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Aliases for TOR3A Gene

Aliases for TOR3A Gene

  • Torsin Family 3 Member A 2 3 4 5
  • ATP-Dependent Interferon-Responsive Protein 3 4
  • ATP-Dependant Interferon Responsive 2 3
  • ADIR 3 4
  • ATP-Dependant Interferon Response Protein 1 3
  • Torsin Family 3, Member A 2
  • Torsin-3A 3
  • ADIR2 3

External Ids for TOR3A Gene

Previous HGNC Symbols for TOR3A Gene

  • ADIR

Previous GeneCards Identifiers for TOR3A Gene

  • GC00U990670
  • GC01P174479
  • GC01U900786
  • GC01P176290
  • GC01P175782
  • GC01P177317
  • GC01P150279

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 Apperceptive Agnosia and Visual Agnosia. GO annotations related to this gene include ATPase activity. An important paralog of this gene is TOR1A.

No data available for Entrez Gene Summary , CIViC 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

Regulatory Elements for TOR3A Gene

Enhancers for TOR3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G179139 1.5 FANTOM5 ENCODE dbSUPER 29 +61.2 61224 5.6 TBP SIN3A RAD21 RFX5 EGR1 FOS DEK EGR2 NFYA USF2 TOR3A ABL2 AXDND1 SOAT1 ENSG00000234041 SETP10
GH01G179023 1.7 FANTOM5 ENCODE dbSUPER 24.6 -55.5 -55484 3.9 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TOR3A FAM20B AXDND1 RALGPS2 GC01M179035
GH01G179292 1.1 ENCODE 26.1 +213.3 213306 3.4 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TOR3A AXDND1 SOAT1 TDRD5 GC01P179293 LOC100420262
GH01G179090 1.3 ENCODE dbSUPER 19.8 +10.1 10056 2.4 FOXA2 PKNOX1 ARNT ARID4B DMAP1 YY1 ZNF766 PAF1 ZNF592 KAT8 TOR3A LOC126860 TDRD5 AXDND1 ABL2 GC01M179080 PIR61676 GC01M179101
GH01G179126 1.4 Ensembl ENCODE dbSUPER 18 +47.2 47198 4.8 HDGF PKNOX1 YY1 GTF3C2 GATA2 ZNF207 FOS TBX21 ZNF592 CREB3 TOR3A ENSG00000212338 ENSG00000201619 EIF4A1P11 AXDND1 ENSG00000234041 PIR61676 GC01M179101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOR3A on UCSC Golden Path with GeneCards custom track

Promoters for TOR3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016423 923 1801 PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for TOR3A Gene

Chromosome:
1
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

Genes around TOR3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TOR3A Gene

Other Protein References for TOR3A Gene

No data available for DME Specific Peptides for TOR3A Gene

Domains & Families for TOR3A Gene

Gene Families for TOR3A Gene

Protein Domains for TOR3A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TOR3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H497

UniProtKB/Swiss-Prot:

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

Function for TOR3A Gene

Gene Ontology (GO) - Molecular Function for TOR3A Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOR3A gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 11863361
GO:0005788 endoplasmic reticulum lumen IDA,IEA 11863361
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with TOR3A: view

Pathways & Interactions for TOR3A Gene

SuperPathways for TOR3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOR3A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TOR3A Gene

Drugs & Compounds for TOR3A Gene

No Compound Related Data Available

Transcripts for TOR3A Gene

Unigene Clusters for TOR3A Gene

Torsin family 3, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TOR3A Gene

Protein differential expression in normal tissues from HIPED for TOR3A Gene

This gene is overexpressed in Serum (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOR3A Gene



NURSA nuclear receptor signaling pathways regulating expression of TOR3A Gene:

TOR3A

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.

Evidence on tissue expression from TISSUES for TOR3A Gene

  • Pancreas(4.3)
  • Kidney(4.2)
  • Muscle(4.2)
  • Stomach(4.2)
  • Eye(4)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with TOR3A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR3A Gene

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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia TOR3A 34 35
  • 82.19 (n)
cow
(Bos Taurus)
Mammalia TOR3A 34 35
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Tor3a 34 16 35
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Tor3a 34
  • 76.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TOR3A 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR3A 34 35
  • 67.73 (n)
lizard
(Anolis carolinensis)
Reptilia TOR3A 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tor3a 34
  • 54.26 (n)
zebrafish
(Danio rerio)
Actinopterygii tor3a 34 35
  • 60.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta Torsin 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tor-1 35
  • 29 (a)
ManyToMany
ooc-5 35
  • 27 (a)
ManyToMany
tor-2 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 35
  • 35 (a)
OneToMany
Species where no ortholog for TOR3A was found in the sources mined by GeneCards:
  • 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

(3) 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
rs1000138208 -- 179,083,257(+) AGCCC(A/G)GGCAA intron-variant
rs1000199195 -- 179,084,969(+) ATAAA(A/G)CAGGG intron-variant
rs1000229152 -- 179,089,149(+) AGTGG(C/T)CTGTC intron-variant
rs1000299036 -- 179,083,595(+) GGGGG(C/G)GGGGC intron-variant
rs1000479552 -- 179,083,652(+) GATTT(C/G)CCTGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2658665 CNV deletion 23128226
esv3588046 CNV loss 21293372
nsv3721 CNV insertion 18451855

Variation tolerance for TOR3A Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOR3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR3A Gene

Disorders for TOR3A Gene

MalaCards: The human disease database

(6) MalaCards diseases for TOR3A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
apperceptive agnosia
visual agnosia
  • primary visual agnosia
pervasive developmental disorder
  • pervasive development disorder
speech and communication disorders
  • communication disorder
chromosome 15q13.3 microdeletion syndrome
  • chromosome 15q13.3 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TOR3A in MalaCards View complete list of genes associated with diseases

Relevant External Links for TOR3A

Genetic Association Database (GAD)
TOR3A
Human Genome Epidemiology (HuGE) Navigator
TOR3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOR3A
genes like me logo Genes that share disorders with TOR3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. (PMID: 20015956) Jungwirth M. … Goodchild R. (Hum. Mol. Genet. 2010) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TOR3A Gene

Sources for TOR3A Gene

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