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

Gene ID: 83448, updated on 5-Mar-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
Predicted to enable pseudouridine synthase activity. Predicted to be involved in pseudouridine synthesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 3.3), appendix (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43718992..43758790, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43677351..43717488, complement)
105.20220307 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 (26) 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ34711, FLJ40012, DKFZp434G1415, DKFZp781B2386

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_2023_10

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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