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    PUS10 pseudouridine synthase 10 [ Homo sapiens (human) ]

    Gene ID: 150962, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See PUS10 in Genome Data Viewer
    Location:
    2p16.1-p15
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60940223..61018259, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60946057..61025822, complement)
    RS_2024_09 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 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 
    enables tRNA pseudouridine(55) synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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, ENST00000407787.6
      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_2024_08

    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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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