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


RefSeq Accession Definition Services Price Order
NM_032122 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. ORF Sequence $306.24
Peptide Services
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RefSeq Version NM_032122.4, 301898110
Length 1429 bp
Structure linear
Update Date 17-APR-2013
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)280..282
Misc Feature(4)280..282
Misc Feature(5)286..288
Misc Feature(6)292..294
Misc Feature(7)706..1182
Misc Feature(8)715..1128
Misc Feature(9)916..957
Misc Feature(10)1135..1137
Misc Feature(11)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(172)-g, adbSNP:11558324
complement(201)-g, adbSNP:150529889
complement(215)-c, adbSNP:142191509
complement(277)-dbSNP:
complement(277)-g, adbSNP:79358774
complement(351)-dbSNP:
complement(351)-g, c, adbSNP:77460377
complement(391)-t, cdbSNP:143011785
complement(423)-dbSNP:
complement(423)-g, adbSNP:190232960
complement(444)-t, cdbSNP:200096549
complement(465)-t, cdbSNP:148092520
complement(472)-t, cdbSNP:144660230
complement(496)-t, cdbSNP:104893945
complement(557)-dbSNP:
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(666)-t, cdbSNP:138834954
complement(676)-t, gdbSNP:146546977
complement(710)-dbSNP:
complement(710)-t, adbSNP:200731587
complement(721)-g, adbSNP:75704383
complement(735)-g, cdbSNP:142211938
complement(744)-t, cdbSNP:138074958
complement(830)-t, cdbSNP:16876589
complement(842)-g, adbSNP:147011671
complement(851)-g, adbSNP:76349207
complement(862)-dbSNP:
complement(862)-t, cdbSNP:187849385
complement(877)-g, adbSNP:142075419
complement(891)-t, cdbSNP:78181071
complement(927)-t, cdbSNP:144968986
complement(949)-t, cdbSNP:201398047
complement(952)-g, adbSNP:144019618
complement(957)-c, adbSNP:140131174
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(1103)-g, adbSNP:79262298
complement(1104)-t, cdbSNP:140716378
complement(1111)-g, adbSNP:185009228
complement(1135)-g, adbSNP:200026751
complement(1147)-c, adbSNP:78975928
complement(1174)-c, adbSNP:201020144
complement(1247)-g, adbSNP:201409652
complement(1260)-t, cdbSNP:200627044
complement(1298)-g, adbSNP:181454091
complement(1299)-t, cdbSNP:138406667
complement(1307)-c, adbSNP:1047620
complement(1350)-g, adbSNP:1047631
complement(1407)-g, adbSNP:189118471
complement(1411)-t, cdbSNP:145920818
Gene SymbolDTNBP1
Gene SynonymBLOC1S8; DBND; HPS7; My031; SDY
Chromosome6
Locus Map6p22.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001271667 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 3, mRNA. Full Length $426.01
ORF Sequence $235.77
NM_001271668 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 5, mRNA. Full Length $398.17
ORF Sequence $291.45
NM_001271669 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 6, mRNA. Full Length $382.51
ORF Sequence $275.79
NM_032122 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. Full Length $414.41
ORF Sequence $306.24
NM_183040 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 2, mRNA. Full Length $569.27
ORF Sequence $264.48
Title Association of genetic variations in DTNBP1 with cognitive function in schizophrenia patients and healthy subjects .
Author Baek,J.H., Kim,J.S., Ryu,S., Oh,S., Noh,J., Lee,W.K., Park,T., Lee,Y.S., Lee,D., Kwon,J.S. and Hong,K.S.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (7), 841-849 (2012)
Title Upregulation of dysbindin in temporal lobe epileptic foci of human and experimental animals .
Author Zhang,Y., Xu,Y., Zhu,Q., Zhao,F., Luo,J., Zhang,X. and Wang,X.
Journal Synapse 66 (7), 622-629 (2012)
Title DTNBP1 (dysbindin) gene variants: in vivo evidence for effects on hippocampal glutamate status .
Author Wirth,C., Schubert,F., Lautenschlager,M., Bruhl,R., Klar,A., Majic,T., Lang,U.E., Ehrlich,A., Winterer,G., Sander,T., Schouler-Ocak,M. and Gallinat,J.
Journal Curr Pharm Biotechnol 13 (8), 1513-1521 (2012)
Title The impact of a Dysbindin schizophrenia susceptibility variant on fiber tract integrity in healthy individuals: a TBSS-based diffusion tensor imaging study .
Author Nickl-Jockschat,T., Stocker,T., Markov,V., Krug,A., Huang,R., Schneider,F., Habel,U., Zerres,K., Nothen,M.M., Treutlein,J., Rietschel,M., Shah,N.J. and Kircher,T.
Journal Neuroimage 60 (2), 847-853 (2012)
Title Effects of DTNBP1 genotype on brain development in children .
Author Tognin,S., Viding,E., McCrory,E.J., Taylor,L., O'Donovan,M.C., McGuire,P. and Mechelli,A.
Journal J Child Psychol Psychiatry 52 (12), 1287-1294 (2011)
Title Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles .
Author Moriyama,K. and Bonifacino,J.S.
Journal Traffic 3 (9), 666-677 (2002)
Title Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia .
Author Straub,R.E., Jiang,Y., MacLean,C.J., Ma,Y., Webb,B.T., Myakishev,M.V., Harris-Kerr,C., Wormley,B., Sadek,H., Kadambi,B., Cesare,A.J., Gibberman,A., Wang,X., O'Neill,F.A., Walsh,D. and Kendler,K.S.
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,M.A., Newey,S.E., Martin-Rendon,E., Hawkes,R. and Blake,D.J.
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,T.H. and Hirschberg,K.
Journal Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000)

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