1. Gene
  2. RPL26 - ribosomal protein L26 Gene

RPL26 - ribosomal protein L26 Gene

中文名称:核糖体蛋白 L26

种属: Homo sapiens

同用名: L26; DBA11

基因 ID: 6154 | 基因类型: protein coding

关于 RPL26

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,377,516-8,383,193 (from NCBI)

This gene has 13 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 654.6), bone marrow (RPKM 461.4) 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。该基因编码的核糖体蛋白是 60S 亚基的一个组成部分。该蛋白属于核糖体蛋白 L24P 家族。它位于细胞质中。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。该基因的突变会导致 Diamond-Blackfan 贫血。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 10 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

RPL26 基因产物(3)

mRNA Protein Name
NM_000987.5 NP_000978.1 60S ribosomal protein L26
NM_001315530.2 NP_001302459.1 60S ribosomal protein L26
NM_001315531.2 NP_001302460.1 60S ribosomal protein L26
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 5'-UTR binding IMP
IMP: 通过突变表型推断
16213212 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16213212 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
18697920 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
16213212 GOA
part of cytosolic large ribosomal subunit IDA
IDA: 通过直接分析推断
32669547 GOA
located in cytosolic ribosome IDA
IDA: 通过直接分析推断
16213212 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
16213212 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
16213212 GOA
part of ribonucleoprotein complex IMP
IMP: 通过突变表型推断
16213212 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

RPL26 蛋白结构

KOW

KOW: KOW motif (51 - 83)

  • 0
  • 100
  • 145 a.a.
蛋白主名 其他名称

60S ribosomal protein L26

large ribosomal subunit protein uL24

关联疾病

疾病名称 别名
Diamond-Blackfan Anemia 11

DBA11

Rpl26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 11

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

Macrocytic Anemia

Anemia Macrocytic

Anemia, Macrocytic

Macrocytic Anaemia

Pierre Robin Syndrome

Pierre Robin Sequence

Glossoptosis, Micrognathia, And Cleft Palate

Pierre Robin Syndrome Skeletal Dysplasia Polydactyly

Pierre-Robin Syndrome

Isolated Pierre Robin Sequence

Isolated Pierre-Robin Syndrome

PRBNS

Robin Sequence

Robin Syndrome

Isolated Pierre Robin Syndrome

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

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 RPL26 MGD MGI:106022
Rattus norvegicus RPL26 RGD RGD:1310607