Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TOR3A Gene

Aliases for TOR3A Gene

  • Torsin Family 3, Member A 2 3
  • ADIR 3 4 6
  • ATP-Dependent Interferon-Responsive Protein 3 4
  • ATP-Dependant Interferon Responsive 2 3
  • ATP-Dependant Interferon Response Protein 1 3
  • Torsin Family 3 Member A 4
  • Torsin-3A 3
  • ADIR2 3

External Ids for TOR3A Gene

Previous Symbols for TOR3A Gene

  • ADIR

Summaries for TOR3A Gene

GeneCards Summary for TOR3A Gene

TOR3A (Torsin Family 3, Member A) is a Protein Coding gene. Diseases associated with TOR3A include torsion dystonia. An important paralog of this gene is TOR2A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR3A Gene

Genomics for TOR3A Gene

Genomic Location for TOR3A Gene

Start:
179,081,377 bp from pter
End:
179,098,023 bp from pter
Size:
16,647 bases
Orientation:
Plus strand

Genomic View for TOR3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOR3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR3A Gene

Regulatory Elements for TOR3A Gene

Proteins for TOR3A Gene

  • Protein details for TOR3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H497-TOR3A_HUMAN
    Recommended name:
    Torsin-3A
    Protein Accession:
    Q9H497
    Secondary Accessions:
    • B4DSY0
    • B7ZB65
    • Q5M7Y7
    • Q8WVA7
    • Q8WWM2
    • Q9H495
    • Q9H6E7

    Protein attributes for TOR3A Gene

    Size:
    397 amino acids
    Molecular mass:
    46199 Da
    Quaternary structure:
    • May not form homohexamers.

    Alternative splice isoforms for TOR3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR3A Gene

Proteomics data for TOR3A Gene at MOPED

Post-translational modifications for TOR3A Gene

Other Protein References for TOR3A Gene

No data available for DME Specific Peptides for TOR3A Gene

Domains for TOR3A Gene

Protein Domains for TOR3A Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TOR3A_HUMAN
Family:
  • Belongs to the ClpA/ClpB family. Torsin subfamily.:
    • Q9H497
genes like me logo Genes that share domains with TOR3A: view

No data available for Gene Families for TOR3A Gene

Function for TOR3A Gene

Gene Ontology (GO) - Molecular Function for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IDA 23569223
genes like me logo Genes that share ontologies with TOR3A: view

Phenotypes for TOR3A Gene

genes like me logo Genes that share phenotypes with TOR3A: view

miRNA for TOR3A Gene

miRTarBase miRNAs that target TOR3A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TOR3A Gene

Localization for TOR3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR3A Gene

Cytoplasm. Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TOR3A Gene COMPARTMENTS Subcellular localization image for TOR3A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 11863361
GO:0005788 endoplasmic reticulum lumen IDA 11863361
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with TOR3A: view

Pathways for TOR3A Gene

SuperPathways for TOR3A Gene

No Data Available

Interacting Proteins for TOR3A Gene

Gene Ontology (GO) - Biological Process for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0008152 metabolic process IDA 23569223
GO:0051085 chaperone mediated protein folding requiring cofactor --
genes like me logo Genes that share ontologies with TOR3A: view

No data available for Pathways by source for TOR3A Gene

Transcripts for TOR3A Gene

Unigene Clusters for TOR3A Gene

Torsin family 3, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TOR3A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - -
SP8: - -
SP9:
SP10: - -

Relevant External Links for TOR3A Gene

GeneLoc Exon Structure for
TOR3A
ECgene alternative splicing isoforms for
TOR3A

Expression for TOR3A Gene

mRNA expression in normal human tissues for TOR3A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOR3A Gene

SOURCE GeneReport for Unigene cluster for TOR3A Gene Hs.584957

mRNA Expression by UniProt/SwissProt for TOR3A Gene

Q9H497-TOR3A_HUMAN
Tissue specificity: Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta.
genes like me logo Genes that share expressions with TOR3A: view

Orthologs for TOR3A Gene

This gene was present in the common ancestor of animals.

Orthologs for TOR3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOR3A 36
  • 99.58 (n)
  • 98.99 (a)
TOR3A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TOR3A 36
  • 82.17 (n)
  • 76.08 (a)
TOR3A 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOR3A 36
  • 82.19 (n)
  • 76.99 (a)
TOR3A 37
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tor3a 36
  • 78.33 (n)
  • 71.94 (a)
Tor3a 16
Tor3a 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR3A 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 61 (a)
OneToMany
-- 37
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tor3a 36
  • 76.89 (n)
  • 72 (a)
chicken
(Gallus gallus)
Aves TOR3A 36
  • 67.73 (n)
  • 59.73 (a)
TOR3A 37
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR3A 37
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tor3a 36
  • 54.26 (n)
  • 45 (a)
zebrafish
(Danio rerio)
Actinopterygii tor3a 36
  • 60.76 (n)
  • 53.49 (a)
tor3a 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Torsin 37
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ooc-5 37
  • 27 (a)
ManyToMany
tor-1 37
  • 29 (a)
ManyToMany
tor-2 37
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 37
  • 35 (a)
OneToMany
Species with no ortholog for TOR3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TOR3A Gene

ENSEMBL:
Gene Tree for TOR3A (if available)
TreeFam:
Gene Tree for TOR3A (if available)

Paralogs for TOR3A Gene

Paralogs for TOR3A Gene

Selected SIMAP similar genes for TOR3A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TOR3A Gene

genes like me logo Genes that share paralogs with TOR3A: view

Variants for TOR3A Gene

Sequence variations from dbSNP and Humsavar for TOR3A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs875863 -- 179,093,150(+) TGGGC(C/T)GTGGA intron-variant
rs877763 -- 179,090,981(+) AGCCC(C/T)CAGTG intron-variant
rs912758 -- 179,085,557(+) TTTCT(G/T)GGCTG intron-variant
rs1046385 -- 179,095,740(+) TTTGC(A/G)GGCTG utr-variant-3-prime
rs1128952 -- 179,095,990(+) ATTTT(C/T)CTAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TOR3A Gene

Variant ID Type Subtype PubMed ID
nsv3721 CNV Insertion 18451855
esv2658665 CNV Deletion 23128226

Relevant External Links for TOR3A Gene

HapMap Linkage Disequilibrium report
TOR3A

Disorders for TOR3A Gene

(1) MalaCards Diseases for TOR3A Gene

Search for TOR3A Gene in MalaCards »

Relevant External Links for TOR3A

Genetic Association Database (GAD)
TOR3A
Human Genome Epidemiology (HuGE) Navigator
TOR3A
genes like me logo Genes that share disorders with TOR3A: view

No data available for UniProtKB/Swiss-Prot for TOR3A Gene

Publications for TOR3A Gene

  1. Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. (PMID: 11863361) Dron M. … Tovey M.G. (Genomics 2002) 3 4 23
  2. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PMID: 10644435) Ozelius L.J. … Breakefield X.O. (Genomics 1999) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for TOR3A Gene

Sources for TOR3A Gene

Back to Top

Content