TOR1A (torsin family 1 member A)

2016-10-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
AMC5,DQ2,DYT1
FUSION GENES

Other Information

Locus ID:

NCBI: 1861
MIM: 605204
HGNC: 3098
Ensembl: ENSG00000136827

Variants:

dbSNP: 1861
ClinVar: 1861
TCGA: ENSG00000136827
COSMIC: TOR1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136827ENST00000351698O14656
ENSG00000136827ENST00000651202A0A494BZT7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437

References

Pubmed IDYearTitleCitations
147119882004Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.109
157674592005The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.90
188270152008TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.87
155052072004Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.81
174289182007Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.67
169349852006Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.66
128385252003Impaired sequence learning in carriers of the DYT1 dystonia mutation.65
176017412007Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.61
175504292007Dopamine release is impaired in a mouse model of DYT1 dystonia.58
193392782009LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.56

Citation

Dessen P

TOR1A (torsin family 1 member A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56306/tor1a