2. Gene
  3. RPL27 - ribosomal protein L27 Gene

RPL27 - ribosomal protein L27 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核糖体蛋白 L27

种属: Homo sapiens

同用名: L27; DBA16

基因 ID: 6155 | 基因类型: protein coding

关于 RPL27

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:42,998,273-43,002,959 (from NCBI)

This gene has 8 transcripts (splice variants), 188 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 537.2), ovary (RPKM 510.1) 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 L27e 家族的一个成员和 60S 亚基的一个组成部分。已在 Diamond-Blackfan 贫血 (DBA) 患者中鉴定出该基因的剪接位点突变。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，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 L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]

RPL27 基因产物(3)

mRNA Protein Name
NM_000988.5 NP_000979.1 60S ribosomal protein L27
NM_001349921.2 NP_001336850.1 60S ribosomal protein L27
NM_001349922.2 NP_001336851.1 60S ribosomal protein L27
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 protein binding IPI
IPI: 通过物理相互作用推断
20926688 GOA
enables structural constituent of ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in rRNA processing IMP
IMP: 通过突变表型推断
25424902 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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
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

RPL27 蛋白结构

KOW

KOW: KOW motif (7 - 36)

Ribosomal_L27e

Ribosomal_L27e: Ribosomal L27e protein family (52 - 136)

  • 0
  • 100
  • 136 a.a.
蛋白主名 其他名称

60S ribosomal protein L27

large ribosomal subunit protein eL27

RPL27 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
RPL27 P61353 RRP1B Homo sapiens Q14684
Anti Tag CoIP
20926688
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 16

DBA16

Rpl27-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 16
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
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12180 RPL27 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS12181 RPL27A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RPL27 RGD RGD:621192
Mus musculus RPL27 MGD MGI:98036
Felis catus RPL27 VGNC VGNC:99440
Macaca mulatta RPL27 VGNC VGNC:99223
Canis familiaris RPL27 VGNC VGNC:55811
Bos taurus RPL27 VGNC VGNC:55868
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