1. Gene
  2. RPS19 - ribosomal protein S19 Gene

RPS19 - ribosomal protein S19 Gene

中文名称:核糖体蛋白 S19

种属: Homo sapiens

同用名: DBA; S19; DBA1; eS19; LOH19CR1

基因 ID: 6223 | 基因类型: protein coding

关于 RPS19

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,860,255-41,872,925 (from NCBI)

This gene has 8 transcripts (splice variants), 230 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 359.5), lymph node (RPKM 249.2) 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 40S 亚基的一个组成部分。该蛋白属于核糖体蛋白的 S19E 家族。它位于细胞质中。该基因的突变会导致部分患者出现 Diamond-Blackfan 贫血 (DBA) ,这是一种以红细胞前体细胞缺失或减少为特征的体质性红细胞减少症。这表明除了其核糖体功能外,该基因在红细胞生成分化和增殖中可能具有核糖体外功能。已经观察到与匹配的正常结肠组织相比,该基因在一些原发性结肠癌中的表达水平更高。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]

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 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. 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]

RPS19 基因产物(4)

mRNA Protein Name
NM_001022.4 NP_001013.1 40S ribosomal protein S19 isoform 1
NM_001321483.2 NP_001308412.1 40S ribosomal protein S19 isoform 1
NM_001321484.2 NP_001308413.1 40S ribosomal protein S19 isoform 1
NM_001321485.2 NP_001308414.1 40S ribosomal protein S19 isoform 2
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 fibroblast growth factor binding IPI
IPI: 通过物理相互作用推断
11716516 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
11226885 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16266891 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
16266891 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
17517689 GOA
located in cytosol IDA
IDA: 通过直接分析推断
11716516 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
located in nucleolus IDA
IDA: 通过直接分析推断
12586610 GOA
is active in postsynaptic density EXP
EXP: 通过实验结果推断
21170055 GOA
is active in postsynaptic density IDA
IDA: 通过直接分析推断
21170055 GOA
located in ribosome IDA
IDA: 通过直接分析推断
17517689 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

RPS19 蛋白结构

Ribosomal_S19e

Ribosomal_S19e: Ribosomal protein S19e (4 - 141)

  • 0
  • 100
  • 145 a.a.
蛋白主名 其他名称

40S ribosomal protein S19

loss of heterozygosity on chromosome 19, region 1

RPS19 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
RPS19 P39019 RPS16 Homo sapiens P62249 30021884
种属内
RPS19 P39019 HTT Homo sapiens P42858 32814053
种属内
RPS19 P39019 HTT Homo sapiens P42858 32814053
种属内
RPS19 P39019 HTT Homo sapiens P42858 32814053
种属内
RPS19 P39019 H1-5 Homo sapiens P16401 30021884
种属内
RPS19 P39019 PIM1 Homo sapiens P11309 16266891
种属内
RPS19 P39019 PIM1 Homo sapiens P11309
Y2H
16266891
种属内
RPS19 P39019 PIM1 Homo sapiens P11309 16266891
种属内
RPS19 P39019 PIM1 Homo sapiens P11309 16266891
种属内
RPS19 P39019 SPG21 Homo sapiens Q9NZD8 32296183
种属内
RPS19 P39019 SPG21 Homo sapiens Q9NZD8 32296183
种属内
RPS19 P39019 SPG21 Homo sapiens Q9NZD8 32296183
种属内
RPS19 P39019 ATXN1 Homo sapiens P54253 32814053
种属内
RPS19 P39019 ATXN1 Homo sapiens P54253 32814053
种属内
RPS19 P39019 ATXN1 Homo sapiens P54253 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 RPS19 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71265 RPS19 Protein, Human P39019 (P2-H145) ≥95%

RPS19 抗体

目录号 产品名 应用 反应物种
HY-P82007 RPS19 Antibody (YA1752) WB, IHC-P, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
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

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

Pure Red-Cell Aplasia

Pure Red Cell Aplasia

Primary Red Cell Aplasia

Red Cell Hypoplasia

Prca

Red-Cell Aplasia Pure

Red-Cell Aplasia, Pure

Transient Erythroblastopenia Of Childhood

Erythroblastopenia, Transient

Transient Acquired Pure Red Cell Aplasia

TEC

Familial Transient Erythroblastopenia Of Childhood

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

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

Deficiency Anemia

Anemia

Deficiency Anemias

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

Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities

X-Linked Dyserythropoietic Anemia

X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia

XLANP

Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities

X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities

Anemia Without Thrombocytopenia, X-Linked

XLAWT

Anemia X-Linked With Variable Neutropenia

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

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

MLASA3

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 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

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital

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

Physical Disorder

Physical Illness

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

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Orofacial Cleft

Cleft, Orofacial

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 RPS19 VGNC VGNC:53969
Mus musculus RPS19 MGD MGI:1333780
Rattus norvegicus RPS19 RGD RGD:68440
Macaca mulatta RPS19 VGNC VGNC:103856
Others RPS19 NCBI