TOR2A_MOUSE
ID TOR2A_MOUSE Reviewed; 321 AA.
AC Q8R1J9; Q3TBH0; Q3TC01; Q3V4D1; Q8R5B5;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Torsin-2A;
DE AltName: Full=Torsin family 2 member A;
DE Flags: Precursor;
GN Name=Tor2a;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J, and NOD; TISSUE=Skin;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=129, and FVB/N; TISSUE=Kidney, and Mammary tumor;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP DEVELOPMENTAL STAGE, AND INTERACTION WITH TOR1AIP1.
RX PubMed=16364897; DOI=10.1016/j.neuron.2005.11.010;
RA Goodchild R.E., Kim C.E., Dauer W.T.;
RT "Loss of the dystonia-associated protein torsinA selectively disrupts the
RT neuronal nuclear envelope.";
RL Neuron 48:923-932(2005).
RN [4]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT,
RP DEVELOPMENTAL STAGE, AND MUTAGENESIS OF GLU-162.
RX PubMed=20015956; DOI=10.1093/hmg/ddp557;
RA Jungwirth M., Dear M.L., Brown P., Holbrook K., Goodchild R.;
RT "Relative tissue expression of homologous torsinB correlates with the
RT neuronal specific importance of DYT1 dystonia-associated torsinA.";
RL Hum. Mol. Genet. 19:888-900(2010).
CC -!- SUBUNIT: Homohexamer. Interacts with TOR1AIP1.
CC {ECO:0000269|PubMed:16364897, ECO:0000269|PubMed:20015956}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum lumen
CC {ECO:0000269|PubMed:20015956}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8R1J9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8R1J9-2; Sequence=VSP_017705;
CC Name=3;
CC IsoId=P0C7W3-1; Sequence=External;
CC -!- TISSUE SPECIFICITY: Expressed at similar levels in liver, muscle and
CC brain (at protein level). {ECO:0000269|PubMed:20015956}.
CC -!- DEVELOPMENTAL STAGE: At 16 dpc, widely expressed in all tissues tested.
CC {ECO:0000269|PubMed:16364897, ECO:0000269|PubMed:20015956}.
CC -!- PTM: N-glycosylated. {ECO:0000269|PubMed:20015956}.
CC -!- SIMILARITY: Belongs to the ClpA/ClpB family. Torsin subfamily.
CC {ECO:0000305}.
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DR EMBL; AK003976; BAE43155.1; -; mRNA.
DR EMBL; AK162719; BAE37036.1; -; mRNA.
DR EMBL; AK170979; BAE42156.1; -; mRNA.
DR EMBL; AK171247; BAE42340.1; -; mRNA.
DR EMBL; BC023085; AAH23085.1; -; mRNA.
DR EMBL; BC024469; AAH24469.1; -; mRNA.
DR EMBL; BC003466; AAH03466.1; -; mRNA.
DR CCDS; CCDS15929.1; -. [Q8R1J9-1]
DR RefSeq; NP_690013.1; NM_152800.3. [Q8R1J9-1]
DR AlphaFoldDB; Q8R1J9; -.
DR SMR; Q8R1J9; -.
DR BioGRID; 206010; 2.
DR STRING; 10090.ENSMUSP00000009707; -.
DR GlyGen; Q8R1J9; 1 site.
DR PhosphoSitePlus; Q8R1J9; -.
DR EPD; Q8R1J9; -.
DR MaxQB; Q8R1J9; -.
DR PaxDb; Q8R1J9; -.
DR PeptideAtlas; Q8R1J9; -.
DR PRIDE; Q8R1J9; -.
DR ProteomicsDB; 259158; -. [Q8R1J9-1]
DR ProteomicsDB; 259159; -. [Q8R1J9-2]
DR Antibodypedia; 30786; 144 antibodies from 22 providers.
DR DNASU; 30933; -.
DR Ensembl; ENSMUST00000009707; ENSMUSP00000009707; ENSMUSG00000009563. [Q8R1J9-1]
DR GeneID; 30933; -.
DR KEGG; mmu:30933; -.
DR UCSC; uc008jgs.2; mouse. [Q8R1J9-2]
DR UCSC; uc008jgt.2; mouse. [Q8R1J9-1]
DR CTD; 27433; -.
DR MGI; MGI:1353596; Tor2a.
DR VEuPathDB; HostDB:ENSMUSG00000009563; -.
DR eggNOG; KOG2170; Eukaryota.
DR GeneTree; ENSGT00950000182888; -.
DR HOGENOM; CLU_053537_0_0_1; -.
DR InParanoid; Q8R1J9; -.
DR OMA; HQFSPIV; -.
DR PhylomeDB; Q8R1J9; -.
DR TreeFam; TF314941; -.
DR BioGRID-ORCS; 30933; 1 hit in 74 CRISPR screens.
DR ChiTaRS; Tor2a; mouse.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q8R1J9; protein.
DR Bgee; ENSMUSG00000009563; Expressed in lacrimal gland and 243 other tissues.
DR ExpressionAtlas; Q8R1J9; baseline and differential.
DR Genevisible; Q8R1J9; MM.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; IDA:MGI.
DR GO; GO:0005635; C:nuclear envelope; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR GO; GO:0051085; P:chaperone cofactor-dependent protein refolding; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR001270; ClpA/B.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR010448; Torsin.
DR InterPro; IPR017378; Torsin_1/2.
DR PANTHER; PTHR10760; PTHR10760; 1.
DR Pfam; PF06309; Torsin; 1.
DR PIRSF; PIRSF038079; Torsin_2A; 1.
DR PRINTS; PR00300; CLPPROTEASEA.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Endoplasmic reticulum; Glycoprotein;
KW Nucleotide-binding; Reference proteome; Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..321
FT /note="Torsin-2A"
FT /id="PRO_0000228830"
FT BINDING 93..100
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT CARBOHYD 149
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..162
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_017705"
FT MUTAGEN 162
FT /note="E->Q: Localizes in the nuclear envelope."
FT /evidence="ECO:0000269|PubMed:20015956"
SQ SEQUENCE 321 AA; 35897 MW; 5D8C8988DEB91813 CRC64;
MAVARHGYRP WGSILGLLGL ALAAAAAWDV ASLRCTFGSF CECDFWPDLP GLECDLAQHL
AGQHLAKALV VKSLKAFVQD PAPSKPLVLS LHGWTGTGKS YVSSLLAQHL FRDGLRSPHV
HHFSPIIHFP HPSRTEQYKK ELKSWVQGNL TACGRSLFLF DEMDKLPPGL MEVLQPFLGP
SWVVYGTNYR KAIFIFISNA GGEQINQVAL EAWRSHRDRE EISLQEVEPV ISRAVMDNPQ
HGFWRSGIME EHLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPSEEVVQA VLDSTTYFPE
VEQLFSSNGC KTVASRLTFF L
