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

Gene ID: 83448, updated on 4-Jul-2021

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
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
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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See PUS7L in Genome Data Viewer
Location:
12q12
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (43718992..43758790, complement)
105.20201022 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 THAP domain containing 12 pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 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. 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
  3. 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
  4. 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
  5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

See all (23) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

Associated conditions

Description Tests
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available

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
 PubMed 
Process Evidence Code Pubs
involved_in pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
pseudouridylate synthase 7 homolog-like protein
Names
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_016875486.1
XP_016875487.1

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 7 homolog-like protein 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
    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 7 homolog-like protein 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
    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 7 homolog-like protein 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 7 homolog-like protein 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
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 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 7 homolog-like protein isoform X3

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

  2. XM_006719623.3 → XP_006719686.1  pseudouridylate synthase 7 homolog-like protein isoform X5

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

  3. XM_017019998.2 → XP_016875487.1  pseudouridylate synthase 7 homolog-like protein isoform X4

  4. XM_011538790.3 → XP_011537092.1  pseudouridylate synthase 7 homolog-like protein isoform X2

    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_017019997.2 → XP_016875486.1  pseudouridylate synthase 7 homolog-like protein isoform X4

RNA

  1. XR_001748877.2 RNA Sequence

  2. XR_002957382.1 RNA Sequence

  3. XR_944748.2 RNA Sequence

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

Gene LinkOut

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

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