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

    Gene ID: 78697, updated on 9-Dec-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, Dec 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
    • 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

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

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