1. Gene
  2. RPL5 - ribosomal protein L5 Gene

RPL5 - ribosomal protein L5 Gene

中文名称:核糖体蛋白 L5

种属: Homo sapiens

同用名: L5; uL18; MSTP030; PPP1R135

基因 ID: 6125 | 基因类型: protein coding

关于 RPL5

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,831,986-92,841,924 (from NCBI)

This gene has 11 transcripts (splice variants), 226 orthologues and is associated with 59 phenotypes. Ubiquitous expression in ovary (RPKM 1433.7), thyroid (RPKM 620.7) 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。这些亚基一起由四种 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 L18P 家族的成员和 60S 亚基的组成部分。编码的蛋白质结合 5S rRNA 形成称为 5S 核糖核蛋白颗粒 (RNP) 的稳定复合物,这是将非核糖体相关的细胞质 5S rRNA 运输到核仁以组装成核糖体所必需的。编码的蛋白质还可以通过激活下游肿瘤抑制因子和下调癌蛋白表达来抑制肿瘤发生。已在 Diamond-Blackfan 贫血 (DBA) 患者中发现该基因的突变。该基因与位于其第五个内含子的小核仁 RNA 基因 U21 共同转录。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。[RefSeq 提供,2017 年 3 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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]

RPL5 基因产物(1)

mRNA Protein Name
NM_000969.5 NP_000960.2 60S ribosomal protein L5
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 5S rRNA binding IDA
IDA: 通过直接分析推断
18560357 GOA
enables mRNA 3'-UTR binding IDA
IDA: 通过直接分析推断
16213212 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
16213212 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9465063 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
enables ubiquitin ligase inhibitor activity IDA
IDA: 通过直接分析推断
18560357 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
18560357 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein neddylation IDA
IDA: 通过直接分析推断
18560357 GOA
involved in negative regulation of ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
18560357 GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
18560357 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
18560357 GOA
involved in positive regulation of translation IDA
IDA: 通过直接分析推断
16213212 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
18560357 GOA
involved in rRNA processing IMP
IMP: 通过突变表型推断
18697920 GOA
involved in regulation of signal transduction by p53 class mediator IMP
IMP: 通过突变表型推断
24120868 GOA
involved in ribosomal large subunit assembly IMP
IMP: 通过突变表型推断
24120868 GOA
involved in ribosomal large subunit biogenesis 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
15314173 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
located in nucleolus IDA
IDA: 通过直接分析推断
15469983 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
24120868 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9687515 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
15314173 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
18809582 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

RPL5 蛋白结构

Ribosomal_L18p

Ribosomal_L18p: Ribosomal L18 of archaea, bacteria, mitoch. and chloroplast (26 - 173)

Ribosomal_L18_c

Ribosomal_L18_c: Ribosomal L18 C-terminal region (192 - 283)

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

60S ribosomal protein L5

large ribosomal subunit protein uL18

RPL5 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
RPL5 P46777 RPS23 Homo sapiens P62266
Anti Tag CoIP
35271311
种属内
RPL5 P46777 RPS23 Homo sapiens P62266
Density Sedimentation
20434207
种属内
RPL5 P46777 RPL23 Homo sapiens P62829
Anti Tag CoIP
35271311
种属内
RPL5 P46777 RPL23 Homo sapiens P62829
Crosslink
30021884
种属内
RPL5 P46777 RRP1B Homo sapiens Q14684
Anti Tag CoIP
35271311
种属内
RPL5 P46777 MDM2 Homo sapiens Q00987
Anti Bait CoIP
17110929
种属内
RPL5 P46777 SURF2 Homo sapiens Q15527
Y2H
21900206
种属内
RPL5 P46777 SURF2 Homo sapiens Q15527
Anti Tag CoIP
35271311
种属间
RPL5 P46777 Dcc Rattus norvegicus Q63155
Anti Bait CoIP
20434207
种属间
RPL5 P46777 Dcc Rattus norvegicus Q63155
Confocal
20434207
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
Diamond-Blackfan Anemia 6

DBA6

Aase-Smith Syndrome Ii

Aase Syndrome

Aase Smith Syndrome 2

Rpl5-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 6

Diamond-Blackfan Anemia 1

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

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia

Hemangioma

Hemangiomas

Interatrial Communication

Asd

Atrial Septal Defect

Interauricular Communication

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

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Macrocytic Anemia

Anemia Macrocytic

Anemia, Macrocytic

Macrocytic Anaemia

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, X-Linked

DKCX

X-Linked Dyskeratosis Congenita

Zinsser-Cole-Engman Syndrome

Hoyeraal-Hreidarsson Syndrome

Dyskeratosis Congenita X-Linked

HHS

Cerebellar Hypoplasia With Pancytopenia

Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

Dyskeratosis Congenita

Bowen-Conradi Syndrome

BWCNS

Bowen Hutterite Syndrome

Bowen-Conradi Hutterite Syndrome

Bowen Syndrome, Hutterite Type

Bowen Hutterite Syndrome, Formerly

Hutterite Syndrome

Bowen Syndrome Hutterite Type

Fetal Growth Retardation

Pure Red-Cell Aplasia

Pure Red Cell Aplasia

Primary Red Cell Aplasia

Red Cell Hypoplasia

Prca

Red-Cell Aplasia Pure

Red-Cell Aplasia, Pure

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Anauxetic Dysplasia 1

Anauxetic Dysplasia

Spondylometaepiphyseal Dysplasia, Menger Type

Spondylometaepiphyseal Dysplasia, Anauxetic Type

Spondyloepimetaphyseal Dysplasia, Anauxetic Type

ANXD1

Anxd

Spondylometaepiphyseal Dysplasia Anauxetic Type

Spondylometaepiphyseal Dysplasia Menger Type

Ad

Spondyloepimetaphyseal Dysplasia, Menger Type

Dysplasia, Anauxetic, Type 1

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

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

Orofacial Cleft

Cleft, Orofacial

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
Canis familiaris RPL5 VGNC VGNC:54064
Rattus norvegicus RPL5 RGD RGD:619825
Macaca mulatta RPL5 VGNC VGNC:100065
Mus musculus RPL5 MGD MGI:102854