LOCUS       NM_001375260            1302 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2),
            transcript variant 11, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_001375260
VERSION     NM_001375260.1
KEYWORDS    RefSeq.
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 1302)
  AUTHORS   Li,B., Liu,F., Chen,X., Chen,T., Zhang,J., Liu,Y., Yao,Y., Hu,W.,
            Zhang,M., Wang,B., Liu,L., Chen,K. and Wu,Y.
  TITLE     FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial
            Homeostasis and the Mitochondrial Quality Control System
  JOURNAL   Circulation 149 (16), 1268-1284 (2024)
   PUBMED   38362779
  REMARK    GeneRIF: FARS2 Deficiency Causes Cardiomyopathy by Disrupting
            Mitochondrial Homeostasis and the Mitochondrial Quality Control
            System.
REFERENCE   2  (bases 1 to 1302)
  AUTHORS   Li,L., Ma,J., Wang,J., Dong,L. and Liu,S.
  TITLE     Two Chinese siblings of combined oxidative phosphorylation
            deficiency 14 caused by compound heterozygous variants in FARS2
  JOURNAL   Eur J Med Res 27 (1), 184 (2022)
   PUBMED   36155627
  REMARK    GeneRIF: Two Chinese siblings of combined oxidative phosphorylation
            deficiency 14 caused by compound heterozygous variants in FARS2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1302)
  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   4  (bases 1 to 1302)
  AUTHORS   Roux,C.J., Barcia,G., Schiff,M., Sissler,M., Levy,R.,
            Dangouloff-Ros,V., Desguerre,I., Edvardson,S., Elpeleg,O.,
            Rotig,A., Munnich,A. and Boddaert,N.
  TITLE     Phenotypic diversity of brain MRI patterns in mitochondrial
            aminoacyl-tRNA synthetase mutations
  JOURNAL   Mol Genet Metab 133 (2), 222-229 (2021)
   PUBMED   33972171
  REMARK    GeneRIF: Phenotypic diversity of brain MRI patterns in
            mitochondrial aminoacyl-tRNA synthetase mutations.
REFERENCE   5  (bases 1 to 1302)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1302)
  AUTHORS   Klipcan,L., Levin,I., Kessler,N., Moor,N., Finarov,I. and Safro,M.
  TITLE     The tRNA-induced conformational activation of human mitochondrial
            phenylalanyl-tRNA synthetase
  JOURNAL   Structure 16 (7), 1095-1104 (2008)
   PUBMED   18611382
  REMARK    GeneRIF: Formation of the PheRS-tRNAPhe complex in human
            mitochondria must be accompanied by considerable rearrangement of
            the anticodon binding domain upon tRNA binding.
REFERENCE   7  (bases 1 to 1302)
  AUTHORS   Levin,I., Kessler,N., Moor,N., Klipcan,L., Koc,E., Templeton,P.,
            Spremulli,L. and Safro,M.
  TITLE     Purification, crystallization and preliminary X-ray
            characterization of a human mitochondrial phenylalanyl-tRNA
            synthetase
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 63 (Pt 9), 761-764
            (2007)
   PUBMED   17768348
  REMARK    GeneRIF: The recombinant human enzyme has been purified to
            homogeneity and crystallized in complex with phenylalanine and ATP.
REFERENCE   8  (bases 1 to 1302)
  AUTHORS   Bonnefond,L., Fender,A., Rudinger-Thirion,J., Giege,R., Florentz,C.
            and Sissler,M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
REFERENCE   9  (bases 1 to 1302)
  AUTHORS   Bullard,J.M., Cai,Y.C., Demeler,B. and Spremulli,L.L.
  TITLE     Expression and characterization of a human mitochondrial
            phenylalanyl-tRNA synthetase
  JOURNAL   J Mol Biol 288 (4), 567-577 (1999)
   PUBMED   10329163
REFERENCE   10 (bases 1 to 1302)
  AUTHORS   Almannai,M., Faqeih,E., El-Hattab,A.W. and Wong,L.J.C.
  TITLE     FARS2 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30869852
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121978.5, AL590868.10,
            AL392184.7, AL022097.1 and AL133473.5.
            
            Summary: This gene encodes a protein that transfers phenylalanine
            to its cognate tRNA. This protein localizes to the mitochondrion
            and plays a role in mitochondrial protein translation. Mutations in
            this gene can cause combined oxidative phosphorylation deficiency
            14 (Alpers encephalopathy). Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.75981.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AL121978.5         35996-36143
            149-404             AL590868.10        24731-24986
            405-564             AL590868.10        32640-32799
            565-696             AL590868.10        59139-59270
            697-857             AL392184.7         9387-9547
            858-1009            AL022097.1         34584-34735
            1010-1302           AL133473.5         43666-43958
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     gene            1..1302
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /note="phenylalanyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:10667"
                     /db_xref="HGNC:HGNC:21062"
                     /db_xref="MIM:611592"
     exon            1..148
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     exon            149..404
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     exon            405..564
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     CDS             489..1148
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /EC_number="6.1.1.20"
                     /note="isoform 3 is encoded by transcript variant 11;
                     phenylalanine-tRNA synthetase 1 (mitochondrial);
                     phenylalanine tRNA ligase 2, mitochondrial; phenylalanine
                     translase; dJ236A3.1 (phenylalanine-tRNA synthetase);
                     dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase));
                     mitochondrial PHERS"
                     /codon_start=1
                     /product="phenylalanine--tRNA ligase, mitochondrial
                     isoform 3"
                     /protein_id="NP_001362189.1"
                     /db_xref="GeneID:10667"
                     /db_xref="HGNC:HGNC:21062"
                     /db_xref="MIM:611592"
                     /translation="MEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFE
                     MEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWC
                     EDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDL
                     VEKVDLIDKFVHPKTHKTSHCYRITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGR
                     F"
     exon            565..696
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     exon            697..857
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     exon            858..1009
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1302
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1278..1283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /note="hexamer: AATAAA"
     polyA_site      1302
                     /gene="FARS2"
                     /gene_synonym="COXPD14; FARS1; HSPC320; mtPheRS; PheRS;
                     SPG77"
                     /note="major polyA site"
ORIGIN      
        1 aggcccgctt tctgtcaaaa tggcagcgcc cagcgtgcgc gggtatctct gaagttgggg
       61 tttaagattc ttgcccgtga gagcgaacga gcctgccgta cttctgattt tgaaacacct
      121 gggtctgggc ttcccgggcg agcggtgggc tcaccgaaag tgacagaact tcccaaggga
      181 gaggggagaa aatggaagga actgagcgcc aggagcagtg agctgacatg aagcgtgtgg
      241 aggtgctaca gctgctgtca gcagcagggc agctgagcga tcaggcctct tggtagtagt
      301 ggcaagatgg ggaagtcaaa cctgggcccc tcaccttcac ctcttcaaga gcggtaaatt
      361 ggttccaggg ctgttgctgc cctggttaca cacagtcttt gaagttattt gctggtataa
      421 aggatggaga aagcctgcag ctctttgaac aaagttctcg ctctgcgcat aaacaagaga
      481 cacacaccat ggaggccgtg aagcttgtag agtttgatct taagcaaacg cttaccaggc
      541 tcatggcaca tctttttgga gatgagctgg agataagatg ggtagactgc tacttccctt
      601 ttacacatcc ttcctttgag atggagatca actttcatgg agaatggctg gaagttcttg
      661 gctgcggggt gatggaacaa caactggtca attcagctgg tgctcaagac cgaatcggct
      721 gggcttttgg cctaggatta gaaaggctag ccatgatcct ctacgacatc cctgatatcc
      781 gtctcttctg gtgtgaggac gagcgcttcc tgaagcagtt ctgtgtatcc aacattaatc
      841 agaaggtgaa gtttcagcct cttagcaaat atccggctgt gatcaatgat atttcattct
      901 ggttgccctc tgagaattac gcagaaaatg atttctatga cttagtccga acaattggag
      961 gagacctggt ggaaaaggtt gatctcatag acaagtttgt acatccaaag acgcacaaga
     1021 ccagccactg ctaccgcatc acgtaccgcc acatggaacg gactctgtcc cagagagagg
     1081 tcaggcacat ccaccaggcc ttgcaggagg ctgcagtcca gctgttgggt gtggagggca
     1141 ggttctgatg tcaccacttc actcaggctg cagccctctt ggggctccag gatttgctga
     1201 aagagaaaaa gatatggttt gtgaactggg gcatcaatca tcttttgata aatggatcag
     1261 ttttaggact ttcagaaaat aaaagatcgc tcttgaaaag ct
//
