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    PUS7L pseudouridine synthase 7 like [ Homo sapiens (human) ]

    Gene ID: 83448, updated on 26-Nov-2024

    Summary

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    Official Symbol
    PUS7Lprovided by HGNC
    Official Full Name
    pseudouridine synthase 7 likeprovided by HGNC
    Primary source
    HGNC:HGNC:25276
    See related
    Ensembl:ENSG00000129317 AllianceGenome:HGNC:25276
    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
    Summary
    Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.3), appendix (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PUS7L in Genome Data Viewer
    Location:
    12q12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43718992..43758790, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43677351..43717488, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44112795..44152593, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:43980189-43980689 Neighboring gene THAP domain containing 12 pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:44079381-44080176 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene transmembrane protein 117 Neighboring gene twinfilin actin binding protein 1

    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. Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions. Lepur A, et al. J Biomol Screen, 2016 Dec. PMID 27455993
    2. Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. Martinez NM, et al. Mol Cell, 2022 Feb 3. PMID 35051350, Free PMC Article
    3. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Kennedy RB, et al. Hum Genet, 2012 Sep. PMID 22610502, Free PMC Article
    4. Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. Scott DC, et al. Cell, 2016 Aug 25. PMID 27565346, Free PMC Article
    5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We have validated the vectors and confirmed self-association of AHCY, AHCYL1, and galectin-3. In a high-throughput BiFC screen, we identified new AHCY interaction partners: galectin-3 and PUS7L. We also describe additional steps in protein interaction analysis, applied for AHCY-galectin-3 interaction
      Title: Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. 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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    Process Evidence Code Pubs
    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 pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pseudouridylate synthase PUS7L
    Names
    pseudouridylate synthase 7 homolog-like protein
    pseudouridylate synthase 7 like
    NP_001092084.1
    NP_001092085.1
    NP_001258755.1
    NP_112582.3
    XP_006719686.1
    XP_011537092.1
    XP_011537093.1
    XP_047285581.1
    XP_047285582.1
    XP_047285583.1
    XP_054229348.1
    XP_054229349.1
    XP_054229350.1
    XP_054229351.1
    XP_054229352.1
    XP_054229353.1

    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_001098614.3 → NP_001092084.1  pseudouridylate synthase PUS7L isoform a

      See identical proteins and their annotated locations for NP_001092084.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC016143, AC093012, AL136759, BC068502, BX647494, CR627435
      Consensus CDS
      CCDS8743.1
      UniProtKB/Swiss-Prot
      B3KUJ1, Q05CU0, Q6AHZ3, Q6NUP2, Q9H0K6
      Related
      ENSP00000447706.1, ENST00000551923.5
      Conserved Domains (2) summary
      cd02576
      Location:298 → 697
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
      cl00130
      Location:22 → 49
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

    2. NM_001098615.2 → NP_001092085.1  pseudouridylate synthase PUS7L isoform a

      See identical proteins and their annotated locations for NP_001092085.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC016143, AC093012, BX647494, DB518759
      Consensus CDS
      CCDS8743.1
      UniProtKB/Swiss-Prot
      B3KUJ1, Q05CU0, Q6AHZ3, Q6NUP2, Q9H0K6
      Related
      ENSP00000415899.2, ENST00000416848.6
      Conserved Domains (2) summary
      cd02576
      Location:298 → 697
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
      cl00130
      Location:22 → 49
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

    3. NM_001271826.2 → NP_001258755.1  pseudouridylate synthase PUS7L isoform b

      See identical proteins and their annotated locations for NP_001258755.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks the exon containing the translation start site compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC016143, AK097331, BC068502, BX647494, DA950015
      Consensus CDS
      CCDS61104.1
      UniProtKB/Swiss-Prot
      Q9H0K6
      Related
      ENSP00000398497.3, ENST00000431332.7
      Conserved Domains (1) summary
      cd02576
      Location:1 → 384
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    4. NM_031292.5 → NP_112582.3  pseudouridylate synthase PUS7L isoform a

      See identical proteins and their annotated locations for NP_112582.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC016143, AL136759, BC068502, BX647494, DA950015
      Consensus CDS
      CCDS8743.1
      UniProtKB/Swiss-Prot
      B3KUJ1, Q05CU0, Q6AHZ3, Q6NUP2, Q9H0K6
      Related
      ENSP00000343081.5, ENST00000344862.10
      Conserved Domains (2) summary
      cd02576
      Location:298 → 697
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
      cl00130
      Location:22 → 49
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      43718992..43758790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538791.3 → XP_011537093.1  pseudouridylate synthase PUS7L isoform X2

      Conserved Domains (1) summary
      cd02576
      Location:310 → 676
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    2. XM_006719623.3 → XP_006719686.1  pseudouridylate synthase PUS7L isoform X4

      Conserved Domains (1) summary
      cd02576
      Location:310 → 588
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

    3. XM_047429625.1 → XP_047285581.1  pseudouridylate synthase PUS7L isoform X3

    4. XM_011538790.4 → XP_011537092.1  pseudouridylate synthase PUS7L isoform X1

      Conserved Domains (2) summary
      cd02576
      Location:307 → 706
      PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
      cl00130
      Location:31 → 58
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

    5. XM_047429626.1 → XP_047285582.1  pseudouridylate synthase PUS7L isoform X5

    6. XM_047429627.1 → XP_047285583.1  pseudouridylate synthase PUS7L isoform X6

    RNA

    1. XR_944748.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      43677351..43717488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373374.1 → XP_054229349.1  pseudouridylate synthase PUS7L isoform X2

    2. XM_054373376.1 → XP_054229351.1  pseudouridylate synthase PUS7L isoform X4

    3. XM_054373375.1 → XP_054229350.1  pseudouridylate synthase PUS7L isoform X3

    4. XM_054373373.1 → XP_054229348.1  pseudouridylate synthase PUS7L isoform X1

    5. XM_054373377.1 → XP_054229352.1  pseudouridylate synthase PUS7L isoform X5

    6. XM_054373378.1 → XP_054229353.1  pseudouridylate synthase PUS7L isoform X6

    RNA

    1. XR_008488687.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0K6.1 GenPept UniProtKB/Swiss-Prot:Q9H0K6

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