LOCUS       NM_003001               1308 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex subunit C (SDHC),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003001
VERSION     NM_003001.5
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 1308)
  AUTHORS   Du,Z., Zhou,X., Lai,Y., Xu,J., Zhang,Y., Zhou,S., Feng,Z., Yu,L.,
            Tang,Y., Wang,W., Yu,L., Tian,C., Ran,T., Chen,H., Guddat,L.W.,
            Liu,F., Gao,Y., Rao,Z. and Gong,H.
  TITLE     Structure of the human respiratory complex II
  JOURNAL   Proc Natl Acad Sci U S A 120 (18), e2216713120 (2023)
   PUBMED   37098072
REFERENCE   2  (bases 1 to 1308)
  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   3  (bases 1 to 1308)
  AUTHORS   Daumova,M., Svajdler,M., Fabian,P., Kren,L., Babankova,I.,
            Jezova,M., Sedivcova,M., Vanecek,T., Behenska,K., Michal,M. and
            Daum,O.
  TITLE     SDHC Methylation Pattern in Patients With Carney Triad
  JOURNAL   Appl Immunohistochem Mol Morphol 29 (8), 599-605 (2021)
   PUBMED   33624983
  REMARK    GeneRIF: SDHC Methylation Pattern in Patients With Carney Triad.
REFERENCE   4  (bases 1 to 1308)
  AUTHORS   Niemann,S. and Muller,U.
  TITLE     Mutations in SDHC cause autosomal dominant paraganglioma, type 3
  JOURNAL   Nat Genet 26 (3), 268-270 (2000)
   PUBMED   11062460
REFERENCE   5  (bases 1 to 1308)
  AUTHORS   Elbehti-Green,A., Au,H.C., Mascarello,J.T., Ream-Robinson,D. and
            Scheffler,I.E.
  TITLE     Characterization of the human SDHC gene encoding of the integral
            membrane proteins of succinate-quinone oxidoreductase in
            mitochondria
  JOURNAL   Gene 213 (1-2), 133-140 (1998)
   PUBMED   9714607
REFERENCE   6  (bases 1 to 1308)
  AUTHORS   Hirawake,H., Taniwaki,M., Tamura,A., Kojima,S. and Kita,K.
  TITLE     Cytochrome b in human complex II (succinate-ubiquinone
            oxidoreductase): cDNA cloning of the components in liver
            mitochondria and chromosome assignment of the genes for the large
            (SDHC) and small (SDHD) subunits to 1q21 and 11q23
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 132-138 (1997)
   PUBMED   9533030
REFERENCE   7  (bases 1 to 1308)
  AUTHORS   Oostveen,F.G., Au,H.C., Meijer,P.J. and Scheffler,I.E.
  TITLE     A Chinese hamster mutant cell line with a defect in the integral
            membrane protein CII-3 of complex II of the mitochondrial electron
            transport chain
  JOURNAL   J Biol Chem 270 (44), 26104-26108 (1995)
   PUBMED   7592812
REFERENCE   8  (bases 1 to 1308)
  AUTHORS   Else,T., Greenberg,S. and Fishbein,L.
  TITLE     Hereditary Paraganglioma-Pheochromocytoma Syndromes
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301715
REFERENCE   9  (bases 1 to 1308)
  AUTHORS   Kita,K., Oya,H., Gennis,R.B., Ackrell,B.A. and Kasahara,M.
  TITLE     Human complex II (succinate-ubiquinone oxidoreductase): cDNA
            cloning of iron sulfur (Ip) subunit of liver mitochondria
  JOURNAL   Biochem Biophys Res Commun 166 (1), 101-108 (1990)
   PUBMED   2302193
REFERENCE   10 (bases 1 to 1308)
  AUTHORS   Mascarello,J.T., Soderberg,K. and Scheffler,I.E.
  TITLE     Assignment of a gene for succinate dehydrogenase to human
            chromosome 1 by somatic cell hybridization
  JOURNAL   Cytogenet Cell Genet 28 (1-2), 121-135 (1980)
   PUBMED   6934864
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592295.25.
            
            On Dec 3, 2019 this sequence version replaced NM_003001.4.
            
            Summary: This gene encodes one of four nuclear-encoded subunits
            that comprise succinate dehydrogenase, also known as mitochondrial
            complex II, a key enzyme complex of the tricarboxylic acid cycle
            and aerobic respiratory chains of mitochondria. The encoded protein
            is one of two integral membrane proteins that anchor other subunits
            of the complex, which form the catalytic core, to the inner
            mitochondrial membrane. There are several related pseudogenes for
            this gene on different chromosomes. Mutations in this gene have
            been associated with paragangliomas. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, May
            2013].
            
            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 :: BC020808.1, AK131051.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000367975.7/
                                                  ENSP00000356953.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AL592295.25        38049-38093
            46-102              AL592295.25        47282-47338
            103-204             AL592295.25        52064-52165
            205-266             AL592295.25        64262-64323
            267-430             AL592295.25        80345-80508
            431-1308            AL592295.25        85997-86874
FEATURES             Location/Qualifiers
     source          1..1308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1308
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /note="succinate dehydrogenase complex subunit C"
                     /db_xref="GeneID:6391"
                     /db_xref="HGNC:HGNC:10682"
                     /db_xref="MIM:602413"
     exon            1..45
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..535
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cytochrome B large subunit of complex II;
                     succinate dehydrogenase cytochrome b560 subunit,
                     mitochondrial; integral membrane protein CII-3b;
                     succinate-ubiquinone oxidoreductase cytochrome B large
                     subunit; succinate dehydrogenase 3, integral membrane
                     subunit; succinate dehydrgenase cytochrome b; succinate
                     dehydrogenase complex, subunit C, integral membrane
                     protein, 15kD; large subunit of cytochrome b; succinate
                     dehydrogenase complex subunit C integral membrane protein
                     15kDa; malate dehydrogenase [quinone] cytochrome b560
                     subunit"
                     /codon_start=1
                     /product="succinate dehydrogenase cytochrome b560 subunit,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_002992.1"
                     /db_xref="CCDS:CCDS1230.1"
                     /db_xref="GeneID:6391"
                     /db_xref="HGNC:HGNC:10682"
                     /db_xref="MIM:602413"
                     /translation="MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNK
                     NIGSNRPLSPHITIYSWSLPMAMSICHRGTGIALSAGVSLFGMSALLLPGNFESYLEL
                     VKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLGKGLKIPQLYQSGVVVLVLTV
                     LSSMGLAAM"
     exon            46..102
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            103..204
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            205..266
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            267..430
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            431..1308
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1273..1278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /note="hexamer: ATTAAA"
     polyA_site      1308
                     /gene="SDHC"
                     /gene_synonym="CYB560; CYBL; PGL3; PPGL3; QPS1; SDH3"
                     /note="major polyA site"
ORIGIN      
        1 acttccgtcc agaccggaac ccaagatggc tgcgctgttg ctgagacacg ttggtcgtca
       61 ttgcctccga gcccacttta gccctcagct ctgtatcaga aatgctgttc ctttgggaac
      121 cacggccaaa gaagagatgg agcggttctg gaataagaat ataggttcaa accgtcctct
      181 gtctccccac attactatct acagttggtc tcttcccatg gcgatgtcca tctgccaccg
      241 tggcactggt attgctttga gtgcaggggt ctctcttttt ggcatgtcgg ccctgttact
      301 ccctgggaac tttgagtctt atttggaact tgtgaagtcc ctgtgtctgg ggccagcact
      361 gatccacaca gctaagtttg cacttgtctt ccctctcatg tatcatacct ggaatgggat
      421 ccgacacttg atgtgggacc taggaaaagg cctgaagatt ccccagctat accagtctgg
      481 agtggttgtc ctggttctta ctgtgttgtc ctctatgggg ctggcagcca tgtgaagaaa
      541 ggaggctccc agcatcatct tcctacacat tattacattc acccatcttt ctgtttgtca
      601 ttcttatctc cagcctggga aaagttctcc ttatttgttt agatcctttt gtattttcag
      661 atctccttgg agcagtagag tacctggtag accataatag tggaaaaggg tctagttttc
      721 cccttgtttc taaagatgag gtggctgcaa aaactcccct tttttgccca cagcttgcct
      781 actctcggcc tagaagcagt tattctctct ccatattggg ctttgatttg tgctgagggt
      841 cagcttttgg ctccttcttc ctgagacagt ggaaacaatg ccagctctgt ggcttctgcc
      901 ctggggatgg gccgggttgg ggggtgggtt ggtgaggctt tgggtgccac tgcctgtggg
      961 ttgctggctt aaaggacaat tctcttcatt ggtgagagcc caggccatta acacctacac
     1021 agtgttattg aaagaagaga ggtgggggtg gaggggaatt agtctgtccc agctagaggg
     1081 agataaagag ggctagttag ttcttggagc agctgctttt gaggagaaaa tatatagctt
     1141 tggacacgag gaagatctag aaaattatca ttgaacatat taatggttat ttctttttct
     1201 tggatttcca gaaaagcctc ttaattttat gctttctcat cgaagtaatg tacccttttt
     1261 ttctgaaact gaattaaata ctcattttat ctttgactct ccttgaaa
//
