TOR1A

Gene Information

Official Symbol: TOR1A
Official Name: torsin family 1 member A
Aliases and Previous Symbols: N/A
Entrez ID: 1861
UniProt: O14656
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt Summary: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non- neural tissues. {ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:16361107, ECO:0000269|PubMed:17428918, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:18827015, ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:20169475, ECO:0000269|PubMed:23569223}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 12454
Expression level (log2 read counts): 5.93

Expression Distribution

Screen	Score
Cryptotanshinone 12μM R05 exp227	-1.8
Vincristine 0.0005μM R04 exp190	1.71

positive regulation of synaptic vesicle endocytosis
extrinsic component of endoplasmic reticulum membrane
nuclear membrane organization
regulation of dopamine uptake involved in synaptic transmission
regulation of catecholamine uptake involved in synaptic transmission
positive regulation of synaptic vesicle recycling
protein deneddylation
chaperone-mediated protein transport
ER-associated misfolded protein catabolic process
regulation of synaptic vesicle endocytosis
regulation of synaptic transmission, dopaminergic
regulation of neurotransmitter uptake
cellular response to misfolded protein
regulation of synaptic vesicle recycling
wound healing, spreading of cells
epiboly involved in wound healing
response to misfolded protein
epiboly
misfolded protein binding
protein quality control for misfolded or incompletely synthesized proteins
chaperone cofactor-dependent protein refolding
synaptic vesicle transport
de novo posttranslational protein folding
regulation of protein localization to cell surface
synaptic vesicle localization
de novo protein folding
kinesin binding
intermediate filament cytoskeleton organization
morphogenesis of an epithelial sheet
intermediate filament-based process
nuclear envelope organization
chaperone-mediated protein folding
cytoskeletal protein binding
secretory granule
ERAD pathway
regulation of amine transport
regulation of response to drug
positive regulation of endocytosis
regulation of synaptic vesicle cycle
synaptic vesicle