1. Gene
  2. BRWD1 - bromodomain and WD repeat domain containing 1 Gene

BRWD1 - bromodomain and WD repeat domain containing 1 Gene

中文名称:含溴域和 WD 重复域 1

种属: Homo sapiens

同用名: N143; WDR9; WRD9; DCAF19; C21orf107

基因 ID: 54014 | 基因类型: protein coding

关于 BRWD1

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:39,184,176-39,321,212 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 4.9) and 25 other tissues.

功能概要

该基因编码 WD 重复蛋白家族的一个成员。 WD 重复是大约 40 个氨基酸的最小保守区域,通常由 gly-his 和 trp-asp (GH-WD) 残基括起来,这可能促进异三聚体或多蛋白复合物的形成。该家族的成员参与多种细胞过程,包括细胞周期进程、信号转导、细胞凋亡和基因调控。该蛋白质包含 2 个溴结构域和多个 WD 重复序列。该基因位于 21 号染色体上的唐氏综合症区域 2 内。该基因的选择性剪接会产生编码不同亚型的多个转录变体。在小鼠中,该基因编码一种核蛋白,该蛋白具有一个含有聚谷氨酰胺的区域,该区域充当转录激活域,可调节染色质重塑并与 SWI/SNF 染色质重塑复合物的一个成分相关。[RefSeq 提供,2011 年 6 月]

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 Amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

BRWD1 基因产物(3)

mRNA Protein Name
NM_001007246.3 NP_001007247.1 bromodomain and WD repeat-containing protein 1 isoform C
NM_018963.5 NP_061836.2 bromodomain and WD repeat-containing protein 1 isoform A
NM_033656.4 NP_387505.1 bromodomain and WD repeat-containing protein 1 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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
21834987 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
21834987 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IMP
IMP: 通过突变表型推断
33389130 GOA
located in motile cilium IMP
IMP: 通过突变表型推断
33389130 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25593309 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

BRWD1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (182 - 214)

WD40

WD40: WD domain, G-beta repeat (219 - 255)

WD40

WD40: WD domain, G-beta repeat (262 - 301)

WD40

WD40: WD domain, G-beta repeat (360 - 395)

WD40

WD40: WD domain, G-beta repeat (459 - 497)

Bromodomain

Bromodomain: Bromodomain (1166 - 1252)

Bromodomain

Bromodomain: Bromodomain (1322 - 1402)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2320 a.a.
蛋白主名 其他名称

bromodomain and WD repeat-containing protein 1

WD repeat protein WDR9-form2

关联疾病

疾病名称 别名
Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Dextrocardia With Situs Inversus

Situs Inversus Totalis

Complete Situs Inversus

Complete Situs Inversus Viscerum

Situs Inversus

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Chordoid Meningioma

Meningioma, Chordoid

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
Felis catus BRWD1 VGNC VGNC:97369
Rattus norvegicus BRWD1 RGD RGD:1309030
Mus musculus BRWD1 MGD MGI:1890651
Canis familiaris BRWD1 VGNC VGNC:38536
Macaca mulatta BRWD1 VGNC VGNC:70300
Bos taurus BRWD1 VGNC VGNC:26575