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DTNBP1

GENERAL INFORMATION

Gene name

 DTNBP1

Gene description

 Dystrobrevin binding protein 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Mainly cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA028053 , HPA029615 , HPA029616
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DTNBP1 (HGNC Symbol)

Synonyms

 BLOC1S8, DBND, Dysbindin, HPS7, My031

Description

 Dystrobrevin binding protein 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 6

Cytoband

 p22.3

Chromosome location (bp)

 15522801 - 15663058

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000047579 (version 83.38)

Entrez gene

 84062

UniProt

 Q96EV8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96EV8

Antibodypedia

 DTNBP1 antibodies

PROTEIN BROWSER
DTNBP1-001
DTNBP1-002
DTNBP1-003
DTNBP1-008
DTNBP1-010
DTNBP1-201
DTNBP1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DTNBP1-001
ENSP00000341680
ENST00000344537
Q96EV8 [Direct mapping]
Dysbindin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001956 [positive regulation of neurotransmitter secretion]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0006996 [organelle organization]
GO:0007596 [blood coagulation]
GO:0008089 [anterograde axon cargo transport]
GO:0010008 [endosome membrane]
GO:0010628 [positive regulation of gene expression]
GO:0014059 [regulation of dopamine secretion]
GO:0014069 [postsynaptic density]
GO:0016528 [sarcoplasm]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0030672 [synaptic vesicle membrane]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0031532 [actin cytoskeleton reorganization]
GO:0032438 [melanosome organization]
GO:0033162 [melanosome membrane]
GO:0042383 [sarcolemma]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043506 [regulation of JUN kinase activity]
GO:0045211 [postsynaptic membrane]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0048812 [neuron projection morphogenesis]
GO:0060155 [platelet dense granule organization]
GO:0060159 [regulation of dopamine receptor signaling pathway]
GO:0061024 [membrane organization]
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 351 aa
39.5 kDa 		No 0
DTNBP1-002
ENSP00000344718
ENST00000338950
Q96EV8 [Direct mapping]
Dysbindin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001956 [positive regulation of neurotransmitter secretion]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008089 [anterograde axon cargo transport]
GO:0010008 [endosome membrane]
GO:0010628 [positive regulation of gene expression]
GO:0014059 [regulation of dopamine secretion]
GO:0014069 [postsynaptic density]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0030672 [synaptic vesicle membrane]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0031532 [actin cytoskeleton reorganization]
GO:0032438 [melanosome organization]
GO:0033162 [melanosome membrane]
GO:0042383 [sarcolemma]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0045211 [postsynaptic membrane]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0048812 [neuron projection morphogenesis]
GO:0060159 [regulation of dopamine receptor signaling pathway]
GO:0061024 [membrane organization]
Show all
 303 aa
34.8 kDa 		No 0
DTNBP1-003
ENSP00000427239
ENST00000462989
D6RJC6 [Direct mapping]
Dysbindin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005737 [cytoplasm]
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 195 aa
21.4 kDa 		No 0
DTNBP1-008
ENSP00000427473
ENST00000511762
D6RID1 [Direct mapping]
Dysbindin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
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 231 aa
26.8 kDa 		No 0
DTNBP1-010
ENSP00000421797
ENST00000509674
D6RAR7 [Direct mapping]
Dysbindin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
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 142 aa
15.8 kDa 		No 0
DTNBP1-201
ENSP00000348183
ENST00000355917
A6NFV8 [Direct mapping]
Dysbindin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001956 [positive regulation of neurotransmitter secretion]
GO:0005737 [cytoplasm]
GO:0010628 [positive regulation of gene expression]
Show all
 334 aa
37.6 kDa 		No 0
DTNBP1-202
ENSP00000481997
ENST00000622898
A0A087WYP9 [Direct mapping]
Dysbindin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
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 316 aa
35.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.