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  2. RPS4X - ribosomal protein S4 X-linked Gene

RPS4X - ribosomal protein S4 X-linked Gene

中文名称:核糖体蛋白 S4 X 连锁

种属: Homo sapiens

同用名: S4; CCG2; RPS4; SCAR; SCR10; DXS306

基因 ID: 6191 | 基因类型: protein coding

关于 RPS4X

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,272,042-72,277,248 (from NCBI)

This gene has 5 transcripts (splice variants), 169 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 1675.7), lymph node (RPKM 944.2) and 25 other tissues.

功能概要

细胞质核糖体是催化蛋白质合成的细胞器,由一个小的 40S 亚基和一个大的 60S 亚基组成。这些亚基一起由 4 种 RNA 和大约 80 种结构不同的蛋白质组成。该基因编码核糖体蛋白 S4,它是 40S 亚基的一个组成部分。核糖体蛋白 S4 是唯一已知由一个以上基因编码的核糖体蛋白,即该基因和核糖体蛋白 S4,Y 连锁 (RPS4Y) 。由这些基因编码的 2 种亚型并不相同,但在功能上是等同的。核糖体蛋白 S4 属于核糖体蛋白 S4E 家族。该基因不受 X 失活的影响。有人提出,核糖体蛋白 S4 基因的单倍体不足在特纳综合征中起作用;然而,这个假设是有争议的。作为典型的编码核糖体蛋白的基因,该基因有多个经过处理的假基因分散在基因组中。[RefSeq 提供,2008 年 7 月]

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RPS4X 基因产物(1)

mRNA Protein Name
NM_001007.5 NP_000998.1 40S ribosomal protein S4, X isoform
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
24965446 GOA
enables structural constituent of ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
enables structural constituent of ribosome IMP
IMP: 通过突变表型推断
8358435 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
1795030 GOA
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
1795030 GOA
involved in ribosomal small subunit biogenesis IDA
IDA: 通过直接分析推断
34516797 GOA
involved in translation IMP
IMP: 通过突变表型推断
8358435 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic ribonucleoprotein granule IDA
IDA: 通过直接分析推断
15121898 GOA
located in cytosolic ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
part of cytosolic small ribosomal subunit IDA
IDA: 通过直接分析推断
8706699 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
17289661 GOA
located in ribosome IDA
IDA: 通过直接分析推断
8139551 GOA
part of small ribosomal subunit IDA
IDA: 通过直接分析推断
8139551 GOA
part of small-subunit processome IDA
IDA: 通过直接分析推断
34516797 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

RPS4X 蛋白结构

RS4NT

RS4NT: RS4NT (NUC023) domain (3 - 40)

S4

S4: S4 domain (43 - 90)

Ribosomal_S4e

Ribosomal_S4e: Ribosomal family S4e (94 - 170)

KOW

KOW: KOW motif (178 - 211)

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

40S ribosomal protein S4, X isoform

cell cycle gene 2

关联疾病

疾病名称 别名
Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Spermatogenic Failure, Y-Linked, 2

SPGFY2

Spermatogenic Failure, Nonobstructive, Y-Linked

Y-Linked Spermatogenic Failure 2

Azoospermia, Nonobstructive, Y-Linked

Oligozoospermia, Nonobstructive, Y-Linked

Oligospermia, Nonobstructive, Y-Linked

Spermatogenic Arrest, Y-Linked

Nonobstructive Y-Linked Spermatogenic Failure

Spermatogenic Failure Y-Linked 2

Azoospermia Non-Obstructive Y-Linked

Non-Obstructive Azoospermia And Infertility

Oligospermia Non-Obstructive Y-Linked

Oligozoospermia Non-Obstructive Y-Linked

Spermatogenic Arrest Y-Linked

Spermatogenic Failure Nonobstructive Y-Linked

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Mus musculus RPS4X MGD MGI:98158
Rattus norvegicus RPS4X RGD RGD:2324318