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PUS7 pseudouridine synthase 7 [ Homo sapiens (human) ]

Gene ID: 54517, updated on 11-Apr-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 pseudouridine synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105456501..105522271, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106770730..106836467, complement)
105.20220307 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

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. 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
  2. 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
  3. 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
  4. PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/β-catenin pathway. Zhang Q, et al. Mol Carcinog, 2023 Feb. PMID 36222184
  5. HSP90-dependent PUS7 overexpression facilitates the metastasis of colorectal cancer cells by regulating LASP1 abundance. Song D, et al. J Exp Clin Cancer Res, 2021 May 14. PMID 33990203, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

Associated conditions

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

Genotypes

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 synthase activity IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

  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

  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

    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

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

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

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

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

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

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

Gene LinkOut

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