GENTAUR Molecular Products.

 FAKD2_HUMAN             Reviewed;         710 AA.
 Q9NYY8; Q9NVX6; Q9Y2H7;
 07-FEB-2006, integrated into UniProtKB/Swiss-Prot.
 01-OCT-2000, sequence version 1.
 18-JUL-2018, entry version 135.
 RecName: Full=FAST kinase domain-containing protein 2, mitochondrial;
 Flags: Precursor;
 Name=FASTKD2 {ECO:0000303|PubMed:27667664,
 ECO:0000312|HGNC:HGNC:29160}; Synonyms=KIAA0971;
 Homo sapiens (Human).
 Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
 Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
 Catarrhini; Hominidae; Homo.
 NCBI_TaxID=9606;
 [1]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
 TISSUE=Brain;
 PubMed=10231032; DOI=10.1093/dnares/6.1.63;
 Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M.,
 Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.;
 "Prediction of the coding sequences of unidentified human genes. XIII.
 The complete sequences of 100 new cDNA clones from brain which code
 for large proteins in vitro.";
 DNA Res. 6:63-70(1999).
 [2]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
 TISSUE=Adrenal gland;
 PubMed=10931946; DOI=10.1073/pnas.160270997;
 Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
 Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H.,
 Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J.,
 Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M.,
 Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.;
 "Gene expression profiling in the human hypothalamus-pituitary-adrenal
 axis and full-length cDNA cloning.";
 Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
 [3]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
 TISSUE=Melanoma;
 PubMed=17974005; DOI=10.1186/1471-2164-8-399;
 Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
 Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
 Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
 Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
 "The full-ORF clone resource of the German cDNA consortium.";
 BMC Genomics 8:399-399(2007).
 [4]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
 PubMed=15815621; DOI=10.1038/nature03466;
 Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
 Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
 Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
 Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
 Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
 Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
 Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
 Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
 Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
 Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
 McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
 Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
 Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
 Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
 Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
 Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
 Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
 Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
 Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
 Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
 McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
 Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
 Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
 Waterston R.H., Wilson R.K.;
 "Generation and annotation of the DNA sequences of human chromosomes 2
 and 4.";
 Nature 434:724-731(2005).
 [5]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
 TISSUE=Placenta;
 PubMed=15489334; DOI=10.1101/gr.2596504;
 The MGC Project Team;
 "The status, quality, and expansion of the NIH full-length cDNA
 project: the Mammalian Gene Collection (MGC).";
 Genome Res. 14:2121-2127(2004).
 [6]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 442-710 (ISOFORM 1).
 TISSUE=Teratocarcinoma;
 PubMed=14702039; DOI=10.1038/ng1285;
 Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
 Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
 Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
 Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
 Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
 Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
 Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
 Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
 Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
 Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
 Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
 Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
 Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
 Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
 Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
 Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
 Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
 Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
 Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
 Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
 Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
 Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
 Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
 Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
 Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
 Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
 Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
 Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
 "Complete sequencing and characterization of 21,243 full-length human
 cDNAs.";
 Nat. Genet. 36:40-45(2004).
 [7]
 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 TISSUE=Cervix carcinoma;
 PubMed=18669648; DOI=10.1073/pnas.0805139105;
 Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
 Elledge S.J., Gygi S.P.;
 "A quantitative atlas of mitotic phosphorylation.";
 Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
 [8]
 SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
 PubMed=20869947; DOI=10.1016/j.bbrc.2010.09.075;
 Simarro M., Gimenez-Cassina A., Kedersha N., Lazaro J.B.,
 Adelmant G.O., Marto J.A., Rhee K., Tisdale S., Danial N.,
 Benarafa C., Orduna A., Anderson P.;
 "Fast kinase domain-containing protein 3 is a mitochondrial protein
 essential for cellular respiration.";
 Biochem. Biophys. Res. Commun. 401:440-446(2010).
 [9]
 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 PubMed=21269460; DOI=10.1186/1752-0509-5-17;
 Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
 Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
 "Initial characterization of the human central proteome.";
 BMC Syst. Biol. 5:17-17(2011).
 [10]
 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-126 AND SER-140, AND
 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 TISSUE=Erythroleukemia;
 PubMed=23186163; DOI=10.1021/pr300630k;
 Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
 Mohammed S.;
 "Toward a comprehensive characterization of a human cancer cell
 phosphoproteome.";
 J. Proteome Res. 12:260-271(2013).
 [11]
 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-708, AND IDENTIFICATION
 BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 TISSUE=Liver;
 PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
 Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
 Wang L., Ye M., Zou H.;
 "An enzyme assisted RP-RPLC approach for in-depth analysis of human
 liver phosphoproteome.";
 J. Proteomics 96:253-262(2014).
 [12]
 FUNCTION, IDENTIFICATION IN A COMPLEX WITH GRSF1; DDX28; DHX30 AND
 FASTKD5, SUBCELLULAR LOCATION, RNA-BINDING, AND IDENTIFICATION BY MASS
 SPECTROMETRY.
 PubMed=25683715; DOI=10.1016/j.celrep.2015.01.030;
 Antonicka H., Shoubridge E.A.;
 "Mitochondrial RNA granules are centers for post-transcriptional RNA
 processing and ribosome biogenesis.";
 Cell Rep. 0:0-0(2015).
 [13]
 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 PubMed=25944712; DOI=10.1002/pmic.201400617;
 Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
 Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
 "N-terminome analysis of the human mitochondrial proteome.";
 Proteomics 15:2519-2524(2015).
 [14]
 SUBUNIT, AND FUNCTION.
 PubMed=27667664; DOI=10.1016/j.cmet.2016.08.017;
 Arroyo J.D., Jourdain A.A., Calvo S.E., Ballarano C.A., Doench J.G.,
 Root D.E., Mootha V.K.;
 "A Genome-wide CRISPR Death Screen Identifies Genes Essential for
 Oxidative Phosphorylation.";
 Cell Metab. 24:875-885(2016).
 -!- FUNCTION: Plays an important role in assembly of the mitochondrial
     large ribosomal subunit (PubMed:25683715). As a component of a
     functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3,
     RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S
     mt-rRNA), controls 16S mt-rRNA abundance and is required for
     intra-mitochondrial translation (PubMed:27667664).
     {ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:27667664}.
 -!- SUBUNIT: Monomer. Found in a complex with GRSF1, DDX28, DHX30 and
     FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA)
     (PubMed:25683715). Forms a regulatory protein-RNA complex,
     consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S
     mt-rRNA (PubMed:27667664). {ECO:0000269|PubMed:25683715,
     ECO:0000269|PubMed:27667664}.
 -!- SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid
     {ECO:0000269|PubMed:20869947, ECO:0000269|PubMed:25683715}.
     Note=Localizes to mitochondrial RNA granules found in close
     proximity to the mitochondrial nucleoids.
     {ECO:0000269|PubMed:25683715}.
 -!- ALTERNATIVE PRODUCTS:
     Event=Alternative splicing; Named isoforms=2;
     Name=1;
       IsoId=Q9NYY8-1; Sequence=Displayed;
     Name=2;
       IsoId=Q9NYY8-2; Sequence=VSP_017186, VSP_017187;
 -!- TISSUE SPECIFICITY: Expression detected in spleen, thymus, testis,
     ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and
     white adipose tissue with highest expression in heart, smooth
     muscle and thyroid. {ECO:0000269|PubMed:20869947}.
 -!- SIMILARITY: Belongs to the FAST kinase family. {ECO:0000305}.
 -!- CAUTION: It is uncertain whether Met-1 or Met-17 is the initiator.
     {ECO:0000305}.
 -!- SEQUENCE CAUTION:
     Sequence=BAA76815.2; Type=Erroneous initiation; Evidence={ECO:0000305};
     Sequence=BAA91617.1; Type=Erroneous initiation; Evidence={ECO:0000305};
 -----------------------------------------------------------------------
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 EMBL; AB023188; BAA76815.2; ALT_INIT; mRNA.
 EMBL; AF223470; AAF64145.1; -; mRNA.
 EMBL; AL833877; CAD38734.1; -; mRNA.
 EMBL; AC008269; AAX93275.1; -; Genomic_DNA.
 EMBL; BC001544; AAH01544.1; -; mRNA.
 EMBL; AK001315; BAA91617.1; ALT_INIT; mRNA.
 CCDS; CCDS2371.1; -. [Q9NYY8-1]
 RefSeq; NP_001129665.1; NM_001136193.1. [Q9NYY8-1]
 RefSeq; NP_001129666.1; NM_001136194.1. [Q9NYY8-1]
 RefSeq; NP_055744.2; NM_014929.3. [Q9NYY8-1]
 UniGene; Hs.5930; -.
 UniGene; Hs.722628; -.
 ProteinModelPortal; Q9NYY8; -.
 SMR; Q9NYY8; -.
 BioGrid; 116535; 31.
 CORUM; Q9NYY8; -.
 IntAct; Q9NYY8; 11.
 MINT; Q9NYY8; -.
 STRING; 9606.ENSP00000236980; -.
 iPTMnet; Q9NYY8; -.
 PhosphoSitePlus; Q9NYY8; -.
 BioMuta; FASTKD2; -.
 DMDM; 74734717; -.
 EPD; Q9NYY8; -.
 MaxQB; Q9NYY8; -.
 PaxDb; Q9NYY8; -.
 PeptideAtlas; Q9NYY8; -.
 PRIDE; Q9NYY8; -.
 ProteomicsDB; 83300; -.
 ProteomicsDB; 83301; -. [Q9NYY8-2]
 DNASU; 22868; -.
 Ensembl; ENST00000236980; ENSP00000236980; ENSG00000118246. [Q9NYY8-1]
 Ensembl; ENST00000402774; ENSP00000385990; ENSG00000118246. [Q9NYY8-1]
 Ensembl; ENST00000403094; ENSP00000384929; ENSG00000118246. [Q9NYY8-1]
 GeneID; 22868; -.
 KEGG; hsa:22868; -.
 UCSC; uc002vbu.4; human. [Q9NYY8-1]
 CTD; 22868; -.
 DisGeNET; 22868; -.
 EuPathDB; HostDB:ENSG00000118246.13; -.
 GeneCards; FASTKD2; -.
 HGNC; HGNC:29160; FASTKD2.
 HPA; HPA067191; -.
 MalaCards; FASTKD2; -.
 MIM; 612322; gene.
 neXtProt; NX_Q9NYY8; -.
 OpenTargets; ENSG00000118246; -.
 Orphanet; 166105; FASTKD2-related infantile mitochondrial encephalomyopathy.
 Orphanet; 254905; Isolated cytochrome C oxidase deficiency.
 PharmGKB; PA134974924; -.
 eggNOG; ENOG410IH1K; Eukaryota.
 eggNOG; ENOG410ZQHV; LUCA.
 GeneTree; ENSGT00510000048773; -.
 HOGENOM; HOG000112491; -.
 HOVERGEN; HBG081516; -.
 InParanoid; Q9NYY8; -.
 KO; K18190; -.
 OMA; FDIWKLK; -.
 OrthoDB; EOG091G0WV6; -.
 PhylomeDB; Q9NYY8; -.
 TreeFam; TF352875; -.
 ChiTaRS; FASTKD2; human.
 GenomeRNAi; 22868; -.
 PRO; PR:Q9NYY8; -.
 Proteomes; UP000005640; Chromosome 2.
 Bgee; ENSG00000118246; -.
 CleanEx; HS_FASTKD2; -.
 ExpressionAtlas; Q9NYY8; baseline and differential.
 Genevisible; Q9NYY8; HS.
 GO; GO:0045171; C:intercellular bridge; IDA:HPA.
 GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB.
 GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
 GO; GO:0005634; C:nucleus; IDA:HPA.
 GO; GO:0035770; C:ribonucleoprotein granule; IDA:UniProtKB.
 GO; GO:0004672; F:protein kinase activity; IEA:InterPro.
 GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
 GO; GO:0019843; F:rRNA binding; IDA:UniProtKB.
 GO; GO:0045333; P:cellular respiration; ISS:UniProtKB.
 GO; GO:1902775; P:mitochondrial large ribosomal subunit assembly; IMP:UniProtKB.
 GO; GO:0070131; P:positive regulation of mitochondrial translation; IMP:UniProtKB.
 InterPro; IPR013579; FAST_2.
 InterPro; IPR010622; FAST_Leu-rich.
 InterPro; IPR013584; RAP.
 Pfam; PF06743; FAST_1; 1.
 Pfam; PF08368; FAST_2; 1.
 Pfam; PF08373; RAP; 1.
 SMART; SM00952; RAP; 1.
 PROSITE; PS51286; RAP; 1.
 1: Evidence at protein level;
 Alternative splicing; Complete proteome; Mitochondrion;
 Mitochondrion nucleoid; Phosphoprotein; Polymorphism;
 Reference proteome; Ribosome biogenesis; RNA-binding; rRNA-binding;
 Transit peptide.
 TRANSIT       1      ?       Mitochondrion. {ECO:0000305}.
 CHAIN         ?    710       FAST kinase domain-containing protein 2,
                              mitochondrial.
                              /FTId=PRO_0000050783.
 DOMAIN      634    691       RAP. {ECO:0000255|PROSITE-
                              ProRule:PRU00619}.
 MOD_RES     126    126       Phosphoserine.
                              {ECO:0000244|PubMed:23186163}.
 MOD_RES     140    140       Phosphoserine.
                              {ECO:0000244|PubMed:23186163}.
 MOD_RES     708    708       Phosphoserine.
                              {ECO:0000244|PubMed:24275569}.
 VAR_SEQ     634    648       VAVLCVSRSAYCLGS -> LLTYISFAGLSELKS (in
                              isoform 2).
                              {ECO:0000303|PubMed:10231032}.
                              /FTId=VSP_017186.
 VAR_SEQ     649    710       Missing (in isoform 2).
                              {ECO:0000303|PubMed:10231032}.
                              /FTId=VSP_017187.
 VARIANT      15     15       S -> N (in dbSNP:rs3762568).
                              /FTId=VAR_053889.
 VARIANT     445    445       V -> E (in dbSNP:rs13003768).
                              /FTId=VAR_053890.
 SEQUENCE   710 AA;  81463 MW;  11BF1D5A0CF1DA15 CRC64;
 MLTTLKPFGS VSVESKMNNK AGSFFWNLRQ FSTLVSTSRT MRLCCLGLCK PKIVHSNWNI
 LNNFHNRMQS TDIIRYLFQD AFIFKSDVGF QTKGISTLTA LRIERLLYAK RLFFDSKQSL
 VPVDKSDDEL KKVNLNHEVS NEDVLTKETK PNRISSRKLS EECNSLSDVL DAFSKAPTFP
 SSNYFTAMWT IAKRLSDDQK RFEKRLMFSH PAFNQLCEHM MREAKIMQYK YLLFSLHAIV
 KLGIPQNTIL VQTLLRVTQE RINECDEICL SVLSTVLEAM EPCKNVHVLR TGFRILVDQQ
 VWKIEDVFTL QVVMKCIGKD APIALKRKLE MKALRELDRF SVLNSQHMFE VLAAMNHRSL
 ILLDECSKVV LDNIHGCPLR IMINILQSCK DLQYHNLDLF KGLADYVAAT FDIWKFRKVL
 FILILFENLG FRPVGLMDLF MKRIVEDPES LNMKNILSIL HTYSSLNHVY KCQNKEQFVE
 VMASALTGYL HTISSENLLD AVYSFCLMNY FPLAPFNQLL QKDIISELLT SDDMKNAYKL
 HTLDTCLKLD DTVYLRDIAL SLPQLPRELP SSHTNAKVAE VLSSLLGGEG HFSKDVHLPH
 NYHIDFEIRM DTNRNQVLPL SDVDTTSATD IQRVAVLCVS RSAYCLGSSH PRGFLAMKMR
 HLNAMGFHVI LVNNWEMDKL EMEDAVTFLK TKIYSVEALP VAAVNVQSTQ

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