ID PFTK1_HUMAN Reviewed; 469 AA. AC O94921; A6NK51; Q75N06; Q75N22; Q8N764; Q9H3D7; Q9UDR0; DT 30-AUG-2002, integrated into UniProtKB/Swiss-Prot. DT 18-APR-2006, sequence version 3. DT 25-NOV-2008, entry version 80. DE RecName: Full=Serine/threonine-protein kinase PFTAIRE-1; DE EC=2.7.11.22; GN Name=PFTK1; Synonyms=KIAA0834; 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; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND RP TISSUE SPECIFICITY. RC TISSUE=Cervix carcinoma; RX MEDLINE=21213900; PubMed=11313143; DOI=10.1016/S0378-1119(01)00391-2; RA Yang T., Chen J.-Y.; RT "Identification and cellular localization of human PFTAIRE1."; RL Gene 267:165-172(2001). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Brain; RX MEDLINE=99156230; PubMed=10048485; DOI=10.1093/dnares/5.6.355; RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., RA Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XII. RT The complete sequences of 100 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 5:355-364(1998). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [4] RP VARIANTS [LARGE SCALE ANALYSIS] ILE-432 AND ARG-463. RX PubMed=17344846; DOI=10.1038/nature05610; RA Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., RA Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., RA O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., RA Bhamra G., Buck G., Choudhury B., Clements J., Cole J., Dicks E., RA Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., RA Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., RA Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., RA West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., RA Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., RA DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., RA Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., RA Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.; RT "Patterns of somatic mutation in human cancer genomes."; RL Nature 446:153-158(2007). CC -!- FUNCTION: May play a role in meiosis as well as in neuron CC differentiation and/or function (By similarity). CC -!- CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. CC -!- INTERACTION: CC P30281:CCND3; NbExp=4; IntAct=EBI-1043945, EBI-375013; CC P38936:CDKN1A; NbExp=4; IntAct=EBI-1043945, EBI-375077; CC P01877:IGHA2; NbExp=1; IntAct=EBI-1043945, EBI-1044357; CC P31946:YWHAB; NbExp=5; IntAct=EBI-1043945, EBI-359815; CC P62258:YWHAE; NbExp=3; IntAct=EBI-1043945, EBI-356498; CC Q04917:YWHAH; NbExp=3; IntAct=EBI-1043945, EBI-306940; CC P27348:YWHAQ; NbExp=3; IntAct=EBI-1043945, EBI-359854; CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=O94921-1; Sequence=Displayed; CC Name=2; CC IsoId=O94921-2; Sequence=VSP_004803; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Highly expressed in brain, pancreas, kidney, CC heart, testis and ovary. Also detected at lower levels in other CC tissues except in spleen and thymus where expression is barely CC detected. CC -!- SIMILARITY: Belongs to the protein kinase superfamily. CMGC CC Ser/Thr protein kinase family. CDC2/CDKX subfamily. CC -!- SIMILARITY: Contains 1 protein kinase domain. 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; AF119833; AAG43234.1; -; mRNA. DR EMBL; AB020641; BAA74857.2; ALT_INIT; mRNA. DR EMBL; AC000057; AAS07411.1; -; Genomic_DNA. DR EMBL; AC000059; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC002065; AAM48566.1; -; Genomic_DNA. DR EMBL; AC002456; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC002458; AAS07412.1; -; Genomic_DNA. DR EMBL; AC006036; AAF19245.1; -; Genomic_DNA. DR RefSeq; NP_036527.1; -. DR UniGene; Hs.430742; -. DR HSSP; P24941; 1GII. DR IntAct; O94921; -. DR PhosphoSite; O94921; -. DR Ensembl; ENSG00000058091; Homo sapiens. DR GeneID; 5218; -. DR KEGG; hsa:5218; -. DR HGNC; HGNC:8883; PFTK1. DR HPA; HPA015267; -. DR MIM; 610679; gene. DR PharmGKB; PA33221; -. DR HOGENOM; O94921; -. DR HOVERGEN; O94921; -. DR NextBio; 20182; -. DR ArrayExpress; O94921; -. DR CleanEx; HS_PFTK1; -. DR GermOnline; ENSG00000058091; Homo sapiens. DR GO; GO:0005634; C:nucleus; TAS:ProtInc. DR GO; GO:0005524; F:ATP binding; IEA:InterPro. DR GO; GO:0004693; F:cyclin-dependent protein kinase activity; IEA:EC. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0006468; P:protein amino acid phosphorylation; IEA:InterPro. DR InterPro; IPR000719; Prot_kinase_core. DR InterPro; IPR017441; Protein_kinase_ATP_bd_CS. DR InterPro; IPR017442; Se/Thr_pkinase-rel. DR InterPro; IPR008271; Ser_thr_pkin_AS. DR InterPro; IPR002290; Ser_thr_pkinase. DR Pfam; PF00069; Pkinase; 1. DR ProDom; PD000001; Prot_kinase; 1. DR SMART; SM00220; S_TKc; 1. DR PROSITE; PS00107; PROTEIN_KINASE_ATP; 1. DR PROSITE; PS50011; PROTEIN_KINASE_DOM; 1. DR PROSITE; PS00108; PROTEIN_KINASE_ST; 1. PE 1: Evidence at protein level; KW Alternative splicing; ATP-binding; Cytoplasm; Kinase; KW Nucleotide-binding; Nucleus; Polymorphism; KW Serine/threonine-protein kinase; Transferase. FT CHAIN 1 469 Serine/threonine-protein kinase PFTAIRE- FT 1. FT /FTId=PRO_0000086506. FT DOMAIN 135 419 Protein kinase. FT NP_BIND 141 149 ATP (By similarity). FT ACT_SITE 256 256 Proton acceptor (By similarity). FT BINDING 164 164 ATP (By similarity). FT VAR_SEQ 1 41 MCDLIEPQPAEKIGKMKKLRRTLSESFSRIALKKDDTTFDE FT -> MHGYFGCNAAAEPGYSAFVGTPQ (in isoform FT 2). FT /FTId=VSP_004803. FT VARIANT 432 432 M -> I (in an ovarian mucinous carcinoma; FT somatic mutation). FT /FTId=VAR_046765. FT VARIANT 463 463 S -> R. FT /FTId=VAR_046766. FT CONFLICT 158 158 G -> W (in Ref. 1; AAG43234). SQ SEQUENCE 469 AA; 53057 MW; 32CF9B9B7BD9CE0E CRC64; MCDLIEPQPA EKIGKMKKLR RTLSESFSRI ALKKDDTTFD EICVTKMSTR NCQGMDSVIK PLDTIPEDKK VRVQRTQSTF DPFEKPANQV KRVHSENNAC INFKTSSTGK ESPKVRRHSS PSSPTSPKFG KADSYEKLEK LGEGSYATVY KGKSKVNGKL VALKVIRLQE EEGTPFTAIR EASLLKGLKH ANIVLLHDII HTKETLTLVF EYVHTDLCQY MDKHPGGLHP DNVKLFLFQL LRGLSYIHQR YILHRDLKPQ NLLISDTGEL KLADFGLARA KSVPSHTYSN EVVTLWYRPP DVLLGSTEYS TCLDMWGVGC IFVEMIQGVA AFPGMKDIQD QLERIFLVLG TPNEDTWPGV HSLPHFKPER FTLYSSKNLR QAWNKLSYVN HAEDLASKLL QCSPKNRLSA QAALSHEYFS DLPPRLWELT DMSSIFTVPN VRLQPEAGES MRAFGKNNSY GKSLSNSKH //