LOCUS       NM_003849               1270 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens succinate-CoA ligase GDP/ADP-forming subunit alpha
            (SUCLG1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003849
VERSION     NM_003849.4
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 1270)
  AUTHORS   Yan,W., Xie,C., Sun,S., Zheng,Q., Wang,J., Wang,Z., Man,C.H.,
            Wang,H., Yang,Y., Wang,T., Shi,L., Zhang,S., Huang,C., Xu,S. and
            Wang,Y.P.
  TITLE     SUCLG1 restricts POLRMT succinylation to enhance mitochondrial
            biogenesis and leukemia progression
  JOURNAL   EMBO J 43 (12), 2337-2367 (2024)
   PUBMED   38649537
  REMARK    GeneRIF: SUCLG1 restricts POLRMT succinylation to enhance
            mitochondrial biogenesis and leukemia progression.
REFERENCE   2  (bases 1 to 1270)
  AUTHORS   Chen,Y.M., Chen,W., Xu,Y., Lu,C.S., Zhu,M.M., Sun,R.Y., Wang,Y.,
            Chen,Y., Shi,J. and Wang,D.
  TITLE     Novel compound heterozygous SUCLG1 variants may contribute to
            mitochondria DNA depletion syndrome-9
  JOURNAL   Mol Genet Genomic Med 10 (9), e2010 (2022)
   PUBMED   35762302
REFERENCE   3  (bases 1 to 1270)
  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 1270)
  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   5  (bases 1 to 1270)
  AUTHORS   Huang,J. and Fraser,M.E.
  TITLE     Tartryl-CoA inhibits succinyl-CoA synthetase
  JOURNAL   Acta Crystallogr F Struct Biol Commun 76 (Pt 7), 302-308 (2020)
   PUBMED   32627745
REFERENCE   6  (bases 1 to 1270)
  AUTHORS   Ostergaard,E.
  TITLE     Disorders caused by deficiency of succinate-CoA ligase
  JOURNAL   J Inherit Metab Dis 31 (2), 226-229 (2008)
   PUBMED   18392745
  REMARK    Review article
REFERENCE   7  (bases 1 to 1270)
  AUTHORS   Ostergaard,E., Christensen,E., Kristensen,E., Mogensen,B., Duno,M.,
            Shoubridge,E.A. and Wibrand,F.
  TITLE     Deficiency of the alpha subunit of succinate-coenzyme A ligase
            causes fatal infantile lactic acidosis with mitochondrial DNA
            depletion
  JOURNAL   Am J Hum Genet 81 (2), 383-387 (2007)
   PUBMED   17668387
REFERENCE   8  (bases 1 to 1270)
  AUTHORS   Lambeth,D.O., Tews,K.N., Adkins,S., Frohlich,D. and Milavetz,B.I.
  TITLE     Expression of two succinyl-CoA synthetases with different
            nucleotide specificities in mammalian tissues
  JOURNAL   J Biol Chem 279 (35), 36621-36624 (2004)
   PUBMED   15234968
REFERENCE   9  (bases 1 to 1270)
  AUTHORS   James,M., Man,N.T., Edwards,Y.H. and Morris,G.E.
  TITLE     The molecular basis for cross-reaction of an anti-dystrophin
            antibody with alpha-actinin
  JOURNAL   Biochim Biophys Acta 1360 (2), 169-176 (1997)
   PUBMED   9128182
REFERENCE   10 (bases 1 to 1270)
  AUTHORS   El-Hattab,A.W. and Scaglia,F.
  TITLE     SUCLG1-Related Mitochondrial DNA Depletion Syndrome,
            Encephalomyopathic Form with Methylmalonic Aciduria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28358460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP194715.1, BC000504.2,
            AC096770.3 and BQ774501.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003849.3.
            
            Summary: This gene encodes the alpha subunit of the heterodimeric
            enzyme succinate coenzyme A ligase. This enzyme is targeted to the
            mitochondria and catalyzes the conversion of succinyl CoA and ADP
            or GDP to succinate and ATP or GTP. Mutations in this gene are the
            cause of the metabolic disorder fatal infantile lactic acidosis and
            mitochondrial DNA depletion. [provided by RefSeq, Feb 2010].
            
            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 :: SRR5189652.108926.1,
                                           SRR5189655.194468.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000393868.7/
                                                  ENSP00000377446.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BP194715.1         184-198
            16-1214             BC000504.2         1-1199
            1215-1215           AC096770.3         8981-8981           c
            1216-1270           BQ774501.1         24-78               c
FEATURES             Location/Qualifiers
     source          1..1270
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..1270
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /note="succinate-CoA ligase GDP/ADP-forming subunit alpha"
                     /db_xref="GeneID:8802"
                     /db_xref="HGNC:HGNC:11449"
                     /db_xref="MIM:611224"
     exon            1..108
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..1052
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /EC_number="6.2.1.4"
                     /EC_number="6.2.1.5"
                     /note="mitochondrial succinate--CoA ligase
                     [ADP/GDP-forming] subunit alpha; succinyl-CoA ligase
                     [GDP-forming] subunit alpha, mitochondrial; succinate-CoA
                     ligase alpha subunit; SCS-alpha; succinyl-CoA synthetase
                     subunit alpha; succinyl-CoA ligase [ADP/GDP-forming]
                     subunit alpha, mitochondrial; succinate--CoA ligase
                     [ADP/GDP-forming] subunit alpha, mitochondrial"
                     /codon_start=1
                     /product="succinate--CoA ligase [ADP/GDP-forming] subunit
                     alpha, mitochondrial precursor"
                     /protein_id="NP_003840.2"
                     /db_xref="CCDS:CCDS1967.2"
                     /db_xref="GeneID:8802"
                     /db_xref="HGNC:HGNC:11449"
                     /db_xref="MIM:611224"
                     /translation="MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYT
                     ASRQHLYVDKNTKIICQGFTGKQGTFHSQQALEYGTKLVGGTTPGKGGQTHLGLPVFN
                     TVKEAKEQTGATASVIYVPPPFAAAAINEAIEAEIPLVVCITEGIPQQDMVRVKHKLL
                     RQEKTRLIGPNCPGVINPGECKIGIMPGHIHKKGRIGIVSRSGTLTYEAVHQTTQVGL
                     GQSLCVGIGGDPFNGTDFIDCLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSG
                     PNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMSPAQLGT
                     TIYKEFEKRKML"
     exon            109..212
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            213..329
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            330..542
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            543..600
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            601..684
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            685..836
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            837..1025
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1270
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1247..1252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /note="hexamer: AATAAA"
     polyA_site      1270
                     /gene="SUCLG1"
                     /gene_synonym="GALPHA; MTDPS9; SUCLA1"
                     /note="major polyA site"
ORIGIN      
        1 gtcattggcg tatgaccgca acccttgccg ctgccgctga catcgctacc atggtctccg
       61 gcagcagcgg cctcgccgcc gcccgtctcc tgtcgcgcag cttcctcctg ccgcagaatg
      121 gaattcggca ttgttcctac acagcttctc ggcaacatct ctatgttgat aaaaatacaa
      181 agattatttg ccagggtttc actggcaaac agggcacctt tcacagccag caggcattgg
      241 aatatggcac caaactcgtt ggaggaacca ctccagggaa aggaggccag acacatctgg
      301 gcttacctgt ctttaatact gtgaaggagg ccaaagaaca gacaggagca acggcttctg
      361 tcatttatgt tcctccgcct tttgctgctg ctgccattaa tgaagctatt gaggcagaaa
      421 ttcccttggt tgtgtgtatc actgaaggaa ttccccagca ggacatggta cgagtcaagc
      481 acaaactgct gcgccaggaa aagacaaggc taattgggcc caactgccct ggagtcatca
      541 atcctggaga atgtaaaatt ggcatcatgc ctggccatat tcacaaaaaa ggaaggattg
      601 gcattgtgtc cagatctggc accctgactt atgaagcagt tcaccaaaca acgcaagttg
      661 gattggggca gtctttgtgc gttggcattg gaggtgatcc ttttaatgga acagatttta
      721 ttgactgcct cgaaatcttt ttgaacgatt ctgccacaga aggcatcata ttgattggtg
      781 aaattggtgg taatgcagaa gagaatgctg cagaattttt gaagcaacat aattcaggtc
      841 caaattccaa gcctgtagtg tccttcattg ctggtttaac tgctcctcct gggagaagaa
      901 tgggtcatgc cggggcaatt attgctggag gaaaaggtgg agctaaagag aagatctctg
      961 cccttcagag tgcaggagtt gtggtcagta tgtctcctgc acagctggga accacgatct
     1021 acaaggaatt tgaaaagagg aagatgctat gaaagaaaaa aaaaattcct aaaactgtgg
     1081 aatggatcac gtagacatgt aacccagcag cagtttgctt ctgttgtcca ctgattaatc
     1141 agcctatgtg cctgacactg gtcttgcagt acaactggaa gccaaaacaa ggtggaagat
     1201 gtcctgaatt aagatgtttt caccacattg tattacagag acagccaata aatctactat
     1261 ttgatttcaa
//
