Tbio DTNBP1 Dysbindin

Protein Summary

Description

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. 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]

Uniprot Accession IDs

• Q96EV8
• A8K3V3
• Q5THY3
• Q5THY4
• Q96NV2
• Q9H0U2
• Q9H3J5

Gene Name

• DTNBP1

Ensembl ID

• ENST00000338950
• ENSP00000344718
• ENSG00000047579
• ENST00000344537
• ENSP00000341680

Symbol

• BLOC1S8
• SDY
• DBND
• HPS7
• My031
• BLOC1S8

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.98
kinase perturbation	0.97
cellular component	0.91
histone modification site profile	0.85
biological term	0.84

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

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ARCHS4

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 331.7   (req: < 5)

Gene RIFs: 127   (req: <= 3)

Antibodies: 404   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 331.7   (req: >= 5)

Gene RIFs: 127   (req: > 3)

Antibodies: 404   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (2)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
squamous cell carcinoma	EFO_0000707	1	1	0	1.1	29.4
interleukin 10 measurement	EFO_0004750	1	1	1		1.5

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
squamous cell carcinoma	EFO_0000707	0	1.1	29.4
interleukin 10 measurement	EFO_0004750	1		1.5

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Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	dystrobrevin binding protein 1		709358
Mouse	dystrobrevin binding protein 1	MGI:2137586	94245
Dog	dystrobrevin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:17328]
Horse	dystrobrevin binding protein 1	VGNC:17334	100065604
Cow	dystrobrevin binding protein 1	VGNC:28233	506612

Species	Name	OMA	EggNOG	Inparanoid
Macaque	dystrobrevin binding protein 1
Mouse	dystrobrevin binding protein 1
Dog	dystrobrevin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:17328]
Horse	dystrobrevin binding protein 1
Cow	dystrobrevin binding protein 1

Protein Structure (0 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

AF-Q96EV8-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (4)

Reactome (4)

Golgi Associated Vesicle Biogenesis (R-HSA-432722)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Reactome	Membrane Trafficking	612 targets	R-HSA-199991
Reactome	Vesicle-mediated transport	725 targets	R-HSA-5653656
Reactome	trans-Golgi Network Vesicle Budding	72 targets	R-HSA-199992

Name	Explore in Pharos	Explore in Source
Golgi Associated Vesicle Biogenesis	56 targets	R-HSA-432722
Membrane Trafficking	612 targets	R-HSA-199991
Vesicle-mediated transport	725 targets	R-HSA-5653656
trans-Golgi Network Vesicle Budding	72 targets	R-HSA-199992

Gene Ontology Terms (40)

Components (23)

Processes (17)

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GO Term	Evidence	Assigned by
BLOC-1 complex	Inferred from Direct Assay (IDA)	UniProtKB
microtubule cytoskeleton	Inferred from Direct Assay (IDA)	HPA
midbody	Inferred from Direct Assay (IDA)	HPA
neuron projection	Inferred from Direct Assay (IDA)	UniProtKB
postsynaptic density	Inferred from Direct Assay (IDA)	UniProtKB
synaptic vesicle membrane	Inferred from Direct Assay (IDA)	UniProtKB
axon	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
cytoplasm	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
dendritic spine	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
endoplasmic reticulum membrane	Inferred from Sequence or structural Similarity (ISS)	UniProtKB

Protein-Protein Interactions (211)

Explore Interacting Targets

1 – 10 of 211

• See Interactions on String-DB

BCAS4

Tbio

Novelty: 0.11759439

p_int: 1

Score: 0.886

Data Source: BioPlex,STRINGDB

BORCS6

Tdark

Novelty: 0.83789033

p_int: 1

Score: 0.3

Data Source: BioPlex,STRINGDB

BLOC1S3

Tbio

Novelty: 0.08465735

p_int: 0.999999997

p_ni: 2e-9

p_wrong: 1e-9

Score: 0.993

Data Source: BioPlex,STRINGDB

BLOC1S2

Tbio

Novelty: 0.02346362

p_int: 0.999999992

p_ni: 8e-9

Score: 0.997

Data Source: BioPlex,STRINGDB

TXLNB

Tbio

Novelty: 0.12751933

p_int: 0.999999971

p_ni: 2.9e-8

Score: 0.536

Data Source: BioPlex,STRINGDB

BORCS8

Tdark

Novelty: 1.62939642

p_int: 0.99999995

p_ni: 3.8e-8

p_wrong: 1.2e-8

Score: 0.666

Data Source: BioPlex,STRINGDB

BLOC1S1

Tbio

Novelty: 0.02921036

p_int: 0.9999999

p_ni: 1e-7

Score: 0.995

Data Source: BioPlex,STRINGDB

BLOC1S5

Tbio

Novelty: 0.17565466

p_int: 0.999999843

p_ni: 4e-9

p_wrong: 1.52e-7

Score: 0.994

Data Source: BioPlex,STRINGDB

TRIM69

Tbio

Family: Enzyme

Novelty: 0.18807436

p_int: 0.999999837

p_ni: 1.63e-7

Score: 0.476

Data Source: BioPlex,STRINGDB

COG6

Tbio

Novelty: 0.02874093

p_int: 0.999999799

p_ni: 2.01e-7

Score: 0.414

Data Source: BioPlex,STRINGDB

Publication Statistics

PubMed Score  331.70

PubMed score by year

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PubTator Score  204.93

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

Albinism
Alternative initiation
Alternative splicing
Cell junction
Cell membrane
Coiled coil
Complete proteome
Cytoplasm
Cytoplasmic vesicle
Endoplasmic reticulum

GWAS Trait Find Similar Targets

interleukin 10 measurement
squamous cell carcinoma

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype
nervous system phenotype
pigmentation phenotype
renal/urinary system phenotype
vision/eye phenotype