TOR3A - torsin family 3 member A Gene

Also Known as ADIR; ADIR2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64222

About TOR3A

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,082,070-179,095,996 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues and 4 paralogues. Ubiquitous expression in lymph node (RPKM 22.6), appendix (RPKM 17.5) and 25 other tissues.

Summary

Predicted to enable ATP binding activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]

TOR3A Products (1)

mRNA Protein Name
NM_022371.4 NP_071766.2 torsin-3A precursor

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
23569223 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
11863361 GOA
located in endoplasmic reticulum lumen IDA
IDA: Inferred from direct assay
11863361 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOR3A Protein Structure

Torsin

Torsin: Torsin (106 - 234)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
Protein Preferred Names Protein Names

torsin-3A

  • ATP-dependant interferon response protein 1

Related Diseases

Diseases Alias
Alzheimer Disease 10

  • Ad10

  • Alzheimer Disease-10

  • Alzheimer'S Disease 10

  • Alzheimer Disease, Familial, 10

  • Alzheimer Disease Familial 10

  • Alzheimer'S Disease 10, Early Onset
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Separation Anxiety Disorder

  • Separation Anxiety Disorder Of Childhood
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14906 TOR3A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris TOR3A VGNC VGNC:53804
Mus musculus TOR3A MGD MGI:1353652
Macaca mulatta TOR3A VGNC VGNC:78626
Rattus norvegicus TOR3A RGD RGD:1310101
Felis catus TOR3A VGNC VGNC:66457
Bos taurus TOR3A VGNC VGNC:36226
Others TOR3A NCBI