TOR3A_HUMAN
ID TOR3A_HUMAN Reviewed; 397 AA.
AC Q9H497; B4DSY0; B7ZB65; Q5M7Y7; Q8WVA7; Q8WWM2; Q9H495; Q9H6E7;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Torsin-3A;
DE AltName: Full=ATP-dependent interferon-responsive protein;
DE AltName: Full=Torsin family 3 member A;
DE Flags: Precursor;
GN Name=TOR3A; Synonyms=ADIR;
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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE
RP SPECIFICITY, AND SUBCELLULAR LOCATION.
RC TISSUE=Lymphoma;
RX PubMed=11863361; DOI=10.1006/geno.2002.6709;
RA Dron M., Meritet J.F., Dandoy-Dron F., Meyniel J.P., Maury C., Tovey M.G.;
RT "Molecular cloning of ADIR, a novel interferon responsive gene encoding a
RT protein related to the torsins.";
RL Genomics 79:315-325(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP LEU-13.
RC TISSUE=Kidney epithelium, Pancreas, and Stomach;
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 MRNA] (ISOFORM 1), AND VARIANT LEU-13.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP LEU-13.
RC TISSUE=Cervix, Eye, and Muscle;
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 [6]
RP SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT, AND MUTAGENESIS OF GLU-236.
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).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- SUBUNIT: May not form homohexamers. {ECO:0000269|PubMed:20015956}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum lumen.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=ADIR1;
CC IsoId=Q9H497-1; Sequence=Displayed;
CC Name=2; Synonyms=ADIR2;
CC IsoId=Q9H497-2; Sequence=VSP_017666, VSP_017667;
CC Name=3;
CC IsoId=Q9H497-3; Sequence=VSP_017665;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed. Highest expression in
CC stomach, salivary glands and lymph nodes. Isoform 2 is expressed in
CC placenta. {ECO:0000269|PubMed:11863361}.
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; AJ299403; CAC13973.1; -; mRNA.
DR EMBL; AJ299441; CAC14461.1; -; mRNA.
DR EMBL; AJ318044; CAC88129.1; -; Genomic_DNA.
DR EMBL; AJ318045; CAC88129.1; JOINED; Genomic_DNA.
DR EMBL; AJ318046; CAC88129.1; JOINED; Genomic_DNA.
DR EMBL; AJ318047; CAC88129.1; JOINED; Genomic_DNA.
DR EMBL; AJ318048; CAC88129.1; JOINED; Genomic_DNA.
DR EMBL; AJ318049; CAC88129.1; JOINED; Genomic_DNA.
DR EMBL; AJ318044; CAC88130.1; -; Genomic_DNA.
DR EMBL; AJ318045; CAC88130.1; JOINED; Genomic_DNA.
DR EMBL; AJ318046; CAC88130.1; JOINED; Genomic_DNA.
DR EMBL; AJ318047; CAC88130.1; JOINED; Genomic_DNA.
DR EMBL; AJ318048; CAC88130.1; JOINED; Genomic_DNA.
DR EMBL; AJ318050; CAC88130.1; JOINED; Genomic_DNA.
DR EMBL; AK025998; BAB15312.1; -; mRNA.
DR EMBL; CR457354; CAG33635.1; -; mRNA.
DR EMBL; AK299966; BAG61792.1; -; mRNA.
DR EMBL; AK316530; BAH14901.1; -; mRNA.
DR EMBL; AL139132; CAH70928.1; -; Genomic_DNA.
DR EMBL; AL139132; CAH70929.1; -; Genomic_DNA.
DR EMBL; BC001085; AAH01085.1; -; mRNA.
DR EMBL; BC007571; AAH07571.1; -; mRNA.
DR EMBL; BC011746; AAH11746.1; -; mRNA.
DR EMBL; BC018292; AAH18292.1; -; mRNA.
DR EMBL; BC088368; AAH88368.1; -; mRNA.
DR CCDS; CCDS1329.1; -. [Q9H497-1]
DR RefSeq; NP_071766.2; NM_022371.3. [Q9H497-1]
DR AlphaFoldDB; Q9H497; -.
DR SMR; Q9H497; -.
DR BioGRID; 122112; 127.
DR DIP; DIP-59333N; -.
DR IntAct; Q9H497; 17.
DR MINT; Q9H497; -.
DR STRING; 9606.ENSP00000356599; -.
DR GlyGen; Q9H497; 2 sites.
DR iPTMnet; Q9H497; -.
DR PhosphoSitePlus; Q9H497; -.
DR BioMuta; TOR3A; -.
DR DMDM; 74752636; -.
DR EPD; Q9H497; -.
DR jPOST; Q9H497; -.
DR MassIVE; Q9H497; -.
DR MaxQB; Q9H497; -.
DR PaxDb; Q9H497; -.
DR PeptideAtlas; Q9H497; -.
DR PRIDE; Q9H497; -.
DR ProteomicsDB; 80801; -. [Q9H497-1]
DR ProteomicsDB; 80802; -. [Q9H497-2]
DR ProteomicsDB; 80803; -. [Q9H497-3]
DR Antibodypedia; 20580; 141 antibodies from 23 providers.
DR DNASU; 64222; -.
DR Ensembl; ENST00000352445.10; ENSP00000335351.6; ENSG00000186283.14. [Q9H497-2]
DR Ensembl; ENST00000367627.8; ENSP00000356599.3; ENSG00000186283.14. [Q9H497-1]
DR GeneID; 64222; -.
DR KEGG; hsa:64222; -.
DR MANE-Select; ENST00000367627.8; ENSP00000356599.3; NM_022371.4; NP_071766.2.
DR UCSC; uc001gmd.4; human. [Q9H497-1]
DR CTD; 64222; -.
DR DisGeNET; 64222; -.
DR GeneCards; TOR3A; -.
DR HGNC; HGNC:11997; TOR3A.
DR HPA; ENSG00000186283; Low tissue specificity.
DR MIM; 607555; gene.
DR neXtProt; NX_Q9H497; -.
DR OpenTargets; ENSG00000186283; -.
DR PharmGKB; PA36678; -.
DR VEuPathDB; HostDB:ENSG00000186283; -.
DR eggNOG; KOG2170; Eukaryota.
DR GeneTree; ENSGT00950000182888; -.
DR HOGENOM; CLU_053537_0_0_1; -.
DR InParanoid; Q9H497; -.
DR OMA; EIAQMMV; -.
DR OrthoDB; 1453168at2759; -.
DR PhylomeDB; Q9H497; -.
DR TreeFam; TF314941; -.
DR PathwayCommons; Q9H497; -.
DR SignaLink; Q9H497; -.
DR BioGRID-ORCS; 64222; 15 hits in 1081 CRISPR screens.
DR ChiTaRS; TOR3A; human.
DR GenomeRNAi; 64222; -.
DR Pharos; Q9H497; Tbio.
DR PRO; PR:Q9H497; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9H497; protein.
DR Bgee; ENSG00000186283; Expressed in oocyte and 187 other tissues.
DR ExpressionAtlas; Q9H497; baseline and differential.
DR Genevisible; Q9H497; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
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; IDA:UniProtKB.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR010448; Torsin.
DR InterPro; IPR030552; Torsin-3A.
DR PANTHER; PTHR10760; PTHR10760; 1.
DR PANTHER; PTHR10760:SF3; PTHR10760:SF3; 1.
DR Pfam; PF06309; Torsin; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Cytoplasm; Endoplasmic reticulum;
KW Glycoprotein; Nucleotide-binding; Reference proteome; Signal.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..397
FT /note="Torsin-3A"
FT /id="PRO_0000228147"
FT BINDING 167..174
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT CARBOHYD 122
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..216
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_017665"
FT VAR_SEQ 315..336
FT /note="DNGFGHSRLVKENLIDYFIPFL -> GFSFLTTRWPHLDLPTSSVAPT (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:11863361"
FT /id="VSP_017666"
FT VAR_SEQ 337..397
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11863361"
FT /id="VSP_017667"
FT VARIANT 13
FT /note="F -> L (in dbSNP:rs2296377)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_025697"
FT MUTAGEN 236
FT /note="E->Q: No effect on subcellular location."
FT /evidence="ECO:0000269|PubMed:20015956"
FT CONFLICT 272
FT /note="L -> P (in Ref. 5; AAH18292)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 397 AA; 46199 MW; 459CD18EA22709FE CRC64;
MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE QLRAAGALSK
RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL LTTWYCSFKD CCPRGDCRIS
NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG YLETPQPEKA LALSFHGWSG TGKNFVARML
VENLYRDGLM SDCVRMFIAT FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL
HPGLLEVLGP HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME
HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA FLSQELLYKE
ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS
