RPS29 - ribosomal protein S29 Gene

中文名称：核糖体蛋白 S29

种属: Homo sapiens

同用名: S29; uS14; DBA13

基因 ID: 6235 | 基因类型: protein coding

关于 RPS29

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,570,988-49,598,710 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 132.6), ovary (RPKM 125.8) 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 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，也是核糖体蛋白 S14P 家族的成员。该蛋白质含有可与锌结合的 C2-C2 锌指样结构域，可增强 Ras 相关蛋白 1A (KREV1) 的肿瘤抑制活性。它位于细胞质中。与邻近的正常组织相比，已观察到该基因在结直肠癌中的可变表达，尽管尚未发现表达水平与疾病严重程度之间的相关性。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。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2013 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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

RPS29 基因产物(3)

mRNA	Protein	Name
NM_001030001.4	NP_001025172.1	40S ribosomal protein S29 isoform 2
NM_001032.5	NP_001023.1	40S ribosomal protein S29 isoform 1
NM_001351375.2	NP_001338304.1	40S ribosomal protein S29 isoform 3

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 zinc ion binding	IDA IDA: 通过直接分析推断	8781548	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cytoplasmic translation	IDA IDA: 通过直接分析推断	25957688	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of cytosolic small ribosomal subunit	IDA IDA: 通过直接分析推断	8706699	GOA
located in ribosome	IDA IDA: 通过直接分析推断	25957688	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

RPS29 蛋白结构

Ribosomal_S14

0
56 a.a.

蛋白主名

其他名称

40S ribosomal protein S29

small ribosomal subunit protein uS14

关联疾病

疾病名称

别名

Diamond-Blackfan Anemia 13

DBA13	Rps29-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 13

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

Retinitis Pigmentosa 14

RP14	Retinitis Pigmentosa Juvenile Tulp1-Related
Retinitis Pigmentosa-14	Retinitis Pigmentosa, Type 14

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

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-RS12241	RPS29 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	RPS29	MGD	MGI:107681
Rattus norvegicus	RPS29	RGD	RGD:3596
Bos taurus	RPS29	VGNC	VGNC:34137

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