ID FAKD3_HUMAN Reviewed; 662 AA.
AC Q14CZ7; Q9BVD3;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 2.
DT 24-JAN-2024, entry version 114.
DE RecName: Full=FAST kinase domain-containing protein 3, mitochondrial;
DE Flags: Precursor;
GN Name=FASTKD3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-56.
RC TISSUE=Brain, and Placenta;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RX PubMed=20869947; DOI=10.1016/j.bbrc.2010.09.075;
RA Simarro M., Gimenez-Cassina A., Kedersha N., Lazaro J.B., Adelmant G.O.,
RA Marto J.A., Rhee K., Tisdale S., Danial N., Benarafa C., Orduna A.,
RA Anderson P.;
RT "Fast kinase domain-containing protein 3 is a mitochondrial protein
RT essential for cellular respiration.";
RL Biochem. Biophys. Res. Commun. 401:440-446(2010).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] VAL-22.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [5]
RP SUBCELLULAR LOCATION, FUNCTION, AND DOMAIN.
RX PubMed=27789713; DOI=10.1074/jbc.m116.730291;
RA Boehm E., Zornoza M., Jourdain A.A., Delmiro Magdalena A.,
RA Garcia-Consuegra I., Torres Merino R., Orduna A., Martin M.A.,
RA Martinou J.C., De la Fuente M.A., Simarro M.;
RT "Role of FAST kinase domains 3 (FASTKD3) in post-transcriptional regulation
RT of mitochondrial gene expression.";
RL J. Biol. Chem. 291:25877-25887(2016).
CC -!- FUNCTION: Required for normal mitochondrial respiration
CC (PubMed:20869947). Increases steady-state levels and half-lives of a
CC subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2,
CC and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases
CC mitochondrial complex IV assembly and activity (PubMed:27789713).
CC {ECO:0000269|PubMed:20869947, ECO:0000269|PubMed:27789713}.
CC -!- INTERACTION:
CC Q14CZ7; Q6RW13: AGTRAP; NbExp=3; IntAct=EBI-10234819, EBI-741181;
CC Q14CZ7; Q8IZU0: FAM9B; NbExp=4; IntAct=EBI-10234819, EBI-10175124;
CC Q14CZ7; P43365: MAGEA12; NbExp=3; IntAct=EBI-10234819, EBI-749530;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20869947,
CC ECO:0000269|PubMed:27789713}.
CC -!- TISSUE SPECIFICITY: Expression detected in spleen, thymus, testis,
CC ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and
CC white adipose tissue with highest expression in liver and thyroid.
CC {ECO:0000269|PubMed:20869947}.
CC -!- DOMAIN: RAP domain is required for FASTKD3 function in mRNA stability
CC and translation. {ECO:0000269|PubMed:27789713}.
CC -!- SIMILARITY: Belongs to the FAST kinase family. {ECO:0000305}.
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DR EMBL; AC010346; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001295; AAH01295.2; -; mRNA.
DR EMBL; BC113563; AAI13564.1; -; mRNA.
DR CCDS; CCDS3873.1; -.
DR RefSeq; NP_076996.2; NM_024091.3.
DR RefSeq; XP_006714561.1; XM_006714498.1.
DR AlphaFoldDB; Q14CZ7; -.
DR SMR; Q14CZ7; -.
DR BioGRID; 122523; 134.
DR IntAct; Q14CZ7; 79.
DR MINT; Q14CZ7; -.
DR STRING; 9606.ENSP00000264669; -.
DR iPTMnet; Q14CZ7; -.
DR PhosphoSitePlus; Q14CZ7; -.
DR SwissPalm; Q14CZ7; -.
DR BioMuta; FASTKD3; -.
DR DMDM; 294862434; -.
DR EPD; Q14CZ7; -.
DR jPOST; Q14CZ7; -.
DR MassIVE; Q14CZ7; -.
DR MaxQB; Q14CZ7; -.
DR PaxDb; 9606-ENSP00000264669; -.
DR PeptideAtlas; Q14CZ7; -.
DR ProteomicsDB; 60338; -.
DR Pumba; Q14CZ7; -.
DR Antibodypedia; 22426; 207 antibodies from 28 providers.
DR DNASU; 79072; -.
DR Ensembl; ENST00000264669.10; ENSP00000264669.5; ENSG00000124279.12.
DR GeneID; 79072; -.
DR KEGG; hsa:79072; -.
DR MANE-Select; ENST00000264669.10; ENSP00000264669.5; NM_024091.4; NP_076996.2.
DR UCSC; uc003jeb.4; human.
DR AGR; HGNC:28758; -.
DR CTD; 79072; -.
DR DisGeNET; 79072; -.
DR GeneCards; FASTKD3; -.
DR HGNC; HGNC:28758; FASTKD3.
DR HPA; ENSG00000124279; Low tissue specificity.
DR MIM; 617530; gene.
DR neXtProt; NX_Q14CZ7; -.
DR OpenTargets; ENSG00000124279; -.
DR PharmGKB; PA145148868; -.
DR VEuPathDB; HostDB:ENSG00000124279; -.
DR eggNOG; ENOG502QW8P; Eukaryota.
DR GeneTree; ENSGT01030000234607; -.
DR HOGENOM; CLU_028858_0_0_1; -.
DR InParanoid; Q14CZ7; -.
DR OMA; VQIPYHE; -.
DR OrthoDB; 4051655at2759; -.
DR PhylomeDB; Q14CZ7; -.
DR TreeFam; TF324885; -.
DR PathwayCommons; Q14CZ7; -.
DR SignaLink; Q14CZ7; -.
DR BioGRID-ORCS; 79072; 13 hits in 1157 CRISPR screens.
DR GenomeRNAi; 79072; -.
DR Pharos; Q14CZ7; Tbio.
DR PRO; PR:Q14CZ7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q14CZ7; Protein.
DR Bgee; ENSG00000124279; Expressed in oocyte and 198 other cell types or tissues.
DR ExpressionAtlas; Q14CZ7; baseline and differential.
DR Genevisible; Q14CZ7; HS.
DR GO; GO:0005759; C:mitochondrial matrix; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0035770; C:ribonucleoprotein granule; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IDA:UniProtKB.
DR GO; GO:0000963; P:mitochondrial RNA processing; IBA:GO_Central.
DR GO; GO:0070131; P:positive regulation of mitochondrial translation; IDA:UniProtKB.
DR GO; GO:0044528; P:regulation of mitochondrial mRNA stability; IDA:UniProtKB.
DR InterPro; IPR013579; FAST_2.
DR InterPro; IPR010622; FAST_Leu-rich.
DR InterPro; IPR013584; RAP.
DR PANTHER; PTHR21228:SF9; FAST KINASE DOMAIN-CONTAINING PROTEIN 3, MITOCHONDRIAL; 1.
DR PANTHER; PTHR21228; FAST LEU-RICH DOMAIN-CONTAINING; 1.
DR Pfam; PF06743; FAST_1; 1.
DR Pfam; PF08368; FAST_2; 1.
DR Pfam; PF08373; RAP; 1.
DR SMART; SM00952; RAP; 1.
DR PROSITE; PS51286; RAP; 1.
PE 1: Evidence at protein level;
KW Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..?
FT /note="Mitochondrion"
FT /evidence="ECO:0000305"
FT CHAIN ?..662
FT /note="FAST kinase domain-containing protein 3,
FT mitochondrial"
FT /id="PRO_0000284715"
FT DOMAIN 591..649
FT /note="RAP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00619"
FT VARIANT 3
FT /note="L -> F (in dbSNP:rs3733782)"
FT /id="VAR_057769"
FT VARIANT 22
FT /note="L -> V (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036161"
FT VARIANT 56
FT /note="K -> R (in dbSNP:rs2966952)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031809"
FT VARIANT 459
FT /note="E -> G (in dbSNP:rs16879259)"
FT /id="VAR_031810"
SQ SEQUENCE 662 AA; 75689 MW; CE7474BC2E492D48 CRC64;
MALITLRKNL YRLSDFQMHR ALAALKNKPL NHVHKVVKER LCPWLCSRQP EPFGVKFHHA
HCKKFHSKNG NDLHPLGGPV FSQVSDCDRL EQNVKNEESQ MFYRRLSNLT SSEEVLSFIS
TMETLPDTMA AGALQRICEV EKKDGDQGLP KEILENSIFQ ALCFQFEKEP SQLSNTSLVT
ALQALILLHV DPQSSLLLNL VAECQNRLRK GGMEVRNLCI LGESLITLHS SGCVTLELII
NQLQGEKLET FTPEDIVALY RILQACTEKV DEHQTFLNKI NNFSLSIVSN LSPKLISQML
TALVVLDQSQ AFPLIIKLGK YVVRHVPHFT NEELRRVLEA FIYFGHHDTF FTKALEHRVA
AVCLTLDPEV VCRVMEYCSR ELILSKPILN AVAETFVCQT EKFSPRQISA LMEPFGKLNY
LPPNASALFR KLENVLFTHF NYFPPKSLLK LLHSCSLNEC HPVNFLAKIF KPLFLQRLQG
KESHLDTLSR AQLTQLFLAS VLECPFYKGP KLLPKYQVKS FLTPCCSLET PVDSQLYRYV
KIGLTNLLGA RLYFAPKVLT PYCYTIDVEI KLDEEGFVLP STANEDIHKR IALCIDGPKR
FCSNSKHLLG KEAIKQRHLQ LLGYQVVQIP YHEIGMLKSR RELVEYLQRK LFSQNTVHWL
QE
//
