U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    TOR1A torsin family 1 member A [ Homo sapiens (human) ]

    Gene ID: 1861, updated on 4-May-2024

    Summary

    Official Symbol
    TOR1Aprovided by HGNC
    Official Full Name
    torsin family 1 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:3098
    See related
    Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DQ2; AMC5; DYT1
    Summary
    The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    9q34.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129812942..129824136, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142017521..142028703, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132575221..132586415, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene UBE2V1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20389 Neighboring gene torsin family 1 member B Neighboring gene Sharpr-MPRA regulatory region 13743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29122 Neighboring gene Sharpr-MPRA regulatory region 5710 Neighboring gene chromosome 9 open reading frame 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132597987-132598487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132601680-132602180 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29123 Neighboring gene Sharpr-MPRA regulatory region 12255 Neighboring gene microRNA 6855

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with torsin family 1, member A (TOR1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TOR1A; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent protein folding chaperone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent protein folding chaperone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinesin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables misfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERAD pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chaperone cofactor-dependent protein refolding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear envelope organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nuclear membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nuclear membrane organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in organelle organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein deneddylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dopamine uptake involved in synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_positive_effect regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in wound healing, spreading of cells ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    torsin-1A
    Names
    dystonia 1 protein
    dystonia 1, torsion (autosomal dominant; torsin A)
    torsin A
    torsin ATPase 1
    torsin ATPase-1A
    NP_000104.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008049.1 RefSeqGene

      Range
      5027..16221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1029

    mRNA and Protein(s)

    1. NM_000113.3NP_000104.1  torsin-1A precursor

      See identical proteins and their annotated locations for NP_000104.1

      Status: REVIEWED

      Source sequence(s)
      AF007871, AK056062, AK075343, AU098588, BC000674, BC014484, BU790507
      Consensus CDS
      CCDS6930.1
      UniProtKB/Swiss-Prot
      B2RB58, O14656, Q53Y64, Q96CA0
      UniProtKB/TrEMBL
      B4DGM9
      Related
      ENSP00000345719.4, ENST00000351698.5
      Conserved Domains (1) summary
      pfam06309
      Location:44169
      Torsin; Torsin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      129812942..129824136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      142017521..142028703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)