LOCUS       NM_024091               2431 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_024091
VERSION     NM_024091.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2431)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2431)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2431)
  AUTHORS   Jourdain,A.A., Popow,J., de la Fuente,M.A., Martinou,J.C.,
            Anderson,P. and Simarro,M.
  TITLE     The FASTK family of proteins: emerging regulators of mitochondrial
            RNA biology
  JOURNAL   Nucleic Acids Res 45 (19), 10941-10947 (2017)
   PUBMED   29036396
  REMARK    GeneRIF: Despite the fact that proteins of the FASTK family
            FASTKD1-5 share the same domains, they exhibit various-sometimes
            opposing-functions in almost all steps of mitochondrial RNA
            metabolism.
            Review article
REFERENCE   4  (bases 1 to 2431)
  AUTHORS   Boehm,E., Zornoza,M., Jourdain,A.A., Delmiro Magdalena,A.,
            Garcia-Consuegra,I., Torres Merino,R., Orduna,A., Martin,M.A.,
            Martinou,J.C., De la Fuente,M.A. and Simarro,M.
  TITLE     Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional
            Regulation of Mitochondrial Gene Expression
  JOURNAL   J Biol Chem 291 (50), 25877-25887 (2016)
   PUBMED   27789713
  REMARK    GeneRIF: FASTKD3 is required for efficient COX1 mRNA translation
            without altering mRNA levels, which results in a decrease in the
            steady-state levels of COX1 protein.
REFERENCE   5  (bases 1 to 2431)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (bases 1 to 2431)
  AUTHORS   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. and Anderson,P.
  TITLE     Fast kinase domain-containing protein 3 is a mitochondrial protein
            essential for cellular respiration
  JOURNAL   Biochem Biophys Res Commun 401 (3), 440-446 (2010)
   PUBMED   20869947
  REMARK    GeneRIF: these results introduce FASTKD3 as an essential component
            of mitochondrial respiration that may modulate energy balance in
            cells exposed to adverse conditions by functionally coupling
            mitochondrial protein synthesis to respiration.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA297400.1, AK026927.1,
            BQ921348.1, BP317791.1 and BC001295.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_024091.3.
            
            Summary: This gene encodes a member of a small family of
            Fas-activated serine/threonine kinase domain (FASTKD) containing
            proteins that share an amino terminal mitochondrial targeting
            domain and multiple carboxy terminal FAST domains as well as a
            putative RNA-binding RAP domain. The members of this family are
            ubiquitously expressed and are generally most abundant in
            mitochondria-enriched tissues such as heart, skeletal muscle and
            brown-adipose tissue. Some members of this protein family may play
            a role in apoptosis. The protein encoded by this gene interacts
            with components of the mitochondrial respiratory and translation
            networks. A pseudogene of this gene is also present on chromosome
            5. Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) is the longest transcript and
            encodes the protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026927.1, SRR1660809.18992.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20869947
            MANE Ensembl match                 :: ENST00000264669.10/
                                                  ENSP00000264669.5
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                DA297400.1         7-35
            30-332              AK026927.1         1-303
            333-797             BQ921348.1         296-760
            798-1395            AK026927.1         769-1366
            1396-1567           BP317791.1         342-513
            1568-2268           AK026927.1         1539-2239
            2269-2431           BC001295.1         1767-1929
FEATURES             Location/Qualifiers
     source          1..2431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.31"
     gene            1..2431
                     /gene="FASTKD3"
                     /note="FAST kinase domains 3"
                     /db_xref="GeneID:79072"
                     /db_xref="HGNC:HGNC:28758"
                     /db_xref="MIM:617530"
     exon            1..53
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            54..1604
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..2155
                     /gene="FASTKD3"
                     /codon_start=1
                     /product="FAST kinase domain-containing protein 3,
                     mitochondrial"
                     /protein_id="NP_076996.2"
                     /db_xref="CCDS:CCDS3873.1"
                     /db_xref="GeneID:79072"
                     /db_xref="HGNC:HGNC:28758"
                     /db_xref="MIM:617530"
                     /translation="MALITLRKNLYRLSDFQMHRALAALKNKPLNHVHKVVKERLCPW
                     LCSRQPEPFGVKFHHAHCKKFHSKNGNDLHPLGGPVFSQVSDCDRLEQNVKNEESQMF
                     YRRLSNLTSSEEVLSFISTMETLPDTMAAGALQRICEVEKKDGDQGLPKEILENSIFQ
                     ALCFQFEKEPSQLSNTSLVTALQALILLHVDPQSSLLLNLVAECQNRLRKGGMEVRNL
                     CILGESLITLHSSGCVTLELIINQLQGEKLETFTPEDIVALYRILQACTEKVDEHQTF
                     LNKINNFSLSIVSNLSPKLISQMLTALVVLDQSQAFPLIIKLGKYVVRHVPHFTNEEL
                     RRVLEAFIYFGHHDTFFTKALEHRVAAVCLTLDPEVVCRVMEYCSRELILSKPILNAV
                     AETFVCQTEKFSPRQISALMEPFGKLNYLPPNASALFRKLENVLFTHFNYFPPKSLLK
                     LLHSCSLNECHPVNFLAKIFKPLFLQRLQGKESHLDTLSRAQLTQLFLASVLECPFYK
                     GPKLLPKYQVKSFLTPCCSLETPVDSQLYRYVKIGLTNLLGARLYFAPKVLTPYCYTI
                     DVEIKLDEEGFVLPSTANEDIHKRIALCIDGPKRFCSNSKHLLGKEAIKQRHLQLLGY
                     QVVQIPYHEIGMLKSRRELVEYLQRKLFSQNTVHWLQE"
     exon            1605..1690
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1691..1865
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..1935
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2050
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2431
                     /gene="FASTKD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FASTKD3"
                     /note="hexamer: AATAAA"
     polyA_site      2431
                     /gene="FASTKD3"
                     /note="major polyA site"
ORIGIN      
        1 acgacgccca ggcgcttccg cgaccacccg gagtgattgc ccggcagagc gcgatactcg
       61 tttgtagttt cataaacatt gatgttgggt caatcatgtt ctcaatgtat ttaaccatgt
      121 gtttttaaat tttttaattt agttatcaaa ttgagaatct gatggtatgg cattaatcac
      181 cttgaggaag aacctttatc gtttatctga ttttcagatg catagagctc tggctgcttt
      241 aaaaaataaa cctctaaatc atgttcacaa ggtagtcaag gagcgtctgt gcccttggtt
      301 gtgttcacga caacctgagc ctttcggggt caaattccat catgcccatt gtaaaaagtt
      361 tcattcgaaa aatggaaatg accttcatcc actcggtgga ccagtgttct ctcaagtatc
      421 tgactgcgac aggcttgaac aaaatgttaa aaatgaggag agtcagatgt tttacaggag
      481 actgagcaac ttgacttcat cagaagaagt gctaagtttt ataagcacga tggaaaccct
      541 gcctgacact atggcagcag gagctttaca acgaatttgt gaagtggaaa aaaaggatgg
      601 tgatcaaggg ctgccaaaag aaatactgga gaatagcatc tttcaagctt tatgctttca
      661 gtttgaaaag gagccctcac agctgtcaaa cactagttta gtgactgctt tgcaagctct
      721 gattctgttg catgtggatc ctcaaagtag cctgttgctg aacctggtgg cagaatgcca
      781 aaatcgtctc agaaaaggtg gcatggaagt tcgcaatctt tgtattcttg gggaaagtct
      841 gattacactg cacagttcag gttgtgtgac actagaactc attataaatc aacttcaagg
      901 tgaaaaattg gaaacattta ccccggagga tattgtggcc ctttatagaa tcttgcaggc
      961 atgtactgaa aaagtggatg aacaccaaac atttttaaat aagataaaca acttttccct
     1021 atcaatagtt tccaacctga gtcctaaatt gattagccaa atgctcactg ccctggtggt
     1081 tcttgatcaa agtcaagcat ttcctctgat tataaaattg ggcaaatatg tcgtgaggca
     1141 tgtcccacat ttcactaacg aggagcttag gagagtcttg gaggcgttca tatattttgg
     1201 gcaccatgac acatttttta caaaagccct agagcatcgt gtagctgcgg tgtgcctcac
     1261 gttggatcct gaagttgtct gcagggtcat ggagtactgc agtagagaac tgattctttc
     1321 aaaacccatc ctcaatgcag tggcagaaac ttttgtttgc caaacagaaa aattttcacc
     1381 tcgtcagatt tctgccttaa tggaaccatt tgggaaactc aattatttgc caccaaatgc
     1441 ctctgcttta tttagaaagc tggaaaacgt gctattcact catttcaatt attttccacc
     1501 caaatcatta ttgaaacttc ttcattcatg ttcacttaat gaatgccatc cagtcaactt
     1561 tctggcaaaa atattcaagc ctcttttcct tcaacggctg caaggtaaag aatctcattt
     1621 ggacacattg agtcgggcac aactgaccca acttttctta gcctcagtcc tggaatgccc
     1681 tttctataag ggtccaaaac tccttcctaa atatcaagtg aagtcatttc ttaccccatg
     1741 ctgttccctg gagacccctg tggattctca gctttataga tatgtgaaga ttgggctgac
     1801 taacctttta ggagcaagat tatattttgc tccaaaagtg ttgacaccct attgttatac
     1861 aatagatgtt gaaattaaat tagatgaaga aggatttgta ttgccatcca cagctaatga
     1921 agatatccat aaaaggatag cactgtgtat tgatggtcca aaaaggtttt gctccaatag
     1981 caaacactta ctggggaaag aagctattaa acaaagacac ctacagttac tcggttatca
     2041 agttgttcag atcccctatc atgagattgg gatgctaaaa tcaagacgtg aattggtgga
     2101 atatttacaa agaaaactgt tttctcaaaa cactgttcat tggttgcaag aatgaatact
     2161 gacttcagaa ctcaaacaat ggaagaactt gcatttttat ggaactcagt attaaaagaa
     2221 aaatataatg tgaattagcc actttgcaga atatgttcta gactggtgat ctgaaagcat
     2281 ctgtagtttt ccttatacta tgtatacatt tattgtggta aaatttaaaa ttaattttaa
     2341 tttaatacta gtgtcataga tactttttgt acatcaaaca attgatcatg tgctgtaaag
     2401 gaattcaatg aataaatgtt atttttaagt a
//
