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    Tor4a torsin family 4, member A [ Mus musculus (house mouse) ]

    Gene ID: 227612, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tor4aprovided by MGI
    Official Full Name
    torsin family 4, member Aprovided by MGI
    Primary source
    MGI:MGI:2442720
    See related
    Ensembl:ENSMUSG00000059555 AllianceGenome:MGI:2442720
    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
    A830007P12Rik
    Summary
    Predicted to enable ATP binding activity. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum lumen and nuclear envelope. Orthologous to human TOR4A (torsin family 4 member A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in spleen adult (RPKM 28.6), colon adult (RPKM 23.1) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 A3; 2 17.06 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (25082732..25086825, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (25192720..25196813, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene Notch-regulated ankyrin repeat protein Neighboring gene predicted gene, 52547 Neighboring gene STARR-positive B cell enhancer ABC_E3362 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:25052129-25052238 Neighboring gene negative elongation factor complex member B Neighboring gene predicted gene, 22572 Neighboring gene sperm tail PG rich repeat containing 3 Neighboring gene ciliary microtubule inner protein 2A

    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. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    2. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    3. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) 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 (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7940

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    torsin-4A
    Names
    torsin family protein C9orf167 homolog

    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_146115.4 → NP_666227.2  torsin-4A

      See identical proteins and their annotated locations for NP_666227.2

      Status: VALIDATED

      Source sequence(s)
      AK043559, BY199544
      Consensus CDS
      CCDS15750.1
      UniProtKB/Swiss-Prot
      Q8BH02, Q921D7
      Related
      ENSMUSP00000080548.7, ENSMUST00000081869.7
      Conserved Domains (1) summary
      pfam06309
      Location:144 → 246
      Torsin

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      25082732..25086825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160652.1 → XP_036016545.1  torsin-4A isoform X1

      UniProtKB/Swiss-Prot
      Q8BH02, Q921D7
      Conserved Domains (1) summary
      pfam06309
      Location:144 → 246
      Torsin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BH02.1 GenPept UniProtKB/Swiss-Prot:Q8BH02

    Gene LinkOut

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

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