1. Gene
  2. BRD1 - bromodomain containing 1 Gene

BRD1 - bromodomain containing 1 Gene

中文名称:含溴结构域 1

种属: Homo sapiens

同用名: BRL; BRPF1; BRPF2

基因 ID: 23774 | 基因类型: protein coding

关于 BRD1

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:49,773,278-49,827,873 (from NCBI)

This gene has 8 transcripts (splice variants), 277 orthologues and 8 paralogues. Broad expression in testis (RPKM 11.6), bone marrow (RPKM 4.4) and 25 other tissues.

功能概要

该基因编码一种含溴结构域的蛋白质,该蛋白质定位于细胞核并可与 DNA 和组蛋白尾部相互作用。编码的蛋白质是 MOZ/MORF 乙酰转移酶复合物的组成部分,可以刺激组蛋白 H3 和 H4 的乙酰化,从而可能在基因激活中发挥作用。在某些研究人群中,该基因的变异与精神分裂症和双相情感障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供,2017 年 3 月]

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

BRD1 基因产物(10)

mRNA Protein Name
NM_001304808.3 NP_001291737.1 bromodomain-containing protein 1 isoform 1
NM_001304809.1 NP_001291738.1 bromodomain-containing protein 1 isoform 2
NM_001349940.2 NP_001336869.1 bromodomain-containing protein 1 isoform 3
NM_001349941.2 NP_001336870.1 bromodomain-containing protein 1 isoform 4
NM_001349942.2 NP_001336871.1 bromodomain-containing protein 1 isoform 5
NM_001394548.1 NP_001381477.1 bromodomain-containing protein 1 isoform 6
NM_001394549.1 NP_001381478.1 bromodomain-containing protein 1 isoform 7
NM_001394550.1 NP_001381479.1 bromodomain-containing protein 1 isoform 8
NM_001394551.1 NP_001381480.1 bromodomain-containing protein 1 isoform 2
NM_001394552.1 NP_001381481.1 bromodomain-containing protein 1 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to histone H3K14 acetyltransferase activity IDA
IDA: 通过直接分析推断
16387653 GOA
contributes to histone H4K12 acetyltransferase activity IDA
IDA: 通过直接分析推断
16387653 GOA
contributes to histone H4K5 acetyltransferase activity IDA
IDA: 通过直接分析推断
16387653 GOA
contributes to histone H4K8 acetyltransferase activity IDA
IDA: 通过直接分析推断
16387653 GOA
enables histone binding IDA
IDA: 通过直接分析推断
21880731 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27142060 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MOZ/MORF histone acetyltransferase complex IDA
IDA: 通过直接分析推断
16387653 GOA
part of histone H3-K14 acetyltransferase complex IDA
IDA: 通过直接分析推断
21753189 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10602503 GOA
located in nucleus IMP
IMP: 通过突变表型推断
21753189 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

BRD1 蛋白结构

EPL1

EPL1: Enhancer of polycomb-like (47 - 196)

PHD_2

PHD_2: PHD-finger (229 - 261)

zf-HC5HC2H_2

zf-HC5HC2H_2: PHD-zinc-finger like domain (270 - 388)

Bromodomain

Bromodomain: Bromodomain (572 - 652)

PWWP

PWWP: PWWP domain (928 - 1036)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1058 a.a.
蛋白主名 其他名称

bromodomain-containing protein 1

BR140-like protein

关联疾病

疾病名称 别名
Herpes Zoster Oticus

Nervus Intermedius Neuralgia

Ramsay Hunt Syndrome Type 2

Geniculate Herpes Zoster

Geniculate Neuralgia

Herpes Zoster Auricularis

Herpetic Geniculate Ganglionitis

Ramsay Hunt Syndrome Type Ii

Ramsey Hunt Syndrome

Facial Nerve Palsy Due To Vzv

Facial Nerve Palsy Due To Herpes Zoster Infection

Facial Nerve Paralysis Due To Vzv

Hunt Syndrome

Hunt'S Syndrome

Ramsay Hunt Syndrome

Myoclonus And Ataxia

Nodular Prostate
Spinocerebellar Ataxia, X-Linked 5

SCAX5

X-Linked Spinocerebellar Ataxia 5

X-Linked Non Progressive Cerebellar Ataxia

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Adult Brain Stem Glioma

Adult Brainstem Neuroglial Tumor

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

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

Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma

Nmc

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
Bos taurus BRD1 VGNC VGNC:26556
Canis familiaris BRD1 VGNC VGNC:38518
Macaca mulatta BRD1 VGNC VGNC:70280
Mus musculus BRD1 MGD MGI:1924161
Rattus norvegicus BRD1 RGD RGD:1311855