TOR3A - torsin family 3 member A Gene

Also Known as ADIR; ADIR2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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
Molecular Function GO Annotation Evidence 参考文献 由来
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
23569223 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
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

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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