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PUS10 pseudouridine synthase 10 [ Homo sapiens (human) ]

Gene ID: 150962, updated on 3-Apr-2024

Summary

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Official Symbol
PUS10provided by HGNC
Official Full Name
pseudouridine synthase 10provided by HGNC
Primary source
HGNC:HGNC:26505
See related
Ensembl:ENSG00000162927 MIM:612787; AllianceGenome:HGNC:26505
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; Hup10; 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
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Genomic context

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Location:
2p16.1-p15
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60940223..61018259, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60946057..61025822, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61167358..61245394, 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 ATAC-STARR-seq lymphoblastoid active region 15826 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15828 Neighboring gene peroxisomal biogenesis factor 13 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:61292895-61293396 and GRCh37_chr2:61293397-61293896 Neighboring gene SANT and BTB domain regulator of CSR Neighboring gene uncharacterized LOC105374759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61371323-61372244 Neighboring gene C2orf74 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. DOBI is cleaved by caspases during TRAIL-induced apoptotic cell death. Park SY, et al. BMB Rep, 2009 Aug 31. PMID 19712588
  2. Crystal structure of human Pus10, a novel pseudouridine synthase. McCleverty CJ, et al. J Mol Biol, 2007 Nov 9. PMID 17900615
  3. Identification of modulators of TRAIL-induced apoptosis via RNAi-based phenotypic screening. Aza-Blanc P, et al. Mol Cell, 2003 Sep. PMID 14527409
  4. Differential roles of human PUS10 in miRNA processing and tRNA pseudouridylation. Song J, et al. Nat Chem Biol, 2020 Feb. PMID 31819270
  5. The human ortholog of archaeal Pus10 produces pseudouridine 54 in select tRNAs where its recognition sequence contains a modified residue. Deogharia M, et al. RNA, 2019 Mar. PMID 30530625, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
    Title: Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
  2. PUS10 differentially participates in the metabolic pathways of miRNA and tRNA. In the nucleus, PUS10 promotes miRNA biogenesis via interaction with pri-miRNA.In the cytoplasm, PUS10 modifies tRNA, and its pseudouridylation activity is required for cell growth.
    Title: Differential roles of human PUS10 in miRNA processing and tRNA pseudouridylation.
  3. The caspase-3-mediated movement of PUS10 and the release of mitochondrial contents enhancing caspase-3 activity creates a feedback amplification loop for caspase-3 action. Therefore, any defect in the movement or interactions of PUS10 would reduce the TRAIL sensitivity of tumor cells.
    Title: Reciprocal amplification of caspase-3 activity by nuclear export of a putative human RNA-modifying protein, PUS10 during TRAIL-induced apoptosis.
  4. These data suggest that the cleaved DOBI may acquire a new function, possibly by cooperating with tBid in the mitochondrial event of cell death caused by TRAIL.
    Title: DOBI is cleaved by caspases during TRAIL-induced apoptotic cell death.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
  6. crystal structure of Pus10 (previously denoted as FLJ32312) at 2.0 A resolution and modeling studies describe protein domains and active sites
    Title: Crystal structure of human Pus10, a novel pseudouridine synthase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32312, MGC126729, MGC126755

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables primary miRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in primary miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tRNA pseudouridine synthase Pus10
Names
coiled-coil domain containing 139
coiled-coil domain-containing protein 139
pseudouridylate synthase 10
psi55 synthase
putative tRNA pseudouridine synthase Pus10
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
XP_047299431.1
XP_047299432.1
XP_047299433.1
XP_047299434.1
XP_047299435.1
XP_047299436.1
XP_047299437.1
XP_047299438.1
XP_054196672.1
XP_054196673.1
XP_054196674.1
XP_054196675.1
XP_054196676.1
XP_054196677.1
XP_054196678.1
XP_054196679.1
XP_054196680.1
XP_054196681.1
XP_054196682.1
XP_054196683.1
XP_054196684.1
XP_054196685.1
XP_054196686.1
XP_054196687.1
XP_054196688.1

NCBI Reference Sequences (RefSeq)

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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_001322123.1 → NP_001309052.1  tRNA pseudouridine synthase Pus10 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, BC101680
    Consensus CDS
    CCDS1865.1
    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  2. NM_001322124.1 → NP_001309053.1  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, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Related
    ENSP00000386074.1, ENST00000407787.5
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  3. NM_001322127.1 → NP_001309056.1  tRNA pseudouridine synthase Pus10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AA878516, AC010733, AL832208, BC143480, BP354604
    Conserved Domains (1) summary
    PRK14554
    Location:65 → 300
    PRK14554; putative pseudouridylate synthase; Provisional

  4. NM_144709.4 → NP_653310.2  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, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Related
    ENSP00000326003.6, ENST00000316752.11
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    60940223..61018259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532574.4 → XP_011530876.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530876.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  2. XM_017003428.3 → XP_016858917.1  tRNA pseudouridine synthase Pus10 isoform X3

    UniProtKB/TrEMBL
    A8K6R4

  3. XM_047443481.1 → XP_047299437.1  tRNA pseudouridine synthase Pus10 isoform X3

  4. XM_024452720.2 → XP_024308488.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  5. XM_011532568.4 → XP_011530870.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530870.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  6. XM_011532576.4 → XP_011530878.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530878.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  7. XM_047443478.1 → XP_047299434.1  tRNA pseudouridine synthase Pus10 isoform X3

  8. XM_047443476.1 → XP_047299432.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  9. XM_017003429.3 → XP_016858918.1  tRNA pseudouridine synthase Pus10 isoform X3

    UniProtKB/TrEMBL
    A8K6R4

  10. XM_011532570.3 → XP_011530872.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530872.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  11. XM_047443475.1 → XP_047299431.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  12. XM_011532573.4 → XP_011530875.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530875.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  13. XM_047443479.1 → XP_047299435.1  tRNA pseudouridine synthase Pus10 isoform X3

  14. XM_011532571.3 → XP_011530873.1  tRNA pseudouridine synthase Pus10 isoform X1

    See identical proteins and their annotated locations for XP_011530873.1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8
    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    cl28383
    Location:288 → 523
    Pus10; tRNA U54 and U55 pseudouridine synthase Pus10 [Translation, ribosomal structure and biogenesis]

  15. XM_047443480.1 → XP_047299436.1  tRNA pseudouridine synthase Pus10 isoform X3

  16. XM_047443482.1 → XP_047299438.1  tRNA pseudouridine synthase Pus10 isoform X3

  17. XM_047443477.1 → XP_047299433.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  18. XM_011532578.3 → XP_011530880.1  tRNA pseudouridine synthase Pus10 isoform X2

    UniProtKB/TrEMBL
    A8K6R4
    Conserved Domains (1) summary
    PRK14554
    Location:225 → 460
    PRK14554; putative pseudouridylate synthase; Provisional

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    60946057..61025822 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340700.1 → XP_054196675.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  2. XM_054340707.1 → XP_054196682.1  tRNA pseudouridine synthase Pus10 isoform X3

  3. XM_054340710.1 → XP_054196685.1  tRNA pseudouridine synthase Pus10 isoform X3

  4. XM_054340698.1 → XP_054196673.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  5. XM_054340701.1 → XP_054196676.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  6. XM_054340702.1 → XP_054196677.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  7. XM_054340697.1 → XP_054196672.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  8. XM_054340709.1 → XP_054196684.1  tRNA pseudouridine synthase Pus10 isoform X3

  9. XM_054340699.1 → XP_054196674.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  10. XM_054340708.1 → XP_054196683.1  tRNA pseudouridine synthase Pus10 isoform X3

  11. XM_054340705.1 → XP_054196680.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  12. XM_054340713.1 → XP_054196688.1  tRNA pseudouridine synthase Pus10 isoform X3

  13. XM_054340711.1 → XP_054196686.1  tRNA pseudouridine synthase Pus10 isoform X3

  14. XM_054340704.1 → XP_054196679.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  15. XM_054340703.1 → XP_054196678.1  tRNA pseudouridine synthase Pus10 isoform X1

    UniProtKB/Swiss-Prot
    Q3MIT2, Q5JPJ5, Q96MI8

  16. XM_054340712.1 → XP_054196687.1  tRNA pseudouridine synthase Pus10 isoform X3

  17. XM_054340706.1 → XP_054196681.1  tRNA pseudouridine synthase Pus10 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3MIT2.1 GenPept UniProtKB/Swiss-Prot:Q3MIT2

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