DTNBP1 - dystrobrevin binding protein 1 Gene

Also Known as SDY; DBND; HPS7; My031; BLOC1S8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84062

About DTNBP1

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:15,522,807-15,663,058 (from NCBI)

This gene has 12 transcripts (splice variants), 275 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 6.2), spleen (RPKM 4.0) and 25 other tissues.

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]

DTNBP1 Products (5)

mRNA	Protein	Name
NM_001271667.2	NP_001258596.1	dysbindin isoform C
NM_001271668.2	NP_001258597.1	dysbindin isoform d
NM_001271669.2	NP_001258598.1	dysbindin isoform e
NM_032122.5	NP_115498.2	dysbindin isoform a
NM_183040.2	NP_898861.1	dysbindin isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15102850	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in neuron projection development	IDA IDA: Inferred from direct assay	16980328	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	15102850	GOA
part of BLOC-1 complex	IPI IPI: Inferred from physical interaction	22203680	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	16980328	GOA
located in postsynaptic density	IDA IDA: Inferred from direct assay	16980328	GOA
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	16980328	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DTNBP1 Protein Structure

Dysbindin

0
100
200
300
351 a.a.

Protein Preferred Names	Protein Names
dysbindin	BLOC-1 subunit 8

DTNBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DTNBP1	Q96EV8	SSC5D	Homo sapiens	A1L4H1	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	SSC5D	Homo sapiens	A1L4H1	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	CCHCR1	Homo sapiens	Q8TD31-3	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	CCHCR1	Homo sapiens	Q8TD31-3	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	P4HA3	Homo sapiens	Q7Z4N8	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	CCDC146	Homo sapiens	Q8IYE0-2	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	ELOVL7	Homo sapiens	A1L3X0	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	ELOVL7	Homo sapiens	A1L3X0	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	SHFL	Homo sapiens	Q9NUL5	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	KIFC3	Homo sapiens	Q9BVG8	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	HAUS1	Homo sapiens	Q96CS2	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	BRK1	Homo sapiens	Q8WUW1	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	BRK1	Homo sapiens	Q8WUW1	Anti Tag CoIP	33961781
Intra	DTNBP1	Q96EV8	BRK1	Homo sapiens	Q8WUW1	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	SNAPIN	Homo sapiens	O95295	Anti Bait CoIP	15102850
Intra	DTNBP1	Q96EV8	SNAPIN	Homo sapiens	O95295	Anti Tag CoIP	33961781
Intra	DTNBP1	Q96EV8	SNAPIN	Homo sapiens	O95295	Y2H	15102850
Intra	DTNBP1	Q96EV8	SNAPIN	Homo sapiens	O95295	Y2H Fragment Pooling	23414517
Intra	DTNBP1	Q96EV8	SNAPIN	Homo sapiens	O95295	Pull Down	22203680
Intra	DTNBP1	Q96EV8	BLOC1S6	Homo sapiens	Q9UL45	Validated Y2H	32296183
Intra	DTNBP1	Q96EV8	BLOC1S6	Homo sapiens	Q9UL45	Pull Down	22203680
Intra	DTNBP1	Q96EV8	BLOC1S6	Homo sapiens	Q9UL45	Anti Bait CoIP	15102850
Intra	DTNBP1	Q96EV8	BLOC1S5	Homo sapiens	Q8TDH9	Pull Down	22203680
Intra	DTNBP1	Q96EV8	BLOC1S5	Homo sapiens	Q8TDH9	Anti Bait CoIP	15102850
Intra	DTNBP1	Q96EV8	BLOC1S5	Homo sapiens	Q8TDH9	Anti Tag CoIP	33961781
Intra	DTNBP1	Q96EV8	TXLNB	Homo sapiens	Q8N3L3	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	TXLNB	Homo sapiens	Q8N3L3	Anti Tag CoIP	25416956
Intra	DTNBP1	Q96EV8	TXLNB	Homo sapiens	Q8N3L3	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	WASHC3	Homo sapiens	Q9Y3C0	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	KANSL1	Homo sapiens	Q7Z3B3	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	KANSL1	Homo sapiens	Q7Z3B3	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	KANSL1	Homo sapiens	Q7Z3B3	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	DTNB	Homo sapiens	O60941	Validated Y2H	25416956
Intra	DTNBP1	Q96EV8	DTNB	Homo sapiens	O60941	Y2H Array	25416956
Intra	DTNBP1	Q96EV8	IFT20	Homo sapiens	Q8IY31	Y2H Prey Pooling	25416956
Intra	DTNBP1	Q96EV8	SYBU	Homo sapiens	Q9NX95	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

DTNBP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811225	Dysbindin 1 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hermansky-Pudlak Syndrome 7	HPS7 Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 7 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermansky-Pudlak Syndrome 1	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells HPS1 Delta Storage Pool Disease Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Hermansky-Pudlak Syndrome, Type 1 Platelet Storage Pool Deficiency
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Hermansky-Pudlak Syndrome Due To Bloc-1 Deficiency
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Schizoaffective Disorder	Schizo-Affective Psychosis Schizo-Affective Type Schizophrenia Schizoaffective Psychosis Schizoaffective Schizophrenia Schizophrenia, Schizo-Affective Type Schizophreniform Psychosis, Affective Type
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Substance-Induced Psychosis
Tardive Dyskinesia	Drug-Induced Tardive Dyskinesia Lingual-Facial-Buccal Dyskinesia Neuroleptic-Induced Tardive Dyskinesia
Schizophreniform Disorder	Schizophreniform Disorders Psychotic Disorders
Schizotypal Personality Disorder	Schizotypal Personality
Storage Pool Platelet Disease	Platelet Storage Pool Deficiency Storage Pool Disease Of Platelets Dense Body Defect Platelet Dense Granule Deficiency Platelet Storage Pool Defect Platelet Storage Pool Diseases Alpha Delta Granule Deficiency Alpha Dense Granule Deficiency Combined Alpha-Delta Platelet Storage Pool Deficiency
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h	Lgmd2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Muscular Dystrophy Hutterite Type Sarcotubular Myopathy Limb-Girdle Muscular Dystrophy Type 2h
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Schizophrenia 3	SCZD3 Schizophrenia Susceptibility Locus, Chromosome 6-Related Schizophrenia 3 With Or Without An Affective Disorder
Schizoid Personality Disorder
Bipolar I Disorder	Manic Depression Nos Manic-Depressive Illness Bipolar Disorder Nos
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Paranoid Schizophrenia	Chronic Paranoid Schizophrenia Paranoid Type Schizophrenia Paranoid Type Schizophrenia Subchronic State Paraphrenia - Late Paraphrenic Schizophrenia Schizophrenia, Paranoid
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04037	DTNBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DTNBP1	VGNC	VGNC:58301
Mus musculus	DTNBP1	MGD	MGI:2137586
Macaca mulatta	DTNBP1	VGNC	VGNC:71853
Felis catus	DTNBP1	VGNC	VGNC:61645
Bos taurus	DTNBP1	VGNC	VGNC:28233
Rattus norvegicus	DTNBP1	RGD	RGD:1590759
Others	DTNBP1	NCBI