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  2. RPL13A - ribosomal protein L13a Gene

RPL13A - ribosomal protein L13a Gene

中文名称:核糖体蛋白 L13a

种属: Homo sapiens

同用名: L13A; TSTA1

基因 ID: 23521 | 基因类型: protein coding

关于 RPL13A

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,487,608-49,492,308 (from NCBI)

This gene has 22 transcripts (splice variants), 221 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 1600.3), lymph node (RPKM 1020.4) and 25 other tissues.

功能概要

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 L13P 家族的一个成员,该家族是 60S 亚基的一个组成部分。作为 IFN-γ 激活的翻译抑制剂 (GAIT) 复合物的组成部分,编码的蛋白质还在抑制炎症基因中发挥作用。该基因与分别位于第二、第四、第五和第六个内含子的小核仁 RNA 基因 U32、U33、U34 和 U35 共转录。对于编码核糖体蛋白的基因来说,这是典型的,该基因有多个经过处理的假基因分散在整个基因组中。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

Ribosomes, the 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 a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

RPL13A 基因产物(2)

mRNA Protein Name
NM_001270491.2 NP_001257420.1 60S ribosomal protein L13a isoform 2
NM_012423.4 NP_036555.1 60S ribosomal protein L13a isoform 1
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 structural constituent of ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to type II interferon IDA
IDA: 通过直接分析推断
15479637 GOA
involved in negative regulation of formation of translation preinitiation complex IDA
IDA: 通过直接分析推断
17218275 GOA
involved in negative regulation of translation IDA
IDA: 通过直接分析推断
14567916 GOA
involved in negative regulation of translation IMP
IMP: 通过突变表型推断
15479637 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GAIT complex IDA
IDA: 通过直接分析推断
15479637 GOA
part of cytosolic large ribosomal subunit IDA
IDA: 通过直接分析推断
32669547 GOA
part of cytosolic large ribosomal subunit IPI
IPI: 通过物理相互作用推断
25901680 GOA
located in cytosolic ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
15479637 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

RPL13A 蛋白结构

Ribosomal_L13

Ribosomal_L13: Ribosomal protein L13 (7 - 120)

  • 0
  • 100
  • 203 a.a.
蛋白主名 其他名称

60S ribosomal protein L13a

23 kDa highly basic protein

关联疾病

疾病名称 别名
Spermatogenic Failure 2

SPGF2

Aspermiogenesis Factor

Asg

Spermatogenic Failure 1

Oligosynaptic Infertility

SPGF1

Oligochiasmatic Infertility

Oligochiasmic Infertility

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
Felis catus RPL13A VGNC VGNC:103747
Rattus norvegicus RPL13A RGD RGD:628697
Canis familiaris RPL13A VGNC VGNC:103701
Mus musculus RPL13A MGD MGI:1351455
Bos taurus RPL13A VGNC VGNC:53040