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FAST kinase domain-containing protein 2, mitochondrial

 FAKD2_HUMAN             Reviewed;         710 AA.
Q9NYY8; Q9NVX6; Q9Y2H7;
07-FEB-2006, integrated into UniProtKB/Swiss-Prot.
01-OCT-2000, sequence version 1.
25-OCT-2017, entry version 129.
RecName: Full=FAST kinase domain-containing protein 2, mitochondrial;
Flags: Precursor;
Name=FASTKD2; 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 posttranscriptional 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).
-!- FUNCTION: Plays an important role in assembly of the mitochondrial
large ribosomal subunit (PubMed:25683715).
{ECO:0000269|PubMed:25683715}.
-!- SUBUNIT: Monomer. Found in a complex with GRSF1, DDX28, DHX30 and
FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA).
{ECO:0000269|PubMed:25683715}.
-!- 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; 30.
CORUM; Q9NYY8; -.
IntAct; Q9NYY8; 7.
MINT; MINT-8051813; -.
STRING; 9606.ENSP00000236980; -.
iPTMnet; Q9NYY8; -.
PhosphoSitePlus; Q9NYY8; -.
BioMuta; FASTKD2; -.
DMDM; 74734717; -.
EPD; Q9NYY8; -.
MaxQB; Q9NYY8; -.
PaxDb; Q9NYY8; -.
PeptideAtlas; Q9NYY8; -.
PRIDE; Q9NYY8; -.
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; IDA: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.
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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