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    Torsin torsin [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 31399, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Torsinprovided by FlyBase
    Official Full Name
    torsinprovided by FlyBase
    Primary source
    FLYBASE:FBgn0025615
    Locus tag
    Dmel_CG3024
    See related
    AllianceGenome:FB:FBgn0025615
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG3024; Dmel\CG3024; DmTorp4a; dtor; dTor; DTor; dtorsin; EG:84H4.1; torp4a; Torp4a; TORP4A; torsin
    Summary
    Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in several processes, including eye pigment granule organization; larval fat body development; and nuclear envelope budding. Part of nuclear membrane protein complex. Is active in endoplasmic reticulum and nuclear envelope. Is expressed in several structures, including adult head; embryonic/larval midgut; eye disc anterior to the morphogenetic furrow; eye disc posterior to the morphogenetic furrow; and interommatidial bristle. Used to study dystonia. 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]
    Orthologs
    all
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    Genomic context

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    See Torsin in Genome Data Viewer
    Location:
    4C11-4C11; 1-8 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (4648592..4650032, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (4542625..4544065, complement)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Helix loop helix protein 4C Neighboring gene mitochondrial ribosomal protein L30 Neighboring gene cap binding protein 80 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster. Wakabayashi-Ito N, et al. Biol Open, 2015 Apr 17. PMID 25887123, Free PMC Article
    2. Getting mRNA-Containing Ribonucleoprotein Granules Out of a Nuclear Back Door. Parchure A, et al. Neuron, 2017 Nov 1. PMID 29096075
    3. Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. Wakabayashi-Ito N, et al. PLoS One, 2011. PMID 22022556, Free PMC Article
    4. Torsins Are Essential Regulators of Cellular Lipid Metabolism. Grillet M, et al. Dev Cell, 2016 Aug 8. PMID 27453503
    5. Invertebrate models of dystonia. Caldwell KA, et al. Curr Neuropharmacol, 2013 Jan. PMID 23814534, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Torsin and NEP1R1-CTDNEP1 phosphatase affect interphase nuclear pore complex insertion by lipid-dependent and lipid-independent mechanisms.
      Title: Torsin and NEP1R1-CTDNEP1 phosphatase affect interphase nuclear pore complex insertion by lipid-dependent and lipid-independent mechanisms.
    2. The dtorsin mutant showed a very strong genetic interaction with Pu (Punch: GTP cyclohydrolase), the ortholog of the human gene underlying DYT14 dystonia.
      Title: Dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to misfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chaperone cofactor-dependent protein refolding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in eye pigment granule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in larval fat body development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane lipid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear envelope budding IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in nuclear envelope budding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of dopamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle scission IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in vesicle scission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear membrane protein complex IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    torsin
    Names
    CG3024-PA
    CG3024-PB
    Torsin-PA
    Torsin-PB
    dtorsin
    torp4a

    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_004354.4 Reference assembly

      Range
      4648592..4650032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297937.1 → NP_001284866.1  torsin, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001284866.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      B4F5H4, B4F5H5, B4F5H6, B4F5I2, C0MLF3, C0MLF6, C0MLG2, O77277, Q8T037
      UniProtKB/TrEMBL
      F6JQ95, F6JQA6
      Conserved Domains (2) summary
      smart00382
      Location:100 → 224
      AAA; ATPases associated with a variety of cellular activities
      cl21455
      Location:48 → 175
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_131950.4 → NP_572178.1  torsin, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_572178.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      B4F5H4, B4F5H5, B4F5H6, B4F5I2, C0MLF3, C0MLF6, C0MLG2, O77277, Q8T037
      UniProtKB/TrEMBL
      F6JQ95, F6JQA6
      Related
      FBpp0070658
      Conserved Domains (2) summary
      smart00382
      Location:100 → 224
      AAA; ATPases associated with a variety of cellular activities
      cl21455
      Location:48 → 175
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F6JQA6 F6JQA6
    O77277.2 O77277

    Gene LinkOut

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