ID F2Z3J4_HUMAN Unreviewed; 97 AA. AC F2Z3J4; DT 31-MAY-2011, integrated into UniProtKB/TrEMBL. DT 31-MAY-2011, sequence version 1. DT 16-JAN-2019, entry version 43. DE SubName: Full=Torsin-3A {ECO:0000313|Ensembl:ENSP00000435744}; GN Name=TOR3A {ECO:0000313|Ensembl:ENSP00000435744}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000435744, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000435744, ECO:0000313|Proteomes:UP000005640} 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., RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C., RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I., Aubin K., RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., RA 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., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., RA Hammond S., Harrison E.S., Hart E., Haugen E., Heath P.D., Holmes S., RA Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., RA James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., RA Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., RA Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., RA Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., RA Matthews N.S., McLaren S., Milne S., Mistry S., Moore M.J., RA Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., RA Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., RA Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., RA Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., RA Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., RA Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., RA Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., RA Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R., RA Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., RA Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R., Banerjee R., RA Bryant S.P., Burford D.C., Burrill W.D., Clegg S.M., Dhami P., RA Dovey O., Faulkner L.M., Gribble S.M., Langford C.F., Pandian R.D., RA Porter K.M., Prigmore E.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [2] {ECO:0000313|Ensembl:ENSP00000435744} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AL139132; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; F2Z3J4; -. DR jPOST; F2Z3J4; -. DR PeptideAtlas; F2Z3J4; -. DR Ensembl; ENST00000483887; ENSP00000435744; ENSG00000186283. DR UCSC; uc057npd.1; human. DR EuPathDB; HostDB:ENSG00000186283.13; -. DR HGNC; HGNC:11997; TOR3A. DR OpenTargets; ENSG00000186283; -. DR eggNOG; KOG2170; Eukaryota. DR eggNOG; ENOG410XR06; LUCA. DR GeneTree; ENSGT00940000154262; -. DR ChiTaRS; TOR3A; human. DR Proteomes; UP000005640; Chromosome 1. DR Bgee; ENSG00000186283; Expressed in 210 organ(s), highest expression level in oocyte. DR ExpressionAtlas; F2Z3J4; baseline and differential. DR GO; GO:0005524; F:ATP binding; IEA:InterPro. DR InterPro; IPR010448; Torsin. DR InterPro; IPR030552; Torsin-3A. DR PANTHER; PTHR10760; PTHR10760; 1. DR PANTHER; PTHR10760:SF3; PTHR10760:SF3; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Proteomics identification {ECO:0000213|MaxQB:F2Z3J4, KW ECO:0000213|PeptideAtlas:F2Z3J4}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 21 {ECO:0000256|SAM:SignalP}. FT CHAIN 22 97 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003293652. SQ SEQUENCE 97 AA; 10996 MW; 665A0E5D849AEDAB CRC64; MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE QLRAAGALSK RYWTLFSCQV WPDDCDEDEE AATGPLALGN VRCGHAW //