DTNBP1

GENE INFORMATION

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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 78.38)

Entrez gene

84062

UniProt

Q96EV8 (UniProt - Evidence at protein level)

neXtProt

NX_Q96EV8

Antibodypedia

DTNBP1 antibodies
 

PROTEIN VIEW

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

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DTNBP1-001 ENSP00000341680
ENST00000344537
Q96EV8
Show all »
Show » Show » 351 39.5 No 0
DTNBP1-002 ENSP00000344718
ENST00000338950
Q96EV8
Show all »
Show » Show » 303 34.8 No 0
DTNBP1-003 ENSP00000427239
ENST00000462989
D6RJC6
Show all »
Show » Show » 195 21.4 No 0
DTNBP1-008 ENSP00000427473
ENST00000511762
D6RID1
Show all »
Show » Show » 231 26.8 No 0
DTNBP1-010 ENSP00000421797
ENST00000509674
D6RAR7
Show all »
Show » Show » 142 15.8 No 0
DTNBP1-201 ENSP00000348183
ENST00000355917
D6RAR7
Show all »
Show » Show » 334 37.6 No 0
DTNBP1-202 ENSP00000481997
ENST00000622898
D6RID1
Show all »
Show » Show » 316 35.6 No 0