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

Gene ID: 1861, updated on 5-Aug-2018

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; 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]
Expression
Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more
Orthologs

Genomic context

See TOR1A in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 V1 pseudogene 4 Neighboring gene torsin family 1 member B Neighboring gene chromosome 9 open reading frame 78 Neighboring gene ubiquitin specific peptidase 20 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
    Alpha-synuclein signaling, organism-specific biosystem
    Alpha-synuclein signaling
  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
misfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
 
chaperone-mediated protein folding IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
protein deneddylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
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
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA 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
PubMed 
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
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

NCBI Reference Sequences (RefSeq)

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

mRNA and Protein(s)

  1. NM_000113.2NP_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
    UniProtKB/TrEMBL
    B3KPA1
    Related
    ENSP00000345719.4, OTTHUMP00000022349, ENST00000351698.4, OTTHUMT00000054611
    Conserved Domains (1) summary
    pfam06309
    Location:44169
    Torsin; Torsin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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

RNA

  1. XR_929731.3 RNA Sequence

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