PUS10 - pseudouridine synthase 10 Gene

Also Known as DOBI; Hup10; CCDC139

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 150962

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables primary miRNA binding IDA
IDA: Inferred from direct assay
31819270 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables pseudouridine synthase activity IDA
IDA: Inferred from direct assay
33023933 GOA
enables tRNA pseudouridine synthase activity IDA
IDA: Inferred from direct assay
30530625 GOA
Biological Process GO Annotation Evidence References Source
involved in primary miRNA processing IDA
IDA: Inferred from direct assay
31819270 GOA
involved in tRNA pseudouridine synthesis IDA
IDA: Inferred from direct assay
30530625 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
30530625 GOA
located in nucleus IDA
IDA: Inferred from direct assay
30530625 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

tRNA pseudouridine synthase Pus10

  • coiled-coil domain containing 139

PUS10 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2 32296183
Intra
PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2 32296183
Intra
PUS10 Q3MIT2 NECAB2 Homo sapiens Q7Z6G3-2 32296183
Intra
PUS10 Q3MIT2 GLO1 Homo sapiens Q04760 32296183
Intra
PUS10 Q3MIT2 GLO1 Homo sapiens Q04760 32296183
Intra
PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7 32296183
Intra
PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7 32296183
Intra
PUS10 Q3MIT2 VPS16 Homo sapiens Q6GMQ7 32296183
Intra
PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3 32296183
Intra
PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3 32296183
Intra
PUS10 Q3MIT2 USP25 Homo sapiens Q9UHP3 32296183
Intra
PUS10 Q3MIT2 KRT16 Homo sapiens P08779 32296183
Intra
PUS10 Q3MIT2 KRT16 Homo sapiens P08779 32296183
Intra
PUS10 Q3MIT2 KRT14 Homo sapiens P02533 32296183
Intra
PUS10 Q3MIT2 KRT14 Homo sapiens P02533 32296183
Intra
PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38 32296183
Intra
PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38 32296183
Intra
PUS10 Q3MIT2 ABITRAM Homo sapiens Q9NX38 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others PUS10 NCBI