1. Gene
  2. PUS10 - pseudouridine synthase 10 Gene

PUS10 - pseudouridine synthase 10 Gene

中文名称:假尿苷合酶 10

种属: Homo sapiens

同用名: DOBI; Hup10; CCDC139

基因 ID: 150962 | 基因类型: protein coding

关于 PUS10

Cytogenetic location: 2p16.1-p15 Genomic coordinates (GRCh38): 2:60,940,223-61,018,259 (from NCBI)

This gene has 6 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in small intestine (RPKM 2.6), lymph node (RPKM 2.3) and 25 other tissues.

功能概要

假尿苷化,尿苷异构化为假尿苷,是 RNA 中最常见的转录后核苷酸修饰,对于剪接体生物发生等生物学功能至关重要。假尿苷酸合成酶,如 PUS10,催化结构 RNA 的假尿苷化,包括转移、核糖体和剪接 RNA。这些酶还充当 RNA 伴侣,促进 tRNA 的正确折叠和组装 (McCleverty 等人,2007 [PubMed 17900615]) 。[OMIM 提供,2009 年 5 月]

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These Enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

PUS10 基因产物(4)

mRNA Protein Name
NM_001322123.1 NP_001309052.1 tRNA pseudouridine synthase Pus10 isoform 1
NM_001322124.1 NP_001309053.1 tRNA pseudouridine synthase Pus10 isoform 1
NM_001322127.1 NP_001309056.1 tRNA pseudouridine synthase Pus10 isoform 2
NM_144709.4 NP_653310.2 tRNA pseudouridine synthase Pus10 isoform 1
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 primary miRNA binding IDA
IDA: 通过直接分析推断
31819270 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables pseudouridine synthase activity IDA
IDA: 通过直接分析推断
33023933 GOA
enables tRNA pseudouridine synthase activity IDA
IDA: 通过直接分析推断
30530625 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in primary miRNA processing IDA
IDA: 通过直接分析推断
31819270 GOA
involved in tRNA pseudouridine synthesis IDA
IDA: 通过直接分析推断
30530625 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
30530625 GOA
located in nucleus IDA
IDA: 通过直接分析推断
30530625 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
蛋白主名 其他名称

tRNA pseudouridine synthase Pus10

coiled-coil domain containing 139

PUS10 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
Intra PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2
Y2H Array
32296183
Intra PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2
Validated Y2H
32296183
Intra PUS10 Q3MIT2 GLO1 Homo sapiens Q04760
Y2H Array
32296183
Intra PUS10 Q3MIT2 GLO1 Homo sapiens Q04760
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7
Y2H Array
32296183
Intra PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7
Validated Y2H
32296183
Intra PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3
Validated Y2H
32296183
Intra PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3
Y2H Array
32296183
Intra PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra PUS10 Q3MIT2 KRT14 Homo sapiens P02533
Y2H Prey Pooling
32296183
Intra PUS10 Q3MIT2 KRT14 Homo sapiens P02533
Y2H Array
32296183
Intra PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38
Validated Y2H
32296183
Intra PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38
Y2H Array
32296183
Intra PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38
Y2H Prey Pooling
32296183
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
Peroxisome Biogenesis Disorder 11a

PBD11A

Peroxisome Biogenesis Disorder Complementation Group 13

PBD-CG13

Cg13

Pbd-Cgh

Peroxisome Biogenesis Disorder Complementation Group H

Peroxisome Biogenesis Disorder, Type 11a

Peroxisome Biogenesis Disorder, Complementation Group 13

Astrakhan Spotted Fever
Siberian Tick Typhus

North Asian Tick Typhus

Manchurian Typhus

North Asian Tick Fever

Rickettsia Sibirica Spotted Fever

Spotted Fever Group Rickettsiosis

Israeli Tick Typhus

Israeli Spotted Fever

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee 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

直系同源

种属 基因名 来源 基因 ID
Mus musculus PUS10 MGD MGI:1921717
Bos taurus PUS10 VGNC VGNC:33575
Canis familiaris PUS10 VGNC VGNC:45211
Macaca mulatta PUS10 VGNC VGNC:76547
Felis catus PUS10 VGNC VGNC:64439
Rattus norvegicus PUS10 RGD RGD:1306402