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DTNBP1 dystrobrevin binding protein 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001271667 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10
NM_001271668 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001271669 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_032122 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_183040 Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_005249447 PREDICTED: Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006715226 PREDICTED: Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_006715227 PREDICTED: Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol DTNBP1
Entrez Gene ID 84062
Full Name dystrobrevin binding protein 1
Synonyms BLOC1S8, DBND, HPS7, My031, SDY
General protein information
Preferred Names
dysbindin
Names
dysbindin
dysbindin-1
BLOC-1 subunit 8
Hermansky-Pudlak syndrome 7 protein
biogenesis of lysosomal organelles complex-1, subunit 8
biogenesis of lysosome-related organelles complex 1 subunit 8
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p22.3

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].
Disorder

MIM: 607145

{Schizophrenia}, 181500 (2); Hermansky-Pudlak syndrome 7, 203300 (3)

mRNA Protein Product Sequence Price Select
NM_001271667, 410651503 NP_001258596, 410651504 dysbindin isoform C ORF Sequence $199.00
NM_001271668, 410651505 NP_001258597, 410651506 dysbindin isoform d ORF Sequence $400.00
NM_001271669, 410651507 NP_001258598, 410651508 dysbindin isoform e ORF Sequence $400.00
NM_032122, 301898110 NP_115498, 19549327 dysbindin isoform a ORF Sequence $269.00
NM_183040, 301898112 NP_898861, 34304368 dysbindin isoform b ORF Sequence $300.00
XM_005249447, 578812002 XP_005249504, 530382706 dysbindin isoform X1 ORF Sequence $400.00
XM_006715226, 578812003 XP_006715289, 578812004 dysbindin isoform X2 ORF Sequence $250.00
XM_006715227, 578812005 XP_006715290, 578812006 dysbindin isoform X3 ORF Sequence $250.00
Reactome
REACT_19187Clathrin derived vesicle budding
REACT_19400Golgi Associated Vesicle Biogenesis
REACT_11123Membrane Trafficking
REACT_11235trans-Golgi Network Vesicle Budding
Homo sapiens (human)DTNBP1NP_115498.2
Pan troglodytes (chimpanzee)DTNBP1XP_001169961.3
Macaca mulatta (Rhesus monkey)LOC709358XP_002808417.1
Canis lupus familiaris (dog)DTNBP1XP_005640114.1
Bos taurus (cattle)DTNBP1NP_001039412.1
Mus musculus (house mouse)Dtnbp1NP_080048.2
Rattus norvegicus (Norway rat)Dtnbp1NP_001032753.1
Gallus gallus (chicken)DTNBP1NP_001006372.1
Danio rerio (zebrafish)dtnbp1aNP_957428.1
Xenopus (Silurana) tropicalis (western clawed frog)dtnbp1NP_001135568.1
Process
IDNameEvidence
GO:0001956positive regulation of neurotransmitter secretionISS
GO:0006892post-Golgi vesicle-mediated transportTAS
GO:0007596blood coagulationIEA
GO:0008089anterograde axon cargo transportISS
GO:0010628positive regulation of gene expressionISS
GO:0014059regulation of dopamine secretionISS
GO:0031175neuron projection developmentIDA
GO:0031532actin cytoskeleton reorganizationISS
GO:0032438melanosome organizationNAS
GO:0048490anterograde synaptic vesicle transportISS
GO:0048812neuron projection morphogenesisISS
GO:0060155platelet dense granule organizationIEA
GO:0060159regulation of dopamine receptor signaling pathwayISS
GO:0061024membrane organizationTAS
Component
IDNameEvidence
GO:0005634nucleusISS
GO:0005737cytoplasmISS
GO:0005789endoplasmic reticulum membraneISS
GO:0005829cytosolTAS
GO:0010008endosome membraneIEA
GO:0014069postsynaptic densityIDA
GO:0016528sarcoplasmIEA
GO:0030054cell junctionIEA
GO:0030424axonISS
GO:0030426growth coneISS
GO:0030672synaptic vesicle membraneIDA
GO:0030672synaptic vesicle membraneISS
GO:0031083BLOC-1 complexIDA
GO:0033162melanosome membraneIEA
GO:0042383sarcolemmaISS
GO:0043005neuron projectionIDA
GO:0043197dendritic spineISS
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards DTNBP1
UniProt Q96EV8
Vega OTTHUMG00000014295
MIM 607145
Ensembl ENSG00000047579
HGNC 17328
HPRD 06190

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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