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Database:

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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu21104 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu21104C Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, mRNA. Customized vector On-demand $1699.00 25

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_003664.4, 419636270
Length 3285 bp
Structure linear
Update Date 05-MAY-2014
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)<2361..2567
Misc Feature(10)2424..2426
Misc Feature(11)2430..2432
Misc Feature(12)2616..3050
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(259)-c, adbSNP:377426067
complement(286)-t, adbSNP:372674173
complement(370)-dbSNP:
complement(370)-t, cdbSNP:150651515
complement(377)-t, adbSNP:368888623
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(668)-t, cdbSNP:375570043
complement(710)-g, adbSNP:199526004
complement(753)-dbSNP:
complement(753)-t, cdbSNP:149521661
complement(778)-g, adbSNP:368831977
complement(798)-dbSNP:
complement(798)-t, cdbSNP:371788895
complement(856)-t, cdbSNP:367631130
complement(857)-g, adbSNP:200266469
complement(863)-t, cdbSNP:35496909
complement(903)-c, adbSNP:370551459
complement(933)-g, adbSNP:367887459
complement(998)-dbSNP:
complement(998)-g, adbSNP:112652327
complement(999)-t, cdbSNP:140209190
complement(1006)-t, adbSNP:147761913
1031+g, tdbSNP:79932334
1080+a, tdbSNP:121908905
complement(1087)-g, adbSNP:201075567
complement(1106)-g, adbSNP:139395082
complement(1118)-t, cdbSNP:146871001
complement(1144)-dbSNP:
complement(1144)-t, cdbSNP:375726084
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(1272)-dbSNP:
complement(1272)-t, cdbSNP:370883425
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(1621)-t, cdbSNP:370497154
complement(1638)-t, cdbSNP:370362655
complement(1641)-t, cdbSNP:141986317
complement(1653)-dbSNP:
complement(1653)-g, cdbSNP:139969050
1701+c, tdbSNP:121908906
1702+a, gdbSNP:193920974
complement(1747)-t, cdbSNP:377659889
1760+a, gdbSNP:2302978
complement(1781)-t, cdbSNP:200769344
complement(1784)-t, cdbSNP:376737882
complement(1859)-dbSNP:
complement(1859)-g, adbSNP:17192146
complement(1880)-g, adbSNP:376978572
complement(1896)-t, cdbSNP:141789572
1915+g, tdbSNP: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(1990)-t, gdbSNP:374289196
complement(2017)-dbSNP:
complement(2017)-c, adbSNP:200393856
complement(2021)-t, adbSNP:138751237
complement(2033)-c, adbSNP:115892142
complement(2049)-t, adbSNP:199908785
complement(2054)-g, adbSNP:371915442
complement(2108)-g, adbSNP:368771979
complement(2121)-g, cdbSNP:370293290
2151+dbSNP:
2151+g, tdbSNP:121908907
complement(2171)-t, cdbSNP:201097736
complement(2192)-g, adbSNP:42360
complement(2201)-g, adbSNP:370684531
complement(2206)-t, gdbSNP:377485358
complement(2218)-t, cdbSNP:113301033
complement(2255)-dbSNP:
complement(2255)-c, adbSNP:11739508
complement(2257)-t, cdbSNP:201587714
complement(2264)-g, adbSNP:200618231
complement(2284)-t, gdbSNP:373980624
complement(2288)-g, adbSNP:35976098
complement(2307)-t, cdbSNP:374928061
complement(2308)-t, adbSNP:145162631
complement(2311)-t, cdbSNP:372024459
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(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(2600)-g, adbSNP:144240072
complement(2610)-g, adbSNP:200664741
complement(2622)-t, cdbSNP:372847987
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
2752+g, tdbSNP:1135084
complement(2761)-dbSNP:
complement(2761)-g, adbSNP:146624866
complement(2789)-g, adbSNP:144420604
complement(2828)-g, adbSNP:375205110
complement(2837)-t, gdbSNP:139344924
complement(2906)-g, adbSNP:143527588
complement(2943)-t, cdbSNP:200985176
complement(2945)-t, gdbSNP:201179527
complement(3020)-dbSNP:
complement(3020)-t, adbSNP:199910628
complement(3056)-g, adbSNP:62001052
complement(3073)-dbSNP:
complement(3073)-g, adbSNP:369459422
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(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(3490)-c, adbSNP:375163910
complement(3502)-t, cdbSNP:112214336
complement(3505)-t, cdbSNP:182487478
complement(3568)-t, adbSNP:11552314
complement(3643)-g, adbSNP:190285646
complement(3644)-g, cdbSNP:369987939
complement(3652)-g, adbSNP:6864605
complement(3840)-t, cdbSNP:115124715
complement(3865)-g, cdbSNP:187770688
3873+g, tdbSNP: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_003664 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, 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
NM_003664 Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), transcript variant 1, 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 MR, Wineinger NE, Rice TK, Pajewski NM, Kabagambe EK, Gu CC, Pankow J, North KE, Wilk JB, Freedman BI, Franceschini N, Broeckel U, Tiwari HK and Arnett DK.
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 SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC 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 PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
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 JB, Uzan-Gafsou S, Ohno H, Geerts WJ, Verkleij AJ, Salamero J, Marks MS 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 AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB and Swank RT.
Journal Hum. Mol. Genet. 8 (2), 323-330 (1999)
Title Beta3A-adaptin, a subunit of the adaptor-like complex AP-3 .
Author Dell'Angelica EC, Ooi CE and Bonifacino JS.
Journal J. Biol. Chem. 272 (24), 15078-15084 (1997)
Title Characterization of the adaptor-related protein complex, AP-3 .
Author Simpson F, Peden AA, Christopoulou L and Robinson MS.
Journal J. Cell Biol. 137 (4), 835-845 (1997)
Title Genetic analysis of human p34CDC2 function in fission yeast .
Author MacNeill SA and Nurse P.
Journal Mol. Gen. Genet. 240 (3), 315-322 (1993)
Title Hermansky-Pudlak Syndrome .
Author Gahl,W.A. and Huizing,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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