVLLRELKPVLSQG
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Position Chain Variation Link
complement(214)-g, cdbSNP:139760966
complement(370)-dbSNP:
complement(370)-t, cdbSNP:150651515
complement(479)-dbSNP:
complement(479)-g, adbSNP:115747826
complement(500)-t, cdbSNP:148495384
complement(514)-g, adbSNP:62001053
complement(515)-t, gdbSNP:7706167
complement(536)-g, adbSNP:141822880
complement(564)-dbSNP:
complement(564)-g, adbSNP:138774723
complement(578)-g, adbSNP:144761256
complement(710)-g, adbSNP:199526004
complement(753)-dbSNP:
complement(753)-t, cdbSNP:149521661
complement(857)-dbSNP:
complement(857)-g, adbSNP:200266469
complement(863)-t, cdbSNP:35496909
complement(998)-dbSNP:
complement(998)-g, adbSNP:112652327
complement(999)-t, cdbSNP:140209190
complement(1006)-t, adbSNP:147761913
complement(1031)-t, gdbSNP:79932334
complement(1080)-t, adbSNP:121908905
complement(1087)-g, adbSNP:201075567
complement(1106)-g, adbSNP:139395082
complement(1118)-t, cdbSNP:146871001
complement(1196)-dbSNP:
complement(1196)-t, cdbSNP:145787996
complement(1198)-t, cdbSNP:141832130
complement(1214)-g, adbSNP:4532349
complement(1245)-dbSNP:
complement(1245)-t, cdbSNP:142025324
complement(1251)-t, cdbSNP:148160411
complement(1292)-dbSNP:
complement(1292)-g, cdbSNP:76433453
complement(1294)-t, gdbSNP:187115356
complement(1296)-t, cdbSNP:112094786
complement(1360)-dbSNP:
complement(1360)-t, cdbSNP:145351589
complement(1374)-g, cdbSNP:150000996
complement(1458)-dbSNP:
complement(1458)-t, cdbSNP:201185966
complement(1493)-c, adbSNP:75248449
complement(1519)-t, cdbSNP:201877252
complement(1523)-t, cdbSNP:146295650
complement(1597)-dbSNP:
complement(1597)-g, adbSNP:191850940
complement(1641)-t, cdbSNP:141986317
complement(1653)-dbSNP:
complement(1653)-g, cdbSNP:139969050
complement(1701)-t, cdbSNP:121908906
complement(1702)-g, adbSNP:193920974
complement(1760)-g, adbSNP:2302978
complement(1781)-t, cdbSNP:200769344
complement(1859)-dbSNP:
complement(1859)-g, adbSNP:17192146
complement(1896)-t, cdbSNP:141789572
complement(1915)-t, gdbSNP:121908904
complement(1920)-t, cdbSNP:199766336
complement(1924)-g, adbSNP:148023800
complement(1925)-t, cdbSNP:201238945
complement(1928)-t, adbSNP:201990153
complement(1930)-t, adbSNP:6453373
complement(1974)-c, adbSNP:149263390
complement(2017)-dbSNP:
complement(2017)-c, adbSNP:200393856
complement(2021)-t, adbSNP:138751237
complement(2033)-c, adbSNP:115892142
complement(2049)-t, adbSNP:199908785
complement(2151)-dbSNP:
complement(2151)-t, gdbSNP:121908907
complement(2171)-t, cdbSNP:201097736
complement(2192)-g, adbSNP:42360
complement(2218)-t, cdbSNP:113301033
complement(2255)-dbSNP:
complement(2255)-c, adbSNP:11739508
complement(2257)-t, cdbSNP:201587714
complement(2264)-g, adbSNP:200618231
complement(2288)-g, adbSNP:35976098
complement(2308)-t, adbSNP:145162631
complement(2364)-g, adbSNP:141102178
complement(2384)-t, gdbSNP:78531089
complement(2391..2392)-, gttttdbSNP:138293096
complement(2415)-t, cdbSNP:201886263
complement(2426)-dbSNP:
complement(2426)-g, adbSNP:62001051
complement(2435)-t, adbSNP:1804789
complement(2463)-t, cdbSNP:151082743
complement(2468)-c, adbSNP:200189248
complement(2486)-g, adbSNP:142938290
complement(2493)-t, adbSNP:181965631
complement(2500)-t, adbSNP:62001050
complement(2502)-t, cdbSNP:146829387
complement(2516)-g, adbSNP:199599147
complement(2521)-g, adbSNP:143589037
complement(2529)-g, cdbSNP:200469464
complement(2585..2587)-dbSNP:
complement(2585..2587)-, ttcdbSNP:199702315
complement(2585)-t, cdbSNP:140001728
complement(2600)-g, adbSNP:144240072
complement(2610)-g, adbSNP:200664741
complement(2668)-dbSNP:
complement(2668)-t, adbSNP:149948974
complement(2703)-t, cdbSNP:201609994
complement(2707)-g, adbSNP:139210717
complement(2724)-t, gdbSNP:201936976
complement(2748)-t, cdbSNP:150765181
complement(2752)-t, gdbSNP:1135084
complement(2761)-dbSNP:
complement(2761)-g, adbSNP:146624866
complement(2789)-g, adbSNP:144420604
complement(2837)-t, gdbSNP:139344924
complement(2906)-g, adbSNP:143527588
complement(2934)-c, adbSNP:137863670
complement(2943)-t, cdbSNP:200985176
complement(2945)-t, gdbSNP:201179527
complement(3020)-dbSNP:
complement(3020)-t, adbSNP:199910628
complement(3056)-g, adbSNP:62001052
complement(3087)-dbSNP:
complement(3087)-c, adbSNP:149212770
complement(3091)-t, cdbSNP:139968311
complement(3136)-g, adbSNP:150453581
complement(3171)-dbSNP:
complement(3171)-t, cdbSNP:146503597
complement(3199..3201)-, cagdbSNP:111935323
complement(3201)-, cagdbSNP:77295761
complement(3350)-dbSNP:
complement(3350)-g, cdbSNP:146849359
complement(3380)-g, cdbSNP:143654049
complement(3383)-t, cdbSNP:34089426
complement(3430)-t, cdbSNP:151028592
complement(3441)-g, cdbSNP:137901104
complement(3471)-t, cdbSNP:199521659
complement(3488)-g, adbSNP:200456538
complement(3502)-t, cdbSNP:112214336
complement(3505)-t, cdbSNP:182487478
complement(3568)-t, adbSNP:11552314
complement(3643)-g, adbSNP:190285646
complement(3652)-g, adbSNP:6864605
complement(3840)-t, cdbSNP:115124715
complement(3865)-g, cdbSNP:187770688
complement(3873)-t, gdbSNP:1804790
Gene SymbolAP3B1
Gene SynonymADTB3; ADTB3A; HPS; HPS2; PE
Chromosome5
Locus Map5q14.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001271769 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 2, mRNA. On-demand $1699.00 25
NM_003664 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA. On-demand $1699.00 25
Title Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study .
Author Irvin,M.R., Wineinger,N.E., Rice,T.K., Pajewski,N.M., Kabagambe,E.K., Gu,C.C., Pankow,J., North,K.E., Wilk,J.B., Freedman,B.I., Franceschini,N., Broeckel,U., Tiwari,H.K. and Arnett,D.K.
Journal PLoS ONE 6 (8), E24052 (2011)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release .
Author Azevedo,C., Burton,A., Ruiz-Mateos,E., Marsh,M. and Saiardi,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 106 (50), 21161-21166 (2009)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis .
Author Delevoye,C., Hurbain,I., Tenza,D., Sibarita,J.B., Uzan-Gafsou,S., Ohno,H., Geerts,W.J., Verkleij,A.J., Salamero,J., Marks,M.S. and Raposo,G.
Journal J. Cell Biol. 187 (2), 247-264 (2009)
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 .
Author Feng,L., Seymour,A.B., Jiang,S., To,A., Peden,A.A., Novak,E.K., Zhen,L., Rusiniak,M.E., Eicher,E.M., Robinson,M.S., Gorin,M.B. and Swank,R.T.
Journal Hum. Mol. Genet. 8 (2), 323-330 (1999)
Title Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor .
Author Dell'Angelica,E.C., Shotelersuk,V., Aguilar,R.C., Gahl,W.A. and Bonifacino,J.S.
Journal Mol. Cell 3 (1), 11-21 (1999)
Title Beta3A-adaptin, a subunit of the adaptor-like complex AP-3 .
Author Dell'Angelica,E.C., Ooi,C.E. and Bonifacino,J.S.
Journal J. Biol. Chem. 272 (24), 15078-15084 (1997)
Title Characterization of the adaptor-related protein complex, AP-3 .
Author Simpson,F., Peden,A.A., Christopoulou,L. and Robinson,M.S.
Journal J. Cell Biol. 137 (4), 835-845 (1997)
Title Genetic analysis of human p34CDC2 function in fission yeast .
Author MacNeill,S.A. and Nurse,P.
Journal Mol. Gen. Genet. 240 (3), 315-322 (1993)


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