LOCUS       NM_003850               2111 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens succinate-CoA ligase ADP-forming subunit beta
            (SUCLA2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003850
VERSION     NM_003850.3
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 2111)
  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 2111)
  AUTHORS   Tong,Y., Guo,D., Lin,S.H., Liang,J., Yang,D., Ma,C., Shao,F.,
            Li,M., Yu,Q., Jiang,Y., Li,L., Fang,J., Yu,R. and Lu,Z.
  TITLE     SUCLA2-coupled regulation of GLS succinylation and activity
            counteracts oxidative stress in tumor cells
  JOURNAL   Mol Cell 81 (11), 2303-2316 (2021)
   PUBMED   33991485
  REMARK    GeneRIF: SUCLA2-coupled regulation of GLS succinylation and
            activity counteracts oxidative stress in tumor cells.
REFERENCE   3  (bases 1 to 2111)
  AUTHORS   Alkhater,R.A., Ahonen,S. and Minassian,B.A.
  TITLE     SUCLA2 Arg407Trp mutation can cause a nonprogressive movement
            disorder - deafness syndrome
  JOURNAL   Ann Clin Transl Neurol 8 (1), 252-258 (2021)
   PUBMED   33231368
  REMARK    GeneRIF: SUCLA2 Arg407Trp mutation can cause a nonprogressive
            movement disorder - deafness syndrome.
REFERENCE   4  (bases 1 to 2111)
  AUTHORS   Gut,P., Matilainen,S., Meyer,J.G., Pallijeff,P., Richard,J.,
            Carroll,C.J., Euro,L., Jackson,C.B., Isohanni,P., Minassian,B.A.,
            Alkhater,R.A., Ostergaard,E., Civiletto,G., Parisi,A., Thevenet,J.,
            Rardin,M.J., He,W., Nishida,Y., Newman,J.C., Liu,X., Christen,S.,
            Moco,S., Locasale,J.W., Schilling,B., Suomalainen,A. and Verdin,E.
  TITLE     SUCLA2 mutations cause global protein succinylation contributing to
            the pathomechanism of a hereditary mitochondrial disease
  JOURNAL   Nat Commun 11 (1), 5927 (2020)
   PUBMED   33230181
  REMARK    GeneRIF: SUCLA2 mutations cause global protein succinylation
            contributing to the pathomechanism of a hereditary mitochondrial
            disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2111)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2111)
  AUTHORS   Cox,T.C., Sadlon,T.J., Schwarz,Q.P., Matthews,C.S., Wise,P.D.,
            Cox,L.L., Bottomley,S.S. and May,B.K.
  TITLE     The major splice variant of human 5-aminolevulinate synthase-2
            contributes significantly to erythroid heme biosynthesis
  JOURNAL   Int J Biochem Cell Biol 36 (2), 281-295 (2004)
   PUBMED   14643893
REFERENCE   7  (bases 1 to 2111)
  AUTHORS   Furuyama,K. and Sassa,S.
  TITLE     Interaction between succinyl CoA synthetase and the
            heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic
            anemia
  JOURNAL   J Clin Invest 105 (6), 757-764 (2000)
   PUBMED   10727444
REFERENCE   8  (bases 1 to 2111)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   9  (bases 1 to 2111)
  AUTHORS   Johnson,J.D., Mehus,J.G., Tews,K., Milavetz,B.I. and Lambeth,D.O.
  TITLE     Genetic evidence for the expression of ATP- and GTP-specific
            succinyl-CoA synthetases in multicellular eucaryotes
  JOURNAL   J Biol Chem 273 (42), 27580-27586 (1998)
   PUBMED   9765291
REFERENCE   10 (bases 1 to 2111)
  AUTHORS   El-Hattab,A.W. and Scaglia,F.
  TITLE     SUCLA2-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   20301762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157369.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_003850.2.
            
            Summary: Succinyl-CoA synthetase (SCS) is a mitochondrial matrix
            enzyme that acts as a heterodimer, being composed of an invariant
            alpha subunit and a substrate-specific beta subunit. The protein
            encoded by this gene is an ATP-specific SCS beta subunit that
            dimerizes with the SCS alpha subunit to form SCS-A, an essential
            component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to
            convert succinate to succinyl-CoA. Defects in this gene are a cause
            of myopathic mitochondrial DNA depletion syndrome. A pseudogene of
            this gene has been found on chromosome 6. [provided by RefSeq, Jul
            2008].
            
            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 :: AB035863.1, BC027587.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000646932.1/
                                                  ENSP00000494360.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-94                AL157369.7         69632-69725         c
            95-275              AL157369.7         65294-65474         c
            276-375             AL157369.7         57333-57432         c
            376-538             AL157369.7         56992-57154         c
            539-667             AL157369.7         41715-41843         c
            668-806             AL157369.7         37046-37184         c
            807-968             AL157369.7         22847-23008         c
            969-1111            AL157369.7         22591-22733         c
            1112-1232           AL157369.7         17934-18054         c
            1233-1321           AL157369.7         17391-17479         c
            1322-2111           AL157369.7         11107-11896         c
FEATURES             Location/Qualifiers
     source          1..2111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..2111
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /note="succinate-CoA ligase ADP-forming subunit beta"
                     /db_xref="GeneID:8803"
                     /db_xref="HGNC:HGNC:11448"
                     /db_xref="MIM:603921"
     exon            1..94
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     CDS             5..1396
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /EC_number="6.2.1.5"
                     /note="succinyl-CoA ligase [ADP-forming] subunit beta,
                     mitochondrial; ATP-specific succinyl-CoA synthetase, beta
                     subunit; renal carcinoma antigen NY-REN-39; succinate-CoA
                     ligase beta subunit; mitochondrial succinyl-CoA ligase
                     [ADP-forming] subunit beta; succinyl-CoA synthetase beta-A
                     chain; ATP-specific succinyl-CoA synthetase subunit beta;
                     succinate--CoA ligase [ADP-forming] subunit beta,
                     mitochondrial; succinate-CoA ligase ADP-forming beta
                     subunit; long intergenic non-protein coding RNA 444"
                     /codon_start=1
                     /product="succinate--CoA ligase [ADP-forming] subunit
                     beta, mitochondrial precursor"
                     /protein_id="NP_003841.1"
                     /db_xref="CCDS:CCDS9406.1"
                     /db_xref="GeneID:8803"
                     /db_xref="HGNC:HGNC:11448"
                     /db_xref="MIM:603921"
                     /translation="MAASMFYGRLVAVATLRNHRPRTAQRAAAQVLGSSGLFNNHGLQ
                     VQQQQQRNLSLHEYMSMELLQEAGVSVPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVL
                     AGGRGKGTFESGLKGGVKIVFSPEEAKAVSSQMIGKKLFTKQTGEKGRICNQVLVCER
                     KYPRREYYFAITMERSFQGPVLIGSSHGGVNIEDVAAESPEAIIKEPIDIEEGIKKEQ
                     ALQLAQKMGFPPNIVESAAENMVKLYSLFLKYDATMIEINPMVEDSDGAVLCMDAKIN
                     FDSNSAYRQKKIFDLQDWTQEDERDKDAAKANLNYIGLDGNIGCLVNGAGLAMATMDI
                     IKLHGGTPANFLDVGGGATVHQVTEAFKLITSDKKVLAILVNIFGGIMRCDVIAQGIV
                     MAVKDLEIKIPVVVRLQGTRVDDAKALIADSGLKILACDDLDEAARMVVKLSEIVTLA
                     KQAHVDVKFQLPI"
     exon            95..275
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            276..375
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            376..538
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            539..667
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            668..806
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            807..968
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1111
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1232
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1321
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..2111
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2091..2096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /note="hexamer: AATAAA"
     polyA_site      2111
                     /gene="SUCLA2"
                     /gene_synonym="A-BETA; A-SCS; LINC00444; MTDPS5;
                     SCS-betaA"
                     /note="major polyA site"
ORIGIN      
        1 agaaatggcg gcctccatgt tctacggcag gctagtggcc gtggccaccc ttcggaacca
       61 ccggcctcgg acggcccagc gggctgctgc tcaggttctg ggaagttctg gattgtttaa
      121 taaccatgga ctccaagtac agcagcaaca gcaaaggaat ctctcactac atgaatacat
      181 gagtatggaa ttattgcaag aagctggtgt ctccgttccc aaaggatatg tggcaaagtc
      241 accagatgaa gcttatgcaa ttgccaaaaa attaggttca aaagatgtcg tgataaaggc
      301 acaggtttta gctggtggta gaggaaaagg aacatttgaa agtggcctca aaggaggagt
      361 gaagatagtt ttctctccag aagaagcaaa agctgtttct tcacaaatga ttgggaaaaa
      421 attgtttacc aagcaaacgg gagaaaaggg cagaatatgc aatcaagtat tggtctgtga
      481 gcgaaaatat cccaggagag aatactactt tgcaataaca atggaaaggt catttcaagg
      541 tcctgtatta ataggaagtt cacatggtgg tgtcaacatt gaagatgttg ctgctgagtc
      601 tcctgaagca ataattaaag aacctattga tattgaagaa ggcatcaaaa aggaacaagc
      661 tctccagctt gcacagaaga tgggatttcc acctaatatt gtggaatcag cagcagaaaa
      721 catggtcaag ctttacagcc tttttctgaa atacgatgca accatgatag aaataaatcc
      781 aatggtggaa gattcagatg gagctgtatt gtgtatggat gcaaagatca attttgactc
      841 taattcagcc tatcgccaaa agaaaatctt tgatctacag gactggaccc aggaagatga
      901 aagggacaaa gatgctgcta aggcaaatct caactacatt ggcctcgatg gaaatatagg
      961 ctgcctagta aatggtgctg gtttggctat ggccacaatg gatataataa aacttcatgg
     1021 agggactcca gccaacttcc ttgatgttgg tggtggtgct acagtccatc aagtaacaga
     1081 agcatttaag cttatcactt cagataaaaa ggtactggct attctggtca acatttttgg
     1141 aggaatcatg cgctgtgatg ttattgcaca gggtatagtc atggcagtaa aagacttgga
     1201 aattaaaata cctgttgtgg tacggttaca aggtacacga gtcgatgatg ctaaggcact
     1261 gatagcggac agtggactta aaatacttgc ttgtgatgac ttggatgaag ctgctagaat
     1321 ggttgtaaag ctctctgaaa tagtgacctt agcgaagcaa gcacatgtgg atgtgaaatt
     1381 tcagttgcca atatgatctg aaaacccagt ggatggctga aggtgttaaa tgtgctataa
     1441 tcattaagaa tactgtgttc tgtgttattg ttctttttct ttttagtgtg tggagattgt
     1501 aattgccatc taggcacaca aacatttaaa aggatttgga ctgcatttaa ttgtaccatt
     1561 cagaatggac tgtttgtacg aagcatgtat aatgcagtta tcttctttct tttgtcgcag
     1621 ccagtctttt ttgcttctcc tacaaaacgt aacttgcaat ttgccagttt attattgttg
     1681 gatacaaagt tcttcattga taagagtcct ataaataaga taaatacgaa gataaagctt
     1741 tattctttag tgttaaaata cagtatatct aataactagc ctcattagta gagcagtata
     1801 ttaaaacaat gttttatgta aaaagtgttt atcttcagca ccaaatacat gataaatgta
     1861 tcaatcacta tttataaaca gagctttcaa acactcctca gaatattctt ctaagtattt
     1921 tgatgaagta actttgtaat tatttgaaca ttgttttaat cattaggaaa cactgattaa
     1981 ctgcaagtct tcatgattct gtcatattaa gaaacacctg taggtttgct tcaaataaag
     2041 gcatatatac caaggactta cagacaaaat taagaatgtc aatttaagtt aataaaaatc
     2101 tcccaatatg a
//
