1. Gene
  2. DYNLRB1 - dynein light chain roadblock-type 1 Gene

DYNLRB1 - dynein light chain roadblock-type 1 Gene

中文名称:动力蛋白轻链路障 1 型

种属: Homo sapiens

同用名: BLP; BITH; DNCL2A; DNLC2A; ROBLD1

基因 ID: 83658 | 基因类型: protein coding

关于 DYNLRB1

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,515,602-34,540,958 (from NCBI)

This gene has 5 transcripts (splice variants), 162 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 34.0), kidney (RPKM 31.8) and 25 other tissues.

功能概要

该基因是路障动力蛋白轻链家族的成员。编码的细胞质蛋白能够结合中间链蛋白,与转化生长因子-β 相互作用,并参与肌动蛋白调节蛋白的调节。该基因的上调与肝细胞癌有关,表明该基因可能参与肿瘤进展。可变剪接导致多个转录本变体。该基因的假基因已在 12 号和 18 号染色体上定义。[RefSeq 提供,2013 年 8 月]

This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]

DYNLRB1 基因产物(5)

mRNA Protein Name
NM_001319157.2 NP_001306086.1 dynein light chain roadblock-type 1 isoform d
NM_001382365.1 NP_001369294.1 dynein light chain roadblock-type 1 isoform a
NM_001382366.1 NP_001369295.1 dynein light chain roadblock-type 1 isoform e
NM_001382367.1 NP_001369296.1 dynein light chain roadblock-type 1 isoform f
NM_014183.4 NP_054902.1 dynein light chain roadblock-type 1 isoform a
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
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
part of dynein complex IPI
IPI: 通过物理相互作用推断
24986880 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

DYNLRB1 蛋白结构

Robl_LC7

Robl_LC7: Roadblock/LC7 domain (4 - 93)

  • 0
  • 96 a.a.
蛋白主名 其他名称

dynein light chain roadblock-type 1

ROBL/LC7-like 1

DYNLRB1 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
种属内
DYNLRB1 Q9NP97 MAGEA2 Homo sapiens P43356 32296183
种属内
DYNLRB1 Q9NP97 MAGEA2 Homo sapiens P43356 32296183
种属内
DYNLRB1 Q9NP97 DYNC1I2 Homo sapiens Q13409 25416956
种属内
DYNLRB1 Q9NP97 DYNC1I2 Homo sapiens Q13409 25416956
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
Tuberculous Empyema

Empyema, Tuberculous

Empyema Tuberculous

Vestibular Nystagmus

Nystagmus Associated With Disorder Of The Vestibular System

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

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 DYNLRB1 VGNC VGNC:40152
Bos taurus DYNLRB1 VGNC VGNC:28276
Felis catus DYNLRB1 VGNC VGNC:61682
Macaca mulatta DYNLRB1 VGNC VGNC:71839
Rattus norvegicus DYNLRB1 RGD RGD:619910
Mus musculus DYNLRB1 MGD MGI:1914318