Tor1a (torsin family 1, member A (torsin A)) - Rat Genome Database

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Gene: Tor1a (torsin family 1, member A (torsin A)) Mus musculus
Analyze
Symbol: Tor1a
Name: torsin family 1, member A (torsin A)
RGD ID: 1615931
MGI Page MGI
Description: Exhibits cytoskeletal protein binding activity; identical protein binding activity; and misfolded protein binding activity. Involved in several processes, including ER-associated misfolded protein catabolic process; nuclear membrane organization; and wound healing, spreading of cells. Localizes to endoplasmic reticulum lumen and nuclear envelope. Is expressed in several structures, including alimentary system; central nervous system; hemolymphoid system gland; liver; and urinary system. Used to study focal dystonia and torsion dystonia 1. Human ortholog(s) of this gene implicated in torsion dystonia 1. Orthologous to human TOR1A (torsin family 1 member A); INTERACTS WITH 1,2-dimethylhydrazine; 2,3',4,4',5-Pentachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DQ2; dystonia 1 protein; Dyt1; MGC18883; t; To; torsin ATPase 1; torsin family 1 member A; torsin-1A; torsinA
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,850,573 - 30,857,930 (-)NCBIGRCm39mm39
GRCm39 Ensembl230,850,639 - 30,857,945 (-)Ensembl
GRCm38230,960,561 - 30,967,918 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,960,627 - 30,967,933 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,816,081 - 30,823,438 (-)NCBIGRCm37mm9NCBIm37
MGSCv36230,782,636 - 30,789,900 (-)NCBImm8
Celera230,666,353 - 30,673,710 (-)NCBICelera
Cytogenetic Map2BNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal brain interneuron morphology  (IAGP)
abnormal brain morphology  (IAGP)
abnormal brain white matter morphology  (IAGP)
abnormal cell nucleus morphology  (IAGP)
abnormal cerebellum deep nucleus morphology  (IAGP)
abnormal cerebellum vermis morphology  (IAGP)
abnormal CNS synapse formation  (IAGP)
abnormal dorsal striatum morphology  (IAGP)
abnormal eating behavior  (IAGP)
abnormal facial nerve morphology  (IAGP)
abnormal gait  (IAGP)
abnormal involuntary movement  (IAGP)
abnormal limb posture  (IAGP)
abnormal locomotor behavior  (IAGP)
abnormal motor coordination/balance  (IAGP)
abnormal nervous system tract morphology  (IAGP)
abnormal neuron morphology  (IAGP)
abnormal neuron physiology  (IAGP)
abnormal pons morphology  (IAGP)
abnormal pontine nuclei morphology  (IAGP)
abnormal posture  (IAGP)
abnormal Purkinje cell dendrite morphology  (IAGP)
abnormal Purkinje cell innervation  (IAGP)
abnormal red nucleus morphology  (IAGP)
abnormal reflex  (IAGP)
abnormal response to new environment  (IAGP)
abnormal spinal cord morphology  (IAGP)
abnormal suckling behavior  (IAGP)
absent gastric milk in neonates  (IAGP)
absent red nucleus  (IAGP)
circling  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased brain size  (IAGP)
decreased dopamine level  (IAGP)
decreased grip strength  (IAGP)
decreased neuron number  (IAGP)
decreased vocalization  (IAGP)
delayed eyelid opening  (IAGP)
dystonia  (IAGP)
ectopic Purkinje cell  (IAGP)
enlarged cerebellum  (IAGP)
enlarged lateral ventricles  (IAGP)
gliosis  (IAGP)
hunched posture  (IAGP)
hyperactivity  (IAGP)
hypoactivity  (IAGP)
impaired balance  (IAGP)
impaired coordination  (IAGP)
increased eosinophil cell number  (IEA)
increased freezing behavior  (IAGP)
increased sensitivity to induced morbidity/mortality  (IAGP)
increased stereotypic behavior  (IAGP)
limb grasping  (IAGP)
narrow eye opening  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neurodegeneration  (IAGP)
neuron degeneration  (IAGP)
no abnormal phenotype detected  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
preweaning lethality, complete penetrance  (IEA)
preweaning lethality, incomplete penetrance  (IAGP)
reduced long term depression  (IAGP)
thin cerebral cortex  (IAGP)
tremors  (IAGP)
trunk curl  (IAGP)
weakness  (IAGP)
weight loss  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10644435   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11730696   PMID:12007841   PMID:12466851   PMID:12477932   PMID:14610273  
PMID:14729251   PMID:15489334   PMID:15767459   PMID:15930383   PMID:16141072   PMID:16141073   PMID:16242683   PMID:16364897   PMID:16458269   PMID:16602821   PMID:17046090   PMID:17200151  
PMID:17428918   PMID:17956903   PMID:18167355   PMID:18466338   PMID:18827015   PMID:19535332   PMID:19619587   PMID:19829161   PMID:20015956   PMID:20080676   PMID:20223934   PMID:20455020  
PMID:20457914   PMID:20584926   PMID:20627944   PMID:21464304   PMID:21479250   PMID:21627841   PMID:21677750   PMID:21873635   PMID:21931745   PMID:21995941   PMID:22213465   PMID:22391119  
PMID:22393392   PMID:22579992   PMID:22588999   PMID:22880064   PMID:22917612   PMID:23018676   PMID:23185535   PMID:23336980   PMID:23748075   PMID:23840813   PMID:23967309   PMID:24121114  
PMID:24260480   PMID:24503369   PMID:24937429   PMID:25447231   PMID:25451552   PMID:25799505   PMID:25818655   PMID:25860259   PMID:26052670   PMID:26092934   PMID:26183317   PMID:26370418  
PMID:26376866   PMID:26953341   PMID:27168150   PMID:27404940   PMID:27653693   PMID:27707963   PMID:27716431   PMID:27769743   PMID:28198698   PMID:28242745   PMID:28378742   PMID:28587876  
PMID:28673740   PMID:29045835   PMID:29186574   PMID:29289717   PMID:29396398   PMID:29504938   PMID:29868845   PMID:30117805   PMID:30403723   PMID:30552094   PMID:30819512   PMID:31408437  
PMID:31669362   PMID:31805123   PMID:31891745   PMID:32041188   PMID:32202496   PMID:32433955  


Genomics

Comparative Map Data
Tor1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,850,573 - 30,857,930 (-)NCBIGRCm39mm39
GRCm39 Ensembl230,850,639 - 30,857,945 (-)Ensembl
GRCm38230,960,561 - 30,967,918 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,960,627 - 30,967,933 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,816,081 - 30,823,438 (-)NCBIGRCm37mm9NCBIm37
MGSCv36230,782,636 - 30,789,900 (-)NCBImm8
Celera230,666,353 - 30,673,710 (-)NCBICelera
Cytogenetic Map2BNCBI
TOR1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9129,812,942 - 129,824,244 (-)EnsemblGRCh38hg38GRCh38
GRCh389129,812,942 - 129,824,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379132,575,221 - 132,586,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369131,615,042 - 131,626,262 (-)NCBINCBI36hg18NCBI36
Build 349129,654,775 - 129,665,995NCBI
Celera9103,226,256 - 103,237,469 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9102,174,061 - 102,185,267 (-)NCBIHuRef
CHM1_19132,724,350 - 132,735,481 (-)NCBICHM1_1
Tor1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2314,250,667 - 14,257,704 (-)NCBI
Rnor_6.0 Ensembl39,800,322 - 9,807,328 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.039,800,322 - 9,807,318 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0315,158,994 - 15,165,990 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4310,026,129 - 10,033,125 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.139,921,497 - 9,928,493 (-)NCBI
Celera39,009,184 - 9,016,180 (-)NCBICelera
Cytogenetic Map3p12NCBI
Tor1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495551330,655 - 36,360 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495551330,655 - 36,299 (-)NCBIChiLan1.0ChiLan1.0
TOR1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19129,607,415 - 129,609,026 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v09100,940,554 - 100,951,726 (-)NCBIMhudiblu_PPA_v0panPan3
TOR1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,017,895 - 54,027,049 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,017,952 - 54,026,680 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,214,766 - 53,223,920 (+)NCBI
ROS_Cfam_1.0954,915,201 - 54,922,578 (+)NCBI
UMICH_Zoey_3.1953,692,450 - 53,701,608 (+)NCBI
UNSW_CanFamBas_1.0954,014,547 - 54,021,928 (+)NCBI
UU_Cfam_GSD_1.0954,107,684 - 54,115,290 (+)NCBI
Tor1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947197,244,134 - 197,252,139 (-)NCBI
SpeTri2.0NW_00493648717,012,661 - 17,020,657 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOR1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,974,892 - 269,985,508 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,975,919 - 269,985,478 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,873,219 - 303,882,784 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TOR1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1128,312,652 - 8,323,932 (+)NCBI
ChlSab1.1 Ensembl128,312,650 - 8,322,907 (+)Ensembl
Vero_WHO_p1.0NW_0236660797,116,639 - 7,128,036 (-)NCBI
Tor1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247605,602,011 - 5,606,784 (+)NCBI

Position Markers
Tor1a  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38230,960,664 - 30,961,014UniSTSGRCm38
MGSCv37230,816,184 - 30,816,534UniSTSGRCm37
Celera230,666,456 - 30,666,806UniSTS
Cytogenetic Map2BUniSTS
cM Map2 UniSTS


QTLs in Region (GRCm38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301769Orgwq2_morgan weight QTL 2 (mouse)Not determined2388608993591306Mouse
1301980Fcsa5_mfemoral cross-sectional area 5 (mouse)Not determined2778910341789249Mouse
1301790Pcfm1_mperiosteal circumference and femur length 1 (mouse)Not determined2834628442346384Mouse
10043876Adip22_madiposity 22 (mouse)Not determined2841803942418228Mouse
1300624Insq7_minsulin QTL 7 (mouse)Not determined2949443443494563Mouse
10755513Amzn4_manatomical modifier of Zfp423 4 (mouse)2949443443494563Mouse
8552707Cia23_mcollagen induced arthritis QTL 23 (mouse)Not determined21212472666726109Mouse
1301641Sbmd2_mspinal bone mineral density 2 (mouse)Not determined21432455548324701Mouse
1357454Kidq1_mkidney weight QTL 1 (mouse)Not determined220892967119064359Mouse
1357436Splq1_mspleen weight QTL 1 (mouse)Not determined220892967119064359Mouse
1357829Lvrq1_mliver weight QTL 1 (mouse)Not determined220892967119064359Mouse
1558899Egq1_mearly growth QTL 1 (mouse)Not determined220892967119064359Mouse
1558738W6q1_mweight 6 weeks QTL 1 (mouse)Not determined220892967119064359Mouse
1558966W10q9_mweight 10 weeks QTL 9 (mouse)Not determined220892967119064359Mouse
1558915W3q1_mweight 3 weeks QTL 1 (mouse)Not determined220892967119064359Mouse
1357681Hrtq1_mheart weight QTL 1 (mouse)Not determined220892967119064359Mouse
1357881Estoq1_membryo survival total QTL 1 (mouse)Not determined220892967119064359Mouse
39128209Lwq14_mliver weight QTL 14 (mouse)220892967119064359Mouse
4141708Pbwg1.2_mpostnatal body weight growth 1.2 (mouse)Not determined2123971355239859Mouse
1301376Etohc1_methanol consumption 1 (mouse)Not determined22123971355239859Mouse
13463470Tubisq1_mtubulointerstitial injury severity, QTL 1 (mouse)22379913357799257Mouse
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224334620148858457Mouse
26884438Sklq12_mskull length QTL 12, 16 week (mouse)22470000055000000Mouse
8552705Cia25_mcollagen induced arthritis 25 (mouse)Not determined22478910333633160Mouse
8552706Cia24_mcollagen induced arthritis QTL 24 (mouse)Not determined22478910333633160Mouse
4142130Pgis2_mproteoglycan induced spondylitis 2 (mouse)Not determined22541803957081799Mouse
12904005Cfq2_mconditioned fear QTL 2 (mouse)22713263056506216Mouse
1300577Capsq1_mcapsaicin sensitivity related QTL 1 (mouse)Not determined22771204884183040Mouse
14746979Manh51_mmandible shape 51 (mouse)22907111763071117Mouse
14746997Mancz2_mmandible centroid size 2 (mouse)22907111763071117Mouse
4141854T2dm2sa_mtype 2 diabetes mellitus 2 in SMXA RI mice (mouse)Not determined229417935148533014Mouse

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:790
Count of miRNA genes:415
Interacting mature miRNAs:478
Transcripts:ENSMUST00000028200, ENSMUST00000123762, ENSMUST00000137694, ENSMUST00000143199, ENSMUST00000144152
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000028200   ⟹   ENSMUSP00000028200
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl230,960,627 - 30,967,933 (-)Ensembl
RefSeq Acc Id: ENSMUST00000123762
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl230,961,053 - 30,963,875 (-)Ensembl
RefSeq Acc Id: ENSMUST00000137694
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl230,960,680 - 30,967,872 (-)Ensembl
RefSeq Acc Id: ENSMUST00000143199
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl230,966,911 - 30,967,888 (-)Ensembl
RefSeq Acc Id: ENSMUST00000144152
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 Ensembl230,961,012 - 30,963,848 (-)Ensembl
RefSeq Acc Id: NM_144884   ⟹   NP_659133
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39230,850,573 - 30,857,930 (-)NCBI
GRCm38230,960,561 - 30,967,918 (-)ENTREZGENE
MGSCv37230,816,081 - 30,823,438 (-)RGD
Celera230,666,353 - 30,673,710 (-)RGD
cM Map2 ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_659133   ⟸   NM_144884
- Peptide Label: precursor
- UniProtKB: Q9ER39 (UniProtKB/Swiss-Prot),   Q3TV62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000028200   ⟸   ENSMUST00000028200

Promoters
RGD ID:6847728
Promoter ID:MM_ACW:27943
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   Kidney,   Liver,   MEF_B6,   Spleen
Transcripts:KUTERIRA.ASEP07-UNSPLICED,   TOR1A.FSEP07-UNSPLICED
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36230,813,741 - 30,814,437 (-)MPROMDB
RGD ID:6832965
Promoter ID:MM_KWN:28575
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Kidney,   Liver
Transcripts:OTTMUST00000027953,   OTTMUST00000027954
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36230,819,586 - 30,820,092 (-)MPROMDB
RGD ID:6832967
Promoter ID:MM_KWN:28576
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000027950,   OTTMUST00000027951,   OTTMUST00000027952
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36230,823,069 - 30,823,569 (-)MPROMDB
RGD ID:6876926
Promoter ID:EPDNEW_M1914
Type:initiation region
Name:Tor1a_1
Description:Mus musculus torsin family 1, member A , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38230,967,904 - 30,967,964EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1353568 AgrOrtholog
Ensembl Genes ENSMUSG00000026849 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSMUSP00000028200 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000028200 ENTREZGENE, UniProtKB/Swiss-Prot
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Torsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Torsin-1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Torsin_1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:30931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1353568 ENTREZGENE
NCBI Gene 30931 ENTREZGENE
PANTHER PTHR10760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10760:SF15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Torsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Tor1a PhenoGen
PIRSF Torsin_2A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q3TV62 ENTREZGENE, UniProtKB/TrEMBL
  Q9ER39 ENTREZGENE, UniProtKB/Swiss-Prot