(data stored in ACNUC13530 zone)

HOVERGEN: PFTK2_HUMAN

ID   PFTK2_HUMAN             Reviewed;         384 AA.
AC   Q96Q40; A8K8R9; Q4ZG86; Q53TV1; Q6ZMR9; Q8IUP1;
DT   19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-NOV-2009, entry version 70.
DE   RecName: Full=Serine/threonine-protein kinase PFTAIRE-2;
DE            EC=2.7.11.22;
DE   AltName: Full=Serine/threonine-protein kinase ALS2CR7;
DE   AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein;
GN   Name=PFTK2; Synonyms=ALS2CR7;
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).
RC   TISSUE=Testis;
RX   MEDLINE=21470351; PubMed=11586298; DOI=10.1038/ng1001-166;
RA   Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA   Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R.,
RA   Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J.,
RA   Nasir J., Brown R.H. Jr., Scherer S.W., Rouleau G.A., Hayden M.R.,
RA   Ikeda J.-E.;
RT   "A gene encoding a putative GTPase regulator is mutated in familial
RT   amyotrophic lateral sclerosis 2.";
RL   Nat. Genet. 29:166-173(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Glial tumor, and Testis;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 4.";
RL   Nature 434:724-731(2005).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC   TISSUE=Brain;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   NOMENCLATURE.
RX   PubMed=12471243; DOI=10.1126/science.1075762;
RA   Manning G., Whyte D.B., Martinez R., Hunter T., Sudarsanam S.;
RT   "The protein kinase complement of the human genome.";
RL   Science 298:1912-1934(2002).
RN   [7]
RP   VARIANTS [LARGE SCALE ANALYSIS] GLY-13; GLU-42; ARG-76; ILE-204 AND
RP   ASP-225.
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   -!- CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
CC   -!- COFACTOR: Magnesium (By similarity).
CC   -!- INTERACTION:
CC       P24941:CDK2; NbExp=1; IntAct=EBI-1051975, EBI-375096;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q96Q40-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q96Q40-2; Sequence=VSP_023743, VSP_023744;
CC         Note=No experimental confirmation available;
CC       Name=3;
CC         IsoId=Q96Q40-3; Sequence=VSP_023745;
CC         Note=No experimental confirmation available;
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.
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CC   -!- GENE_FAMILY: HBG014652 [ FAMILY / ALN / TREE ]
DR   EMBL; AB053308; BAB69017.1; -; mRNA.
DR   EMBL; AK131512; BAD18656.1; ALT_INIT; mRNA.
DR   EMBL; AK292434; BAF85123.1; -; mRNA.
DR   EMBL; AC007242; AAX93182.1; -; Genomic_DNA.
DR   EMBL; AC007358; AAX88914.1; -; Genomic_DNA.
DR   EMBL; CH471063; EAW70295.1; -; Genomic_DNA.
DR   EMBL; BC038807; AAH38807.1; -; mRNA.
DR   IPI; IPI00044678; -.
DR   IPI; IPI00442058; -.
DR   IPI; IPI00829793; -.
DR   RefSeq; NP_631897.1; -.
DR   UniGene; Hs.348711; -.
DR   HSSP; P24941; 1DI8.
DR   IntAct; Q96Q40; 1.
DR   PhosphoSite; Q96Q40; -.
DR   PRIDE; Q96Q40; -.
DR   Ensembl; ENST00000260967; ENSP00000260967; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000374598; ENSP00000363726; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000409505; ENSP00000387055; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000410091; ENSP00000386901; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000434439; ENSP00000412775; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000450471; ENSP00000406472; ENSG00000138395; Homo sapiens.
DR   Ensembl; ENST00000451080; ENSP00000389831; ENSG00000138395; Homo sapiens.
DR   GeneID; 65061; -.
DR   KEGG; hsa:65061; -.
DR   UCSC; uc002uys.2; human.
DR   UCSC; uc002uyt.2; human.
DR   UCSC; uc010fto.1; human.
DR   CTD; 65061; -.
DR   GeneCards; GC02P202380; -.
DR   H-InvDB; HIX0002745; -.
DR   HGNC; HGNC:14434; PFTK2.
DR   HPA; HPA015786; -.
DR   PharmGKB; PA24747; -.
DR   HOGENOM; Q96Q40; -.
DR   HOVERGEN; Q96Q40; -.
DR   OMA; YQLPDEE; -.
DR   BRENDA; 2.7.11.22; 247.
DR   DrugBank; DB00171; Adenosine triphosphate.
DR   NextBio; 67244; -.
DR   ArrayExpress; Q96Q40; -.
DR   Bgee; Q96Q40; -.
DR   CleanEx; HS_PFTK2; -.
DR   Genevestigator; Q96Q40; -.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0004693; F:cyclin-dependent protein kinase activity; IEA:EC.
DR   GO; GO:0000287; F:magnesium ion binding; IEA:UniProtKB-KW.
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_BS.
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;
DR   PRODOM; Q96Q40.
DR   SWISS-2DPAGE; Q96Q40.
KW   Alternative splicing; ATP-binding; Complete proteome; Kinase;
KW   Magnesium; Metal-binding; Nucleotide-binding; Polymorphism;
KW   Serine/threonine-protein kinase; Transferase.
FT   CHAIN         1    384       Serine/threonine-protein kinase PFTAIRE-
FT                                2.
FT                                /FTId=PRO_0000085619.
FT   DOMAIN       52    336       Protein kinase.
FT   NP_BIND      58     66       ATP (By similarity).
FT   ACT_SITE    173    173       Proton acceptor (By similarity).
FT   BINDING      81     81       ATP (By similarity).
FT   VAR_SEQ     131    151       Missing (in isoform 2).
FT                                /FTId=VSP_023743.
FT   VAR_SEQ     286    371       EWFPLPTPRSLHVVWNRLGRVPEAEDLASQMLKGFPRDRVS
FT                                AQEALVHDYFSALPSQLYQLPDEESLFTVSGVRLKPEMCDL
FT                                LASY -> GGSKKQHGWHTDIGQHRTAAMQPCSRNVSF
FT                                (in isoform 2).
FT                                /FTId=VSP_023744.
FT   VAR_SEQ     350    384       Missing (in isoform 3).
FT                                /FTId=VSP_023745.
FT   VARIANT      13     13       R -> G.
FT                                /FTId=VAR_042016.
FT   VARIANT      42     42       K -> E (in a renal clear cell carcinoma
FT                                sample; somatic mutation).
FT                                /FTId=VAR_042017.
FT   VARIANT      76     76       Q -> R.
FT                                /FTId=VAR_042018.
FT   VARIANT     204    204       T -> I.
FT                                /FTId=VAR_042019.
FT   VARIANT     225    225       E -> D (in a breast infiltrating ductal
FT                                carcinoma sample; somatic mutation).
FT                                /FTId=VAR_042020.
SQ   SEQUENCE   384 AA;  43574 MW;  6CAAD08E6E0E43EB CRC64;
     MTSFHPRGLQ AARAQKFKSK RPRSNSDCFQ EEDLRQGFQW RKSLPFGAAS SYLNLEKLGE
     GSYATVYKGI SRINGQLVAL KVISMNAEEG VPFTAIREAS LLKGLKHANI VLLHDIIHTK
     ETLTFVFEYM HTDLAQYMSQ HPGGLHPHNV RLFMFQLLRG LAYIHHQHVL HRDLKPQNLL
     ISHLGELKLA DFGLARAKSI PSQTYSSEVV TLWYRPPDAL LGATEYSSEL DIWGAGCIFI
     EMFQGQPLFP GVSNILEQLE KIWEVLGVPT EDTWPGVSKL PNYNPEWFPL PTPRSLHVVW
     NRLGRVPEAE DLASQMLKGF PRDRVSAQEA LVHDYFSALP SQLYQLPDEE SLFTVSGVRL
     KPEMCDLLAS YQKGHHPAQF SKCW
//

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