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  2. RPS3 - ribosomal protein S3 Gene

RPS3 - ribosomal protein S3 Gene

中文名称:核糖体蛋白 S3

种属: Homo sapiens

同用名: S3

基因 ID: 6188 | 基因类型: protein coding

关于 RPS3

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:75,399,518-75,422,302 (from NCBI)

This gene has 20 transcripts (splice variants), 105 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 566.1), bone marrow (RPKM 278.4) 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。该基因编码一种核糖体蛋白,它是 40S 亚基的一个组成部分,它构成了翻译起始区域的一部分。该蛋白属于核糖体蛋白的 S3P 家族。对小鼠和大鼠蛋白质的研究表明,该蛋白质具有核糖体外作用,作为参与修复紫外线诱导的 DNA 损伤的核酸内切酶。该蛋白质似乎位于细胞质和细胞核中,但不在核仁中。与邻近的正常结肠粘膜相比,已观察到该基因在结肠腺癌和腺瘤性息肉中的表达水平更高。该基因与分别位于其第一和第五内含子中的小核仁 RNA 基因 U15A 和 U15B 共转录。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。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2012 年 5 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, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an Endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RPS3 基因产物(4)

mRNA Protein Name
NM_001005.5 NP_000996.2 40S ribosomal protein S3 isoform 1
NM_001256802.2 NP_001243731.1 40S ribosomal protein S3 isoform 1
NM_001260506.2 NP_001247435.1 40S ribosomal protein S3 isoform 2
NM_001260507.2 NP_001247436.1 40S ribosomal protein S3 isoform 3

RPS3 蛋白结构

KH_2

KH_2: KH domain (20 - 92)

Ribosomal_S3_C

Ribosomal_S3_C: Ribosomal protein S3, C-terminal domain (105 - 188)

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

40S ribosomal protein S3

IMR-90 ribosomal protein S3

重组 RPS3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72294 40S Ribosomal Protein S3/RPS3 Protein, Human (His) P23396-1 (A2-A243) ≥95%

关联疾病

疾病名称 别名
Diamond-Blackfan Anemia 8

DBA8

Rps7-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 8

Craniotubular Dysplasia, Ikegawa Type

CTDI

Craniotubular Dysplasia Ikegawa Type

Doid:0112340

Schopf-Schulz-Passarge Syndrome

SSPS

Eccrine Tumors With Ectodermal Dysplasia

Eccrine Tumors-Ectodermal Dysplasia

Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis

Eumycotic Mycetoma

Eumycetoma

Maduromycosis

Mycetoma

Madura Foot

Maduromycosis, Mycotic

Mycotic Mycetoma

Mycetoma Of Foot

Eumycotic Maduromycosis

Mycetoma Due To Fungal Infection

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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 RPS3 VGNC VGNC:104326
Bos taurus RPS3 VGNC VGNC:34138
Rattus norvegicus RPS3 RGD RGD:619888
Mus musculus RPS3 MGD MGI:1350917
Canis familiaris RPS3 VGNC VGNC:45736
Macaca mulatta RPS3 VGNC VGNC:101393
Others RPS3 NCBI