1. Gene
  2. RBMS3 - RNA binding motif single stranded interacting protein 3 Gene

RBMS3 - RNA binding motif single stranded interacting protein 3 Gene

中文名称:RNA 结合基序单链相互作用蛋白 3

种属: Homo sapiens

基因 ID: 27303 | 基因类型: protein coding

关于 RBMS3

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:29,281,071-30,010,395 (from NCBI)

This gene has 20 transcripts (splice variants), 264 orthologues and 24 paralogues. Broad expression in thyroid (RPKM 7.8), fat (RPKM 6.1) and 23 other tissues.

功能概要

该基因编码属于 c-Myc 基因单链结合蛋白家族的 RNA 结合蛋白。这些蛋白质的特点是存在两组核糖核蛋白共有序列 (RNP-CS) ,其中包含保守基序 RNP1 和 RNP2,最初在 RNA 结合蛋白中描述,并且是 DNA 结合所必需的。这些蛋白质涉及多种功能,如 DNA 复制、基因转录、细胞周期进程和细胞凋亡。编码的蛋白质因其与 alpha2 (I) 胶原启动子的上游元素的结合而被分离。这种蛋白质主要定位于细胞质的观察表明它可能参与细胞质功能,例如控制 RNA 代谢,而不是转录。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2010 年 4 月]

This gene encodes an RNA-binding protein that belongs to the c-Myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and Apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

RBMS3 基因产物(6)

mRNA Protein Name
NM_001003792.3 NP_001003792.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 3
NM_001003793.3 NP_001003793.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 1
NM_001177711.2 NP_001171182.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 5
NM_001177712.2 NP_001171183.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 4
NM_001330696.1 NP_001317625.1 RNA-binding motif, single-stranded-interacting protein 3 isoform 6
NM_014483.4 NP_055298.2 RNA-binding motif, single-stranded-interacting protein 3 isoform 2
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 mRNA 3'-UTR AU-rich region binding IDA
IDA: 通过直接分析推断
10675610 GOA
enables poly(A) binding IDA
IDA: 通过直接分析推断
10675610 GOA
enables poly(U) RNA binding IDA
IDA: 通过直接分析推断
10675610 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to tumor cell IMP
IMP: 通过突变表型推断
28409548 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
28409548 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
28409548 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
28409548 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10675610 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

RBMS3 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (63 - 123)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (142 - 206)

  • 0
  • 100
  • 200
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  • 400
  • 437 a.a.
蛋白主名 其他名称

RNA-binding motif, single-stranded-interacting protein 3

RNA binding motif, single stranded interacting protein

关联疾病

疾病名称 别名
Osteonecrosis Of The Jaw
Heimler Syndrome 2

HMLR2

Peroxisome Biogenesis Disorder 4c

Pbd4c

Peroxisomal Biogenesis Disorder 4c

Heimler Syndrome, Type 2

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Foxp1 Syndrome

Mental Retardation With Language Impairment And With Or Without Autistic Features

Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

Intellectual Disability With Language Impairment And With Or Without Autistic Features

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 RBMS3 VGNC VGNC:33811
Mus musculus RBMS3 MGD MGI:2444477
Macaca mulatta RBMS3 VGNC VGNC:76474
Rattus norvegicus RBMS3 RGD RGD:1588240
Felis catus RBMS3 VGNC VGNC:64537
Canis familiaris RBMS3 VGNC VGNC:45429