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    tor-2 Torsin [ Caenorhabditis elegans ]

    Gene ID: 189606, updated on 9-Dec-2024

    Summary

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    Official Symbol
    tor-2
    Official Full Name
    Torsin
    Primary source
    WormBase:WBGene00006598
    Locus tag
    CELE_Y37A1B.13
    See related
    AllianceGenome:WB:WBGene00006598
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in cellular response to misfolded protein; negative regulation of gene expression; and regulation of neuron apoptotic process. Located in endoplasmic reticulum. Is expressed in neurons. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-5 and torsion dystonia 1. Orthologous to several human genes including TOR1A (torsin family 1 member A) and TOR1B (torsin family 1 member B). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See tor-2 in Genome Data Viewer
    Location:
    chromosome: IV
    Exon count:
    3
    Sequence:
    Chromosome: IV; NC_003282.8 (13982636..13984141, complement)

    Chromosome IV - NC_003282.8Genomic Context describing neighboring genes Neighboring gene GEX Interacting protein Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Torsin

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003282.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. Cao S, et al. J Neurosci, 2005 Apr 13. PMID 15829632, Free PMC Article
    2. An animal model to discern torsin function: suppression of protein aggregation in C. elegans. Caldwell GA, et al. Adv Neurol, 2004. PMID 14509658
    3. Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Caldwell GA, et al. Hum Mol Genet, 2003 Feb 1. PMID 12554684
    4. The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily. Basham SE, et al. Development, 2001 Nov. PMID 11714689
    5. Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Gitler AD, et al. Nat Genet, 2009 Mar. PMID 19182805, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 WormBase

    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
    		  
    Process Evidence Code Pubs
    involved_in cellular response to misfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to misfolded protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chaperone cofactor-dependent protein refolding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Torsin
    NP_502683.2
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003282.8 Reference assembly

      Range
      13982636..13984141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_070282.5 → NP_502683.2  Torsin [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_502683.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9XXG5
      Conserved Domains (2) summary
      pfam06309
      Location:5 → 130
      Torsin; Torsin
      smart00382
      Location:55 → 179
      AAA; ATPases associated with a variety of cellular activities
    Nucleotide Protein
    Heading Accession and Version

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