Seroatlas · Human Serome Atlas

TOR1A

Torsin-1A

Also known as: DQ2, DYT1, TOR1A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O14656
Gene
TOR1A
Ensembl
ENSG00000136827
Chromosome
9
Canonical length
332 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear membrane,Vesicles
Secretome location
Intracellular and membrane
Quaternary structure
Homohexamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

332 residues, UniProt reviewed canonical sequence.

>O14656|TOR1A
     1  MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC GQKRSLSREA
    61  LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL HGWTGTGKNF VSKIIAENIY
   121  EGGLNSDYVH LFVATLHFPH ASNITLYKDQ LQLWIRGNVS ACARSIFIFD EMDKMHAGLI
   181  DAIKPFLDYY DLVDGVSYQK AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL
   241  SVSVFNNKNS GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV
   301  AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TOR1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • liver: 34 nTPM
  • bone marrow: 33 nTPM
  • urinary bladder: 27 nTPM
  • thymus: 25 nTPM
  • smooth muscle: 24 nTPM
  • adrenal gland: 23 nTPM

Single-cell type

  • extravillous trophoblasts: 82 nCPM
  • syncytiotrophoblasts: 60 nCPM
  • migrating cytotrophoblasts: 57 nCPM
  • cytotrophoblasts: 57 nCPM
  • decidual stromal cells: 44 nCPM
  • neutrophil progenitors: 41 nCPM

Immune cell

  • eosinophil: 142 nTPM
  • basophil: 96 nTPM
  • total PBMC: 79 nTPM
  • neutrophil: 73 nTPM
  • classical monocyte: 73 nTPM
  • NK-cell: 69 nTPM

Brain region

  • cerebral cortex: 22 nTPM
  • hypothalamus: 22 nTPM
  • white matter: 20 nTPM
  • hippocampal formation: 19 nTPM
  • basal ganglia: 19 nTPM
  • cerebellum: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TOR1A.

Disease | AllUniProt

Conditions TOR1A is implicated in, by any mechanism.

  • Dystonia 1, torsion, autosomal dominant (DYT1) MIM:128100
  • Arthrogryposis multiplex congenita 5 (AMC5) MIM:618947

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 266 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.06
gnomAD pLI
0
gnomAD missense Z
0.54
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TOR1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TOR1A as an antibody target. Whether an autoantibody or antibody against TOR1A could matter depends on whether native TOR1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TOR1A is annotated at the cell surface, where native TOR1A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TOR1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TOR1A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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