ID   TOR2A_HUMAN             Reviewed;         321 AA.
AC   Q5JU69; A4FU12; A4FU13; Q3ZCN9; Q3ZCP0; Q5JU68; Q66K87; Q6UXW6; Q8NAN5;
AC   Q96SL7;
DT   21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT   15-FEB-2005, sequence version 1.
DT   27-MAR-2024, entry version 157.
DE   RecName: Full=Torsin-2A;
DE   AltName: Full=Torsin family 2 member A;
DE   AltName: Full=Torsin-related protein 1;
DE   Flags: Precursor;
GN   Name=TOR2A; Synonyms=TORP1; ORFNames=UNQ6408/PRO21181;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-203.
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Peripheral blood monocyte, and Placenta;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC   TISSUE=B-cell;
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   [5]
RP   TISSUE SPECIFICITY.
RX   PubMed=12910263; DOI=10.1038/nm913;
RA   Shichiri M., Ishimaru S., Ota T., Nishikawa T., Isogai T., Hirata Y.;
RT   "Salusins: newly identified bioactive peptides with hemodynamic and
RT   mitogenic activities.";
RL   Nat. Med. 9:1166-1172(2003).
CC   -!- SUBUNIT: Homohexamer. Interacts with TOR1AIP1 (By similarity).
CC       {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q5JU69-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5JU69-2; Sequence=VSP_017703, VSP_017704;
CC       Name=3;
CC         IsoId=Q5JU69-5; Sequence=VSP_035631, VSP_035632;
CC       Name=4;
CC         IsoId=Q8N2E6-1; Sequence=External;
CC   -!- TISSUE SPECIFICITY: Isoform 1 is expressed ubiquitously, except in
CC       cardiac and endothelial tissues. {ECO:0000269|PubMed:12910263}.
CC   -!- SIMILARITY: Belongs to the ClpA/ClpB family. Torsin subfamily.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH80527.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC       Sequence=AAI00908.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC       Sequence=AAI00909.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC       Sequence=AAI00910.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC       Sequence=AAI00911.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR   EMBL; AY358180; AAQ88547.1; -; mRNA.
DR   EMBL; AK027677; BAB55288.1; -; mRNA.
DR   EMBL; AL162426; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC100907; AAI00908.2; ALT_SEQ; mRNA.
DR   EMBL; BC100908; AAI00909.2; ALT_SEQ; mRNA.
DR   EMBL; BC100909; AAI00910.2; ALT_SEQ; mRNA.
DR   EMBL; BC100910; AAI00911.2; ALT_SEQ; mRNA.
DR   EMBL; BC080527; AAH80527.2; ALT_SEQ; mRNA.
DR   CCDS; CCDS43879.1; -. [Q5JU69-1]
DR   CCDS; CCDS48025.1; -. [Q5JU69-5]
DR   CCDS; CCDS6876.1; -. [Q5JU69-2]
DR   RefSeq; NP_001078816.1; NM_001085347.2. [Q5JU69-1]
DR   RefSeq; NP_001127902.1; NM_001134430.2.
DR   RefSeq; NP_001127903.1; NM_001134431.2. [Q5JU69-5]
DR   RefSeq; NP_001238947.1; NM_001252018.1.
DR   RefSeq; NP_001238950.1; NM_001252021.1.
DR   RefSeq; NP_001238952.1; NM_001252023.1.
DR   RefSeq; NP_569726.2; NM_130459.3. [Q5JU69-2]
DR   AlphaFoldDB; Q5JU69; -.
DR   SMR; Q5JU69; -.
DR   BioGRID; 118167; 34.
DR   DIP; DIP-59332N; -.
DR   IntAct; Q5JU69; 3.
DR   STRING; 9606.ENSP00000362381; -.
DR   GlyConnect; 1825; 2 N-Linked glycans (1 site).
DR   GlyCosmos; Q5JU69; 1 site, 2 glycans.
DR   GlyGen; Q5JU69; 1 site, 2 N-linked glycans (1 site).
DR   iPTMnet; Q5JU69; -.
DR   PhosphoSitePlus; Q5JU69; -.
DR   SwissPalm; Q5JU69; -.
DR   BioMuta; TOR2A; -.
DR   DMDM; 74742272; -.
DR   EPD; Q5JU69; -.
DR   jPOST; Q5JU69; -.
DR   MassIVE; Q5JU69; -.
DR   MaxQB; Q5JU69; -.
DR   PaxDb; 9606-ENSP00000362381; -.
DR   PeptideAtlas; Q5JU69; -.
DR   ProteomicsDB; 63257; -. [Q5JU69-1]
DR   ProteomicsDB; 63258; -. [Q5JU69-2]
DR   Pumba; Q5JU69; -.
DR   Antibodypedia; 30786; 173 antibodies from 23 providers.
DR   DNASU; 27433; -.
DR   Ensembl; ENST00000373281.8; ENSP00000362378.5; ENSG00000160404.18. [Q5JU69-2]
DR   Ensembl; ENST00000373284.10; ENSP00000362381.5; ENSG00000160404.18. [Q5JU69-1]
DR   Ensembl; ENST00000463256.5; ENSP00000485648.1; ENSG00000160404.18. [Q5JU69-5]
DR   Ensembl; ENST00000463577.2; ENSP00000485268.1; ENSG00000160404.18. [Q5JU69-5]
DR   Ensembl; ENST00000493439.1; ENSP00000485360.1; ENSG00000160404.18. [Q5JU69-5]
DR   Ensembl; ENST00000496460.5; ENSP00000485544.1; ENSG00000160404.18. [Q5JU69-5]
DR   GeneID; 27433; -.
DR   KEGG; hsa:27433; -.
DR   MANE-Select; ENST00000373284.10; ENSP00000362381.5; NM_001085347.3; NP_001078816.2.
DR   UCSC; uc004brs.5; human. [Q5JU69-1]
DR   AGR; HGNC:11996; -.
DR   CTD; 27433; -.
DR   DisGeNET; 27433; -.
DR   GeneCards; TOR2A; -.
DR   HGNC; HGNC:11996; TOR2A.
DR   HPA; ENSG00000160404; Low tissue specificity.
DR   MIM; 608052; gene.
DR   neXtProt; NX_Q5JU69; -.
DR   OpenTargets; ENSG00000160404; -.
DR   PharmGKB; PA36677; -.
DR   VEuPathDB; HostDB:ENSG00000160404; -.
DR   eggNOG; KOG2170; Eukaryota.
DR   GeneTree; ENSGT00950000182888; -.
DR   HOGENOM; CLU_053537_0_0_1; -.
DR   InParanoid; Q5JU69; -.
DR   OMA; CECDFKP; -.
DR   OrthoDB; 5087at2759; -.
DR   PhylomeDB; Q5JU69; -.
DR   TreeFam; TF314941; -.
DR   PathwayCommons; Q5JU69; -.
DR   SignaLink; Q5JU69; -.
DR   BioGRID-ORCS; 27433; 168 hits in 1166 CRISPR screens.
DR   ChiTaRS; TOR2A; human.
DR   GeneWiki; TOR2A; -.
DR   GenomeRNAi; 27433; -.
DR   Pharos; Q5JU69; Tbio.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5JU69; Protein.
DR   Bgee; ENSG00000160404; Expressed in oocyte and 110 other cell types or tissues.
DR   ExpressionAtlas; Q5JU69; baseline and differential.
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; P-loop containing nucleotide triphosphate hydrolases; 1.
DR   InterPro; IPR003593; AAA+_ATPase.
DR   InterPro; IPR001270; ClpA/B.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR049337; TOR1A_C.
DR   InterPro; IPR010448; Torsin.
DR   InterPro; IPR017378; Torsin_1/2.
DR   PANTHER; PTHR10760; TORSIN; 1.
DR   PANTHER; PTHR10760:SF4; TORSIN-2A; 1.
DR   Pfam; PF21376; TOR1A_C; 1.
DR   Pfam; PF06309; Torsin; 1.
DR   PIRSF; PIRSF038079; Torsin_2A; 1.
DR   PRINTS; PR00300; CLPPROTEASEA.
DR   SMART; SM00382; AAA; 1.
DR   SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 1.
DR   Genevisible; Q5JU69; HS.
PE   2: Evidence at transcript 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_0000228829"
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         51..72
FT                   /note="GLECDLAQHLAGQHLAKALVVK -> EGSEELGPREPHCLWPLPLPLR (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_035631"
FT   VAR_SEQ         73..321
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_035632"
FT   VAR_SEQ         198..253
FT                   /note="SNTGGKQINQVALEAWRSRRDREEILLQELEPVISRAVLDNPHHGFSNSGIM
FT                   EERL -> RWGPALQWAQWGGHFSEVQLYSLSLCSQQNPVPHGLSWAFPVPSATLRDDI
FT                   VIPPG (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_017703"
FT   VAR_SEQ         254..321
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_017704"
FT   VARIANT         203
FT                   /note="K -> E (in dbSNP:rs538066)"
FT                   /evidence="ECO:0000269|PubMed:12975309"
FT                   /id="VAR_055661"
FT   CONFLICT        Q5JU69-2:208
FT                   /note="W -> C (in Ref. 2; BAB55288)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   321 AA;  35714 MW;  93F4DACF3CA0EA02 CRC64;
     MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP GLECDLAQHL
     AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS YVSSLLAHYL FQGGLRSPRV
     HHFSPVLHFP HPSHIERYKK DLKSWVQGNL TACGRSLFLF DEMDKMPPGL MEVLRPFLGS
     SWVVYGTNYR KAIFIFISNT GGKQINQVAL EAWRSRRDRE EILLQELEPV ISRAVLDNPH
     HGFSNSGIME ERLLDAVVPF LPLQRHHVRH CVLNELAQLG LEPRDEVVQA VLDSTTFFPE
     DEQLFSSNGC KTVASRIAFF L
//