1. Gene
  2. RBMS1 - RNA binding motif single stranded interacting protein 1 Gene

RBMS1 - RNA binding motif single stranded interacting protein 1 Gene

中文名称:RNA 结合基序单链相互作用蛋白 1

种属: Homo sapiens

同用名: YC1; MSSP; SCR2; HCC-4; MSSP-1; MSSP-2; MSSP-3; C2orf12

基因 ID: 5937 | 基因类型: protein coding

关于 RBMS1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:160,272,151-160,493,807 (from NCBI)

This gene has 14 transcripts (splice variants), 270 orthologues and 24 paralogues. Ubiquitous expression in placenta (RPKM 34.9), endometrium (RPKM 27.3) and 24 other tissues.

功能概要

该基因编码一个小的蛋白质家族的成员,该家族的蛋白质结合单链 DNA/RNA。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。已经描述了由可变剪接和编码不同同种型产生的几种转录物变体。在 12 号染色体上发现了该基因座的假基因。[RefSeq 提供,2009 年 2 月]

This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. 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. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

RBMS1 基因产物(2)

mRNA Protein Name
NM_002897.5 NP_002888.1 RNA-binding motif, single-stranded-interacting protein 1 isoform c
NM_016836.4 NP_058520.1 RNA-binding motif, single-stranded-interacting protein 1 isoform a
基因本体论
  • 分子功能
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
10869558 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

RBMS1 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (64 - 124)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (143 - 207)

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

RNA-binding motif, single-stranded-interacting protein 1

c-myc gene single strand binding protein 2

RBMS1 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
RBMS1 P29558 TFCP2 Homo sapiens Q12800 25416956
种属内
RBMS1 P29558 TFCP2 Homo sapiens Q12800 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
Diffuse Glomerulonephritis

Glomerulonephritis Diffuse

Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations

MCPH2

Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations

Microcephaly, Primary Autosomal Recessive, 2

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type

Epidermolysis Bullosa Letalis

JEB1B

Epidermolysis Bullosa Junctionalis, Herlitz Type

Jeb-Herlitz Type

Herlitz-Pearson-Type Epidermolysis Bullosa

Junctional Epidermolysis Bullosa Herlitz Type

Jeb-H

Junctional Epidermolysis Bullosa Generalisata Gravis

Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

Epidermolysis Bullosa, Junctional, Generalized Severe

Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

Herlitz Type Epidermolysis Bullosa Junctionalis

Severe Generalized Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa, Herlitz Type

Severe Generalized Jeb

Epidermolysis Letalis

Junctional Epidermolysis Bullosa Gravis

Junctional Epidermolysis Bullosa Herlitz-Pearson Type

Herlitz Disease

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

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
Rattus norvegicus RBMS1 RGD RGD:1307777
Mus musculus RBMS1 MGD MGI:1861774
Bos taurus RBMS1 VGNC VGNC:33809
Felis catus RBMS1 VGNC VGNC:69268
Macaca mulatta RBMS1 VGNC VGNC:76686
Canis familiaris RBMS1 VGNC VGNC:45427