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

Gene ID: 1861, updated on 29-Oct-2022

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
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Genomic context

See TOR1A in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129812942..129824136, complement)
110 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 torsin family 1 member B Neighboring gene Sharpr-MPRA regulatory region 13743 Neighboring gene Sharpr-MPRA regulatory region 5710 Neighboring gene chromosome 9 open reading frame 78 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene Sharpr-MPRA regulatory region 12255

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

Homology

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
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in ER-associated misfolded protein catabolic process 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
PubMed 
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
PubMed 
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
PubMed 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
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
PubMed 
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)

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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.

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
    O14656, Q96CA0
    UniProtKB/TrEMBL
    B3KPA1
    Related
    ENSP00000345719.4, ENST00000351698.5
    Conserved Domains (1) summary
    pfam06309
    Location:44169
    Torsin; Torsin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)