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PUS10 pseudouridine synthase 10 [ Homo sapiens (human) ]

Gene ID: 150962, updated on 10-Oct-2019

Summary

Official Symbol
PUS10provided by HGNC
Official Full Name
pseudouridine synthase 10provided by HGNC
Primary source
HGNC:HGNC:26505
See related
Ensembl:ENSG00000162927 MIM:612787
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOBI; CCDC139
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]
Expression
Ubiquitous expression in small intestine (RPKM 2.6), lymph node (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See PUS10 in Genome Data Viewer
Location:
2p16.1-p15
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (60940218..61019693, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61167548..61245365, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene non-POU domain containing, octamer-binding pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene peroxisomal biogenesis factor 13 Neighboring gene KIAA1841 Neighboring gene uncharacterized LOC105374759 Neighboring gene uncharacterized LOC339803

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.
NHGRI GWA Catalog
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32312, MGC126729, MGC126755

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA pseudouridine synthase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
putative tRNA pseudouridine synthase Pus10
Names
coiled-coil domain containing 139
coiled-coil domain-containing protein 139
pseudouridylate synthase 10
psi55 synthase
tRNA pseudouridine 55 synthase
tRNA pseudouridylate synthase
tRNA-uridine isomerase
NP_001309052.1
NP_001309053.1
NP_001309056.1
NP_653310.2
XP_011530870.1
XP_011530872.1
XP_011530873.1
XP_011530875.1
XP_011530876.1
XP_011530878.1
XP_011530880.1
XP_016858917.1
XP_016858918.1
XP_024308488.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001322123.1NP_001309052.1  putative tRNA pseudouridine synthase Pus10 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, BC101680
    Consensus CDS
    CCDS1865.1
    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  2. NM_001322124.1NP_001309053.1  putative tRNA pseudouridine synthase Pus10 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, AK291729, AW503429, BC143480, BP226056
    Consensus CDS
    CCDS1865.1
    UniProtKB/Swiss-Prot
    Q3MIT2
    UniProtKB/TrEMBL
    A8K6R4
    Related
    ENSP00000386074.1, ENST00000407787.5
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  3. NM_001322127.1NP_001309056.1  putative tRNA pseudouridine synthase Pus10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, AL832208, BC143480, BP354604
    Conserved Domains (1) summary
    PRK14554
    Location:65300
    PRK14554; putative pseudouridylate synthase; Provisional
  4. NM_144709.4NP_653310.2  putative tRNA pseudouridine synthase Pus10 isoform 1

    See identical proteins and their annotated locations for NP_653310.2

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, AL832208, BC101680, BP354604
    Consensus CDS
    CCDS1865.1
    UniProtKB/Swiss-Prot
    Q3MIT2
    Related
    ENSP00000326003.6, ENST00000316752.11
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    60940218..61019693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532574.3XP_011530876.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530876.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  2. XM_017003428.2XP_016858917.1  putative tRNA pseudouridine synthase Pus10 isoform X3

  3. XM_024452720.1XP_024308488.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  4. XM_011532568.3XP_011530870.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530870.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  5. XM_011532576.3XP_011530878.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530878.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  6. XM_017003429.2XP_016858918.1  putative tRNA pseudouridine synthase Pus10 isoform X3

  7. XM_011532570.2XP_011530872.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530872.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  8. XM_011532573.3XP_011530875.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530875.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  9. XM_011532571.2XP_011530873.1  putative tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530873.1

    UniProtKB/Swiss-Prot
    Q3MIT2
    Conserved Domains (1) summary
    cl28383
    Location:288523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]
  10. XM_011532578.2XP_011530880.1  putative tRNA pseudouridine synthase Pus10 isoform X2

    Conserved Domains (1) summary
    PRK14554
    Location:225460
    PRK14554; putative pseudouridylate synthase; Provisional
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