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    PUS7 pseudouridine synthase 7 [ Homo sapiens (human) ]

    Gene ID: 54517, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PUS7provided by HGNC
    Official Full Name
    pseudouridine synthase 7provided by HGNC
    Primary source
    HGNC:HGNC:26033
    See related
    Ensembl:ENSG00000091127 MIM:616261; AllianceGenome:HGNC:26033
    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
    IDDABS
    Summary
    Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PUS7 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105456501..105522271, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106770730..106836467, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105096948..105162718, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SRSF protein kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:104981783-104982284 Neighboring gene RNA, U6 small nuclear 1322, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26461 Neighboring gene small integral membrane protein 12-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105017433-105018419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18521 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105044328-105044513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105107997-105108545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105160613-105161230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105161545-105162199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105163483-105163983 Neighboring gene ring finger protein 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172266-105172843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105172844-105173420 Neighboring gene RAD50 interactor 1 Neighboring gene EF-hand calcium binding domain 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation. Dong B, et al. Aging (Albany NY), 2024 May 30. PMID 38819212, Free PMC Article
    2. Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway. Du J, et al. Dig Dis Sci, 2022 Apr. PMID 33811565
    3. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Han ST, et al. Mol Genet Metab, 2022 Mar. PMID 35144859, Free PMC Article
    4. The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface. Guegueniat J, et al. Nucleic Acids Res, 2021 Nov 18. PMID 34718722, Free PMC Article
    5. PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression. Chang Y, et al. Clin Transl Med, 2024 Aug. PMID 39175405, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation.
      Title: Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation.
    2. PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression.
      Title: PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression.
    3. PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/beta-catenin pathway.
      Title: PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway.
    4. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
      Title: PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
    5. Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway.
      Title: Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway.
    6. Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.
      Title: Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.
    7. The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
      Title: The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
    8. HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance.
      Title: HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance.
    9. Pseudouridine synthase 7 is a nuclear protein involved in stem cell development and intellectual disabilities, and is a novel interactor of SIRT1. The binding regions are predicted and analyzed based on molecular docking studies. The direct interaction occurs between SIRT1 and PUS7, as evidenced by pull-down studies and surface plasmon resonance (SPR) assay.
      Title: Biochemical insight into pseudouridine synthase 7 (PUS7) as a novel interactor of sirtuin, SIRT1.
    10. Our results confirm that PUS7 is a bona fide Mendelian disease gene and expand the list of human diseases caused by impaired pseudouridylation.
      Title: PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    Associated conditions

    Description Tests
    Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
    MedGen: C5193039 OMIM: 618342 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20485, KIAA1897, MGC17720

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables enzyme 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 pseudouridine synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tRNA pseudouridine(13) synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA pseudouridine synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA pseudouridine synthesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of hematopoietic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA pseudouridine synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pseudouridylate synthase 7 homolog
    Names
    pseudouridylate synthase 7 (putative)
    NP_001305092.1
    NP_001305093.1
    NP_061915.2
    XP_005250519.1
    XP_011514638.1
    XP_016867856.1
    XP_047276488.1
    XP_047276489.1
    XP_047276490.1
    XP_054214480.1
    XP_054214481.1
    XP_054214482.1
    XP_054214483.1
    XP_054214484.1
    XP_054214485.1

    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_001318163.1 → NP_001305092.1  pseudouridylate synthase 7 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB067484, AK128629, CA424761
      UniProtKB/TrEMBL
      B3KY42
      Conserved Domains (1) summary
      cd02576
      Location:125 → 649
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    2. NM_001318164.2 → NP_001305093.1  pseudouridylate synthase 7 homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC074013, AK091283, AK128629, CA424761, CN481800
      Consensus CDS
      CCDS34725.1
      UniProtKB/Swiss-Prot
      Q75MG4, Q96PZ0, Q9NX19
      UniProtKB/TrEMBL
      B3KY42
      Related
      ENSP00000348722.2, ENST00000356362.6
      Conserved Domains (1) summary
      cd02576
      Location:125 → 643
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    3. NM_019042.5 → NP_061915.2  pseudouridylate synthase 7 homolog isoform b

      See identical proteins and their annotated locations for NP_061915.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC074013, AK091283, AK128629, BC011396, CA424761, CN481800
      Consensus CDS
      CCDS34725.1
      UniProtKB/Swiss-Prot
      Q75MG4, Q96PZ0, Q9NX19
      UniProtKB/TrEMBL
      B3KY42
      Related
      ENSP00000417402.1, ENST00000469408.6
      Conserved Domains (1) summary
      cd02576
      Location:125 → 643
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      105456501..105522271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420533.1 → XP_047276489.1  pseudouridylate synthase 7 homolog isoform X3

      UniProtKB/TrEMBL
      B3KY42

    2. XM_017012367.3 → XP_016867856.1  pseudouridylate synthase 7 homolog isoform X1

      UniProtKB/TrEMBL
      B3KY42
      Conserved Domains (1) summary
      cd02576
      Location:125 → 649
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    3. XM_047420532.1 → XP_047276488.1  pseudouridylate synthase 7 homolog isoform X3

      UniProtKB/TrEMBL
      B3KY42

    4. XM_011516336.4 → XP_011514638.1  pseudouridylate synthase 7 homolog isoform X2

      UniProtKB/TrEMBL
      B3KY42
      Conserved Domains (2) summary
      cd02576
      Location:125 → 615
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
      pfam01424
      Location:174 → 234
      R3H; R3H domain

    5. XM_005250462.5 → XP_005250519.1  pseudouridylate synthase 7 homolog isoform X1

      See identical proteins and their annotated locations for XP_005250519.1

      UniProtKB/TrEMBL
      B3KY42
      Conserved Domains (1) summary
      cd02576
      Location:125 → 649
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    6. XM_047420534.1 → XP_047276490.1  pseudouridylate synthase 7 homolog isoform X4

      UniProtKB/TrEMBL
      E7EUH7
      Related
      ENSP00000418794.1, ENST00000481939.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      106770730..106836467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358509.1 → XP_054214484.1  pseudouridylate synthase 7 homolog isoform X3

      UniProtKB/TrEMBL
      B3KY42

    2. XM_054358506.1 → XP_054214481.1  pseudouridylate synthase 7 homolog isoform X1

      UniProtKB/TrEMBL
      B3KY42

    3. XM_054358508.1 → XP_054214483.1  pseudouridylate synthase 7 homolog isoform X3

      UniProtKB/TrEMBL
      B3KY42

    4. XM_054358507.1 → XP_054214482.1  pseudouridylate synthase 7 homolog isoform X2

      UniProtKB/TrEMBL
      B3KY42

    5. XM_054358505.1 → XP_054214480.1  pseudouridylate synthase 7 homolog isoform X1

      UniProtKB/TrEMBL
      B3KY42

    6. XM_054358510.1 → XP_054214485.1  pseudouridylate synthase 7 homolog isoform X4

      UniProtKB/TrEMBL
      E7EUH7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PZ0.2 GenPept UniProtKB/Swiss-Prot:Q96PZ0

    Gene LinkOut

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

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