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Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24982 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu24982C Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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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_032122.4, 301898110
Length 1056 bp
Structure linear
Update Date 17-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.
Product dysbindin isoform a
Comment

Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (a). This protein isoform is described by Talbot et al. (PMID:21390302).

RefSeq NP_115498.2
CDS 190..1245
Misc Feature(1)76..78
Misc Feature(2)76..78
Misc Feature(3)706..1182
Misc Feature(4)706..1182
Misc Feature(5)715..1188
Misc Feature(6)916..957
Misc Feature(7)1135..1137
Misc Feature(8)1150..1152
Exon (1)1..245
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (2)246..299
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (3)300..350
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (4)351..411
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (5)412..544
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (6)545..677
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (7)678..700
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (8)701..856
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (9)857..1000
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Exon (10)1001..1419
Gene:DTNBP1
Gene Synonym:BLOC1S8; DBND; HPS7; My031; SDY
Translation MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWA ALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTH LEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQK VLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQ MDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS
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Position Chain Variation Link
complement(144)-g, adbSNP:376061896
complement(172)-g, adbSNP:11558324
complement(201)-g, adbSNP:150529889
complement(245)-t, cdbSNP:368994656
complement(257)-dbSNP:
complement(257)-g, adbSNP:372560190
277+a, gdbSNP:79358774
complement(297)-g, cdbSNP:368338449
complement(351)-dbSNP:
complement(351)-g, c, adbSNP:77460377
complement(391)-t, cdbSNP:143011785
complement(407)-c, adbSNP:370162147
complement(415)-dbSNP:
complement(415)-t, cdbSNP:373060790
complement(423)-g, adbSNP:190232960
complement(444)-t, cdbSNP:200096549
complement(465)-t, cdbSNP:148092520
complement(472)-t, cdbSNP:144660230
complement(482)-t, cdbSNP:373182049
496+c, tdbSNP:104893945
complement(513)-g, adbSNP:367543105
complement(548)-dbSNP:
complement(548)-t, cdbSNP:376554858
complement(557)-g, adbSNP:186317880
complement(558)-t, cdbSNP:201030900
complement(585)-g, cdbSNP:200644873
complement(604)-g, adbSNP:149346386
complement(622)-c, adbSNP:111275594
complement(627)-t, cdbSNP:369015562
complement(636)-g, adbSNP:371936098
complement(676)-t, gdbSNP:146546977
complement(710)-dbSNP:
complement(710)-t, adbSNP:200731587
721+a, gdbSNP:75704383
complement(735)-g, cdbSNP:142211938
complement(744)-t, cdbSNP:138074958
830+c, tdbSNP:16876589
complement(842)-g, adbSNP:147011671
complement(843)-c, adbSNP:367543104
complement(851)-g, adbSNP:76349207
complement(853)-g, adbSNP:367702294
complement(862)-dbSNP:
complement(862)-t, cdbSNP:187849385
complement(877)-g, adbSNP:142075419
complement(891)-t, cdbSNP:78181071
complement(892)-t, cdbSNP:376313138
complement(898)-t, cdbSNP:372800513
complement(927)-t, cdbSNP:144968986
complement(949)-t, cdbSNP:201398047
complement(952)-g, adbSNP:144019618
complement(957)-c, adbSNP:140131174
complement(966)-t, cdbSNP:368455603
complement(993)-t, gdbSNP:374947359
complement(1003)-dbSNP:
complement(1003)-g, adbSNP:17470454
complement(1063)-t, cdbSNP:73369534
complement(1071)-t, cdbSNP:200370900
complement(1075)-t, cdbSNP:74907982
complement(1089)-g, adbSNP:200928711
complement(1091)-g, cdbSNP:202208103
complement(1101)-g, adbSNP:369336375
complement(1103)-g, adbSNP:79262298
complement(1104)-t, cdbSNP:140716378
complement(1110)-g, cdbSNP:375607347
complement(1111)-g, adbSNP:185009228
complement(1112)-t, cdbSNP:374085686
complement(1135)-g, adbSNP:200026751
complement(1139)-g, cdbSNP:367543103
1147+a, cdbSNP:78975928
complement(1151)-g, cdbSNP:377223155
complement(1152)-g, adbSNP:371824272
complement(1153)-t, cdbSNP:368759511
complement(1174)-c, adbSNP:201020144
complement(1178)-g, adbSNP:377706593
complement(1208)-t, cdbSNP:367543102
complement(1209)-g, cdbSNP:367543101
complement(1217)-g, adbSNP:376670611
complement(1218)-t, cdbSNP:371606630
complement(1227)-g, adbSNP:368140032
complement(1237)-t, cdbSNP:375282879
complement(1247)-g, adbSNP:201409652
complement(1260)-t, cdbSNP:200627044
complement(1263)-t, cdbSNP:368414514
complement(1298)-g, adbSNP:181454091
1299+c, tdbSNP:138406667
1307+a, cdbSNP:1047620
1350+a, gdbSNP:1047631
complement(1350)-g, adbSNP:386513180
complement(1407)-g, adbSNP:189118471
complement(1411)-t, cdbSNP:145920818
Gene SymbolDTNBP1
Gene SynonymBLOC1S8; DBND; HPS7; My031; SDY
Chromosome6
Locus Map6p22.3
Title Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life .
Author Lowe GC, Sanchez Guiu I, Chapman O, Rivera J, Lordkipanidze M, Dovlatova N, Wilde J, Watson SP and Morgan NV.
Journal Thromb. Haemost. 109 (4), 766-768 (2013)
Title The DTNBP1 (dysbindin-1) gene variant rs2619522 is associated with variation of hippocampal and prefrontal grey matter volumes in humans .
Author Trost S, Platz B, Usher J, Scherk H, Wobrock T, Ekawardhani S, Meyer J, Reith W, Falkai P and Gruber O.
Journal Eur Arch Psychiatry Clin Neurosci 263 (1), 53-63 (2013)
Title [SNAP-25 and DTNBP1 as candidate genes for cognitive reserve in schizophrenia] .
Author Afimova,M.V., Golimbet,V.E., Monakhov,M.V., Abramova,L.I., Aksenova,E.V., Kaleda,V.G. and Velikaia,N.V.
Journal Zh Nevrol Psikhiatr Im S S Korsakova 113 (3), 54-60 (2013)
Title Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes .
Author Sacchetti E, Scassellati C, Minelli A, Valsecchi P, Bonvicini C, Pasqualetti P, Galluzzo A, Pioli R and Gennarelli M.
Journal BMC Med. Genet. 14, 33 (2013)
Title Association of genetic variations in DTNBP1 with cognitive function in schizophrenia patients and healthy subjects .
Author Baek JH, Kim JS, Ryu S, Oh S, Noh J, Lee WK, Park T, Lee YS, Lee D, Kwon JS and Hong KS.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (7), 841-849 (2012)
Title Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia .
Author Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV, Harris-Kerr C, Wormley B, Sadek H, Kadambi B, Cesare AJ, Gibberman A, Wang X, O'Neill FA, Walsh D and Kendler KS.
Journal Am. J. Hum. Genet. 71 (2), 337-348 (2002)
Title Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain .
Author Benson MA, Newey SE, Martin-Rendon E, Hawkes R and Blake DJ.
Journal J. Biol. Chem. 276 (26), 24232-24241 (2001)
Title Three ways to make a vesicle .
Author Kirchhausen T.
Journal Nat. Rev. Mol. Cell Biol. 1 (3), 187-198 (2000)
Title Secretory protein trafficking and organelle dynamics in living cells .
Author Lippincott-Schwartz J, Roberts TH and Hirschberg K.
Journal Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000)
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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