1. Gene
  2. TSR3 - TSR3 ribosome maturation factor Gene

TSR3 - TSR3 ribosome maturation factor Gene

中文名称:TSR3 核糖体成熟因子

种属: Homo sapiens

同用名: HsTsr3; C16orf42

基因 ID: 115939 | 基因类型: protein coding

关于 TSR3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,349,240-1,351,878 (from NCBI)

This gene has 2 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in fat (RPKM 23.3), kidney (RPKM 22.0) and 25 other tissues.

功能概要

启用转移酶活性。参与酶指导的 rRNA 假尿苷合成。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables transferase activity. Involved in enzyme-directed rRNA pseudouridine synthesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TSR3 基因产物(1)

mRNA Protein Name
NM_001001410.3 NP_001001410.1 18S rRNA aminocarboxypropyltransferase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 18S rRNA aminocarboxypropyltransferase activity IMP
IMP: 通过突变表型推断
27084949 GOA
enables transferase activity EXP
EXP: 通过实验结果推断
27084949 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in enzyme-directed rRNA pseudouridine synthesis IMP
IMP: 通过突变表型推断
27084949 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

TSR3 蛋白结构

RLI

RLI: Possible Fer4-like domain in RNase L inhibitor, RLI (60 - 91)

Ribo_biogen_C

Ribo_biogen_C: Ribosome biogenesis protein, C-terminal (96 - 222)

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

18S rRNA aminocarboxypropyltransferase

20S S rRNA accumulation protein 3 homolog

关联疾病

疾病名称 别名
Geleophysic Dysplasia 1

GPHYSD1

Geleophysic Dwarfism

Geleophysic Dysplasia

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

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

Geleophysic Dysplasia 3

GPHYSD3

Adult-Onset Severe Asthma
Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

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
Macaca mulatta TSR3 VGNC VGNC:78948
Felis catus TSR3 VGNC VGNC:66643
Bos taurus TSR3 VGNC VGNC:36448
Canis familiaris TSR3 VGNC VGNC:47931
Mus musculus TSR3 MGD MGI:1915577
Rattus norvegicus TSR3 RGD RGD:1565744