RPS17 - ribosomal protein S17 Gene

中文名称：核糖体蛋白 S17

种属: Homo sapiens

同用名: S17; DBA4; RPS17L; RPS17L1; RPS17L2

基因 ID: 6218 | 基因类型: protein coding

关于 RPS17

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,536,750-82,540,457 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 305 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 529.6), bone marrow (RPKM 399.8) 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 S17E 家族，位于细胞质中。该基因的突变导致 Diamond-Blackfan 贫血 4。该基因的可变剪接导致多个转录本变异。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，2014 年 4 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 ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

RPS17 基因产物(1)

mRNA	Protein	Name
NM_001021.6	NP_001012.1	40S ribosomal protein S17

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
enables structural constituent of ribosome	IMP IMP: 通过突变表型推断	18697920	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in erythrocyte homeostasis	IMP IMP: 通过突变表型推断	17647292	GOA
involved in rRNA processing	IMP IMP: 通过突变表型推断	18697920	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: 通过直接分析推断	34516797	GOA
involved in ribosomal small 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 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 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

RPS17 蛋白结构

Ribosomal_S17e

0
100
135 a.a.

蛋白主名

其他名称

40S ribosomal protein S17

small ribosomal subunit protein eS17

关联疾病

疾病名称

别名

Diamond-Blackfan Anemia 4

DBA4	Rps17-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 4

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

Hepatitis E

Pure Red-Cell Aplasia

Pure Red Cell Aplasia	Primary Red Cell Aplasia
Red Cell Hypoplasia	Prca
Red-Cell Aplasia Pure	Red-Cell Aplasia, Pure

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12228	RPS17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	RPS17	VGNC	VGNC:104713
Bos taurus	RPS17	VGNC	VGNC:49958
Mus musculus	RPS17	MGD	MGI:1309526
Rattus norvegicus	RPS17	RGD	RGD:62027

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RPS17 - ribosomal protein S17 Gene

关于 RPS17

功能概要

RPS17 基因产物(1)

RPS17 蛋白结构

关联疾病

直系同源

热门区域

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RPS17 - ribosomal protein S17 Gene

关于 RPS17

功能概要

RPS17 基因产物(1)

RPS17 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z