1. Gene
  2. DTNBP1 - dystrobrevin binding protein 1 Gene

DTNBP1 - dystrobrevin binding protein 1 Gene

中文名称:dystrobrevin 结合蛋白 1

种属: Homo sapiens

同用名: SDY; DBND; HPS7; My031; BLOC1S8

基因 ID: 84062 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质可能在与黑素体、血小板致密颗粒和溶酶体相关的细胞器生物发生中发挥作用。小鼠中的一种类似蛋白质是称为溶酶体相关细胞器复合物 1 (BLOC-1) 生物发生的蛋白质复合物的成分,并与 alpha- 和 beta-dystrobrevins 结合,后者是抗肌萎缩蛋白相关蛋白复合物 (DPC) 的成分.该基因的突变与 Hermansky-Pudlak 综合征 7 型有关。该基因也可能与精神分裂症有关。已经为该基因鉴定了编码不同亚型的多个转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15102850 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in neuron projection development IDA
IDA: 通过直接分析推断
16980328 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BLOC-1 complex IDA
IDA: 通过直接分析推断
15102850 GOA
part of BLOC-1 complex IPI
IPI: 通过物理相互作用推断
22203680 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
16980328 GOA
located in postsynaptic density IDA
IDA: 通过直接分析推断
16980328 GOA
located in synaptic vesicle membrane IDA
IDA: 通过直接分析推断
16980328 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DTNBP1 蛋白结构

Dysbindin

Dysbindin: Dysbindin (Dystrobrevin binding protein 1) (175 - 332)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
蛋白主名 其他名称

dysbindin

BLOC-1 subunit 8

DTNBP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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