InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: TOR1A

Summary

InnateDB Gene

IDBG-89274.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TOR1A

Gene Name

torsin family 1, member A (torsin A)

Synonyms

DQ2; DYT1

Species

Homo sapiens

Ensembl Gene

ENSG00000136827

Encoded Proteins

IDBP-89278

torsin family 1, member A (torsin A)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:129812944-129824134

Strand

Reverse strand

Band

q34.11

Transcripts

ENST00000351698	ENSP00000345719
ENST00000474192
ENST00000473604
ENST00000473084

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008092	cytoskeletal protein binding
GO:0016887	ATPase activity
GO:0019894	kinesin binding
GO:0051082	unfolded protein binding
GO:0051787	misfolded protein binding

Biological Process

GO:0000338	protein deneddylation
GO:0006200	ATP catabolic process
GO:0006979	response to oxidative stress
GO:0006996	organelle organization
GO:0006998	nuclear envelope organization
GO:0007155	cell adhesion
GO:0031175	neuron projection development
GO:0034504	protein localization to nucleus
GO:0044319	wound healing, spreading of cells
GO:0045104	intermediate filament cytoskeleton organization
GO:0048489	synaptic vesicle transport
GO:0051085	chaperone mediated protein folding requiring cofactor
GO:0051260	protein homooligomerization
GO:0051584	regulation of dopamine uptake involved in synaptic transmission
GO:0061077	chaperone-mediated protein folding
GO:0071712	ER-associated misfolded protein catabolic process
GO:0071763	nuclear membrane organization
GO:0072321	chaperone-mediated protein transport
GO:1900244	positive regulation of synaptic vesicle endocytosis
GO:2000008	regulation of protein localization to cell surface

Cellular Component

GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005788	endoplasmic reticulum lumen
GO:0005856	cytoskeleton
GO:0008021	synaptic vesicle
GO:0016020	membrane
GO:0030054	cell junction
GO:0030133	transport vesicle
GO:0030141	secretory granule
GO:0030426	growth cone
GO:0030659	cytoplasmic vesicle membrane
GO:0031965	nuclear membrane
GO:0042406	extrinsic component of endoplasmic reticulum membrane
GO:0043005	neuron projection
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026849

View Gene Order

ENSBTAG00000020305

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

alphasynuclein_pathway

Alpha-synuclein signaling

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.534312 Hs.708386

RefSeq

NM_000113

HUGO

OMIM

CCDS

CCDS6930

HPRD

06897

IMGT

EMBL

GenPept

RNA Seq Atlas