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

Gene ID: 1861, updated on 19-Jul-2014
Official Symbol
TOR1Aprovided by HGNC
Official Full Name
torsin family 1, member A (torsin A)provided by HGNC
Primary source
HGNC:3098
See related
Ensembl:ENSG00000136827; HPRD:06897; MIM:605204; Vega:OTTHUMG00000020794
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; 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]
See TOR1A in Epigenomics, MapViewer
Location:
9q34
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (129812942..129824162, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132575221..132586441, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like Neighboring gene torsin family 1, member B (torsin B) Neighboring gene chromosome 9 open reading frame 78 Neighboring gene ubiquitin specific peptidase 20 Neighboring gene microRNA 6855

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
 
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IDA
Inferred from Direct Assay
more info
 
ER-associated misfolded protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
chaperone mediated protein folding requiring cofactor IEA
Inferred from Electronic Annotation
more info
 
chaperone-mediated protein folding IDA
Inferred from Direct Assay
more info
 
chaperone-mediated protein transport IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear envelope organization ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear membrane organization ISS
Inferred from Sequence or Structural Similarity
more info
 
organelle organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic vesicle endocytosis IMP
Inferred from Mutant Phenotype
more info
 
protein deneddylation IMP
Inferred from Mutant Phenotype
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
 
protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of dopamine uptake involved in synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
wound healing, spreading of cells ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
 
nuclear envelope ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle IDA
Inferred from Direct Assay
more info
 
transport vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
torsin-1A
Names
torsin-1A
torsin ATPase 1
torsin ATPase-1A
dystonia 1 protein
torsin family 1 member A
dystonia 1, torsion (autosomal dominant; torsin A)

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 

    Range
    5001..16221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000113.2NP_000104.1  torsin-1A precursor

    See proteins identical to NP_000104.1

    Status: REVIEWED

    Source sequence(s)
    AF007871, AK056062, AK075343, AU098588, BC000674, BC014484, BU790507
    Consensus CDS
    CCDS6930.1
    UniProtKB/TrEMBL
    B3KPA1
    UniProtKB/Swiss-Prot
    O14656
    Related
    ENSP00000345719, OTTHUMP00000022349, ENST00000351698, OTTHUMT00000054611
    Conserved Domains (1) summary
    cd00009
    Location:70219
    Blast Score: 96
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    129812942..129824162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    102174061..102185267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    132724350..132735481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)