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Pus7 pseudouridylate synthase 7 [ Mus musculus (house mouse) ]

Gene ID: 78697, updated on 2-Nov-2024

Summary

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Official Symbol
Pus7provided by MGI
Official Full Name
pseudouridylate synthase 7provided by MGI
Primary source
MGI:MGI:1925947
See related
Ensembl:ENSMUSG00000057541 AllianceGenome:MGI:1925947
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
C330017I15Rik
Summary
Predicted to enable enzyme binding activity and tRNA pseudouridine(13) synthase activity. Predicted to be involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Predicted to be active in nucleus. Is expressed in cerebral cortex. Human ortholog(s) of this gene implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. Orthologous to human PUS7 (pseudouridine synthase 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bladder adult (RPKM 4.8), CNS E11.5 (RPKM 4.6) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Pus7 in Genome Data Viewer
Location:
5 A3; 5 10.42 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (23945163..23988709, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (23740165..23783711, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene expressed sequence AI506816 Neighboring gene predicted gene, 42226 Neighboring gene STARR-positive B cell enhancer ABC_E8818 Neighboring gene STARR-positive B cell enhancer ABC_E3564 Neighboring gene predicted gene, 50451 Neighboring gene STARR-seq mESC enhancer starr_12621 Neighboring gene STARR-positive B cell enhancer ABC_E4745 Neighboring gene RAD50 interactor 1 Neighboring gene RIKEN cDNA 4933427G23 gene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A catalogue of genes in mouse embryonal carcinoma F9 cells identified with expressed sequence tags. Nishiguchi S, et al. J Biochem, 1996 Apr. PMID 8743579
  2. Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders. Quesnel-Vallières M, et al. Mol Cell, 2016 Dec 15. PMID 27984743
  3. Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development. Quesnel-Vallières M, et al. Genes Dev, 2015 Apr 1. PMID 25838543, Free PMC Article
  4. The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery. Baines K, et al. Autophagy Rep, 2022. PMID 35449600, Free PMC Article
  5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
  
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pseudouridine synthase activity ISO
Inferred from Sequence Orthology
more info
  
enables pseudouridine synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables tRNA pseudouridine(13) synthase activity IEA
Inferred from Electronic Annotation
more info
  
enables tRNA pseudouridine(13) synthase activity ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in mRNA pseudouridine synthesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of translation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of translation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of hematopoietic stem cell differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of hematopoietic stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of mesoderm development ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of mesoderm development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in tRNA pseudouridine synthesis ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA pseudouridine synthesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
pseudouridylate synthase 7 homolog
NP_001276709.1
NP_001276710.1
NP_848490.2
XP_011248098.1
XP_030110770.1

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_001289780.1 → NP_001276709.1  pseudouridylate synthase 7 homolog isoform 1

    See identical proteins and their annotated locations for NP_001276709.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC117614, AK142271, AK145380, BY065820, BY067917, CD741583
    Consensus CDS
    CCDS80219.1
    UniProtKB/TrEMBL
    Q3ULP8
    Related
    ENSMUSP00000114588.3, ENSMUST00000148618.8
    Conserved Domains (1) summary
    cd02576
    Location:124 → 648
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

  2. NM_001289781.1 → NP_001276710.1  pseudouridylate synthase 7 homolog isoform 2

    See identical proteins and their annotated locations for NP_001276710.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AC117614, AK145380, AK160849, CD741583
    Consensus CDS
    CCDS51431.1
    UniProtKB/Swiss-Prot
    B7ZNL8, F7AC41, Q3TUC7, Q3UQN6, Q69Z76, Q91VU7
    UniProtKB/TrEMBL
    Q3ULP8
    Related
    ENSMUSP00000123129.2, ENSMUST00000131992.8
    Conserved Domains (1) summary
    cd02576
    Location:124 → 642
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

  3. NM_178403.5 → NP_848490.2  pseudouridylate synthase 7 homolog isoform 2

    See identical proteins and their annotated locations for NP_848490.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AC117614, AK145380, AK160849, BY065820, BY067917, CD741583
    Consensus CDS
    CCDS51431.1
    UniProtKB/Swiss-Prot
    B7ZNL8, F7AC41, Q3TUC7, Q3UQN6, Q69Z76, Q91VU7
    UniProtKB/TrEMBL
    Q3ULP8
    Related
    ENSMUSP00000113801.2, ENSMUST00000119946.8
    Conserved Domains (1) summary
    cd02576
    Location:124 → 642
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    23945163..23988709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254910.1 → XP_030110770.1  pseudouridylate synthase 7 homolog isoform X2

    Conserved Domains (1) summary
    cd02576
    Location:124 → 392
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

  2. XM_011249796.1 → XP_011248098.1  pseudouridylate synthase 7 homolog isoform X1

    Conserved Domains (1) summary
    cd02576
    Location:124 → 398
    PseudoU_synth_ScPUS7; Pseudouridine synthase, TruD family

RNA

  1. XR_880846.2 RNA Sequence

  2. XR_004942588.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91VU7.2 GenPept UniProtKB/Swiss-Prot:Q91VU7

Gene LinkOut

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