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

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

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001098614.3NP_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:298697
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    cl00130
    Location:2249
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  2. NM_001098615.2NP_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:298697
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    cl00130
    Location:2249
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  3. NM_001271826.2NP_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:1384
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
  4. NM_031292.5NP_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:298697
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    cl00130
    Location:2249
    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_011538791.3XP_011537093.1  pseudouridylate synthase 7 homolog-like protein isoform X3

    Conserved Domains (1) summary
    cd02576
    Location:310676
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
  2. XM_006719623.3XP_006719686.1  pseudouridylate synthase 7 homolog-like protein isoform X5

    Conserved Domains (1) summary
    cd02576
    Location:310588
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
  3. XM_017019998.2XP_016875487.1  pseudouridylate synthase 7 homolog-like protein isoform X4

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

    Conserved Domains (2) summary
    cd02576
    Location:307706
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family
    cl00130
    Location:3158
    PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
  5. XM_017019997.2XP_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

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