TOR4A_HUMAN
ID TOR4A_HUMAN Reviewed; 423 AA.
AC Q9NXH8; A2BFA4;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Torsin-4A;
DE AltName: Full=Torsin family 4 member A;
GN Name=TOR4A; Synonyms=C9orf167;
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].
RC TISSUE=Colon mucosa;
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 [2]
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 [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-81, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-63; THR-89 AND SER-106, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the ClpA/ClpB family. Torsin subfamily.
CC {ECO:0000305}.
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DR EMBL; AK000252; BAA91032.1; -; mRNA.
DR EMBL; BX255925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS7041.1; -.
DR RefSeq; NP_060193.2; NM_017723.2.
DR AlphaFoldDB; Q9NXH8; -.
DR SMR; Q9NXH8; -.
DR BioGRID; 120213; 41.
DR IntAct; Q9NXH8; 16.
DR MINT; Q9NXH8; -.
DR STRING; 9606.ENSP00000350102; -.
DR GlyGen; Q9NXH8; 1 site.
DR iPTMnet; Q9NXH8; -.
DR PhosphoSitePlus; Q9NXH8; -.
DR BioMuta; TOR4A; -.
DR DMDM; 147638588; -.
DR EPD; Q9NXH8; -.
DR jPOST; Q9NXH8; -.
DR MassIVE; Q9NXH8; -.
DR MaxQB; Q9NXH8; -.
DR PaxDb; Q9NXH8; -.
DR PeptideAtlas; Q9NXH8; -.
DR PRIDE; Q9NXH8; -.
DR ProteomicsDB; 83099; -.
DR Antibodypedia; 48995; 20 antibodies from 11 providers.
DR DNASU; 54863; -.
DR Ensembl; ENST00000357503.3; ENSP00000350102.2; ENSG00000198113.3.
DR GeneID; 54863; -.
DR KEGG; hsa:54863; -.
DR MANE-Select; ENST00000357503.3; ENSP00000350102.2; NM_017723.3; NP_060193.2.
DR UCSC; uc004cmn.4; human.
DR CTD; 54863; -.
DR DisGeNET; 54863; -.
DR GeneCards; TOR4A; -.
DR HGNC; HGNC:25981; TOR4A.
DR HPA; ENSG00000198113; Low tissue specificity.
DR neXtProt; NX_Q9NXH8; -.
DR OpenTargets; ENSG00000198113; -.
DR PharmGKB; PA162380839; -.
DR VEuPathDB; HostDB:ENSG00000198113; -.
DR eggNOG; KOG2170; Eukaryota.
DR GeneTree; ENSGT00950000182888; -.
DR HOGENOM; CLU_053537_1_0_1; -.
DR InParanoid; Q9NXH8; -.
DR OMA; REHIIQC; -.
DR OrthoDB; 757464at2759; -.
DR PhylomeDB; Q9NXH8; -.
DR TreeFam; TF314941; -.
DR PathwayCommons; Q9NXH8; -.
DR Reactome; R-HSA-114608; Platelet degranulation.
DR SignaLink; Q9NXH8; -.
DR BioGRID-ORCS; 54863; 13 hits in 1077 CRISPR screens.
DR GenomeRNAi; 54863; -.
DR Pharos; Q9NXH8; Tdark.
DR PRO; PR:Q9NXH8; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9NXH8; protein.
DR Bgee; ENSG00000198113; Expressed in buccal mucosa cell and 107 other tissues.
DR Genevisible; Q9NXH8; HS.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005635; C:nuclear envelope; IBA:GO_Central.
DR GO; GO:0031093; C:platelet alpha granule lumen; TAS:Reactome.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR010448; Torsin.
DR InterPro; IPR030551; Torsin-4A.
DR PANTHER; PTHR10760; PTHR10760; 1.
DR PANTHER; PTHR10760:SF1; PTHR10760:SF1; 1.
DR Pfam; PF06309; Torsin; 1.
DR SMART; SM00382; AAA; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW ATP-binding; Membrane; Nucleotide-binding; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..423
FT /note="Torsin-4A"
FT /id="PRO_0000287489"
FT TRANSMEM 122..138
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 47..68
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 194..201
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT MOD_RES 63
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 81
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 89
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 106
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CONFLICT 356
FT /note="Q -> R (in Ref. 1; BAA91032)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 423 AA; 46914 MW; 5CF52BC28A1AD7CC CRC64;
MDRGQPSLEP AAAAPRASGR CVIAPVRAVL RLRRRVCVLR KRRLLQPGGG PDVGTGAPRP
GCSPRAPRAD LDQPKFFTFD SPAELPSRTP RKKRRRSRLV LYPETSRKYR PRVEHRSRAQ
RCLLLLVAIV GFQVLNAIEN LDDNAQRYDL DGLEKALQRA VFGQPAAVSR IVALMRDYLA
THVHSRPLLL ALHGPSGVGK SHVGRLLARH FRSVLEDSAL VLQYHARHHC PEARAAQDCR
EELARRVADV VARAEAEEKT PLLVLDDVEL MPRPLLDELH GFLQPQRSHH FHNAIYVLLS
GAGGAEVTRF VLQNASRALP LRPDGFRSAE AAAAQAEEDL RASLLAVLSR EHPLWQAAAI
VPFLLLDKRD VVSCFRDEMA GEGFFPDQAR AENLAAQLSF YRVAGREFAV TGCKQVVATV
NLL
