LOCUS       NM_004168               2693 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex flavoprotein subunit A
            (SDHA), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_004168
VERSION     NM_004168.4
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 2693)
  AUTHORS   Kaplan,A.I., Dwight,T., Luxford,C., Benn,D.E. and
            Clifton-Bligh,R.J.
  TITLE     SDHA-related phaeochromocytoma and paraganglioma: review and
            clinical management
  JOURNAL   Endocr Relat Cancer 31 (10), e240111 (2024)
   PUBMED   39133175
  REMARK    GeneRIF: SDHA-related phaeochromocytoma and paraganglioma: review
            and clinical management.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2693)
  AUTHORS   Liu,J., Wang,Y., Wang,X., Li,Y., Jiang,Y., Li,Y., Zhang,W. and
            Yu,W.
  TITLE     Succinate dehydrogenase A deficient renal cell carcinoma: A rare
            renal tumor distinct from typical Succinate dehydrogenase deficient
            renal cell carcinoma
  JOURNAL   Pathol Res Pract 261, 155459 (2024)
   PUBMED   39083879
  REMARK    GeneRIF: Succinate dehydrogenase A deficient renal cell carcinoma:
            A rare renal tumor distinct from typical Succinate dehydrogenase
            deficient renal cell carcinoma.
REFERENCE   3  (bases 1 to 2693)
  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   4  (bases 1 to 2693)
  AUTHORS   Schipani,A., Nannini,M., Astolfi,A. and Pantaleo,M.A.
  TITLE     SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
  JOURNAL   Genes (Basel) 14 (3), 646 (2023)
   PUBMED   36980917
  REMARK    GeneRIF: SDHA Germline Mutations in SDH-Deficient GISTs: A Current
            Update.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2693)
  AUTHORS   Parfait,B., Chretien,D., Rotig,A., Marsac,C., Munnich,A. and
            Rustin,P.
  TITLE     Compound heterozygous mutations in the flavoprotein gene of the
            respiratory chain complex II in a patient with Leigh syndrome
  JOURNAL   Hum Genet 106 (2), 236-243 (2000)
   PUBMED   10746566
REFERENCE   6  (bases 1 to 2693)
  AUTHORS   Bourgeron,T., Rustin,P., Chretien,D., Birch-Machin,M.,
            Bourgeois,M., Viegas-Pequignot,E., Munnich,A. and Rotig,A.
  TITLE     Mutation of a nuclear succinate dehydrogenase gene results in
            mitochondrial respiratory chain deficiency
  JOURNAL   Nat Genet 11 (2), 144-149 (1995)
   PUBMED   7550341
REFERENCE   7  (bases 1 to 2693)
  AUTHORS   Hirawake,H., Wang,H., Kuramochi,T., Kojima,S. and Kita,K.
  TITLE     Human complex II (succinate-ubiquinone oxidoreductase): cDNA
            cloning of the flavoprotein (Fp) subunit of liver mitochondria
  JOURNAL   J Biochem 116 (1), 221-227 (1994)
   PUBMED   7798181
REFERENCE   8  (bases 1 to 2693)
  AUTHORS   Morris,A.A., Farnsworth,L., Ackrell,B.A., Turnbull,D.M. and
            Birch-Machin,M.A.
  TITLE     The cDNA sequence of the flavoprotein subunit of human heart
            succinate dehydrogenase
  JOURNAL   Biochim Biophys Acta 1185 (1), 125-128 (1994)
   PUBMED   8142412
REFERENCE   9  (bases 1 to 2693)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
REFERENCE   10 (bases 1 to 2693)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA160919.1, BC001380.2,
            AK291311.1, AC021087.5 and HY265959.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004168.3.
            
            Summary: This gene encodes a major catalytic subunit of
            succinate-ubiquinone oxidoreductase, a complex of the mitochondrial
            respiratory chain. The complex is composed of four nuclear-encoded
            subunits and is localized in the mitochondrial inner membrane.
            Mutations in this gene have been associated with a form of
            mitochondrial respiratory chain deficiency known as Leigh Syndrome.
            A pseudogene has been identified on chromosome 3q29. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1803612.75315.1,
                                           SRR1803617.168940.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000264932.11/
                                                  ENSP00000264932.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-470               DA160919.1         98-567
            471-926             BC001380.2         464-919
            927-2290            AK291311.1         923-2286
            2291-2450           AC021087.5         112270-112429
            2451-2693           HY265959.1         32-274              c
FEATURES             Location/Qualifiers
     source          1..2693
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..2693
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /note="succinate dehydrogenase complex flavoprotein
                     subunit A"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
     exon            1..99
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..2031
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /EC_number="1.3.5.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     succinate dehydrogenase [ubiquinone] flavoprotein subunit,
                     mitochondrial; flavoprotein subunit of complex II;
                     succinate dehydrogenase complex, subunit A, flavoprotein
                     (Fp); malate dehydrogenase [quinone] flavoprotein subunit"
                     /codon_start=1
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform 1"
                     /protein_id="NP_004159.2"
                     /db_xref="CCDS:CCDS3853.1"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
                     /translation="MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRAS
                     AKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVA
                     AQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPF
                     SRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVE
                     YFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDG
                     TAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVA
                     KDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAG
                     VDVTKEPIPVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGAN
                     RLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRT
                     SELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDRGMVWNTDLVETL
                     ELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRK
                     HTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY"
     exon            100..186
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            187..348
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            349..492
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            493..657
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            658..806
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            807..931
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1100
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1296
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1468
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1587
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1699
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1830
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1944
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2693
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2273..2278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /note="hexamer: AATAAA"
     polyA_site      2293
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /note="major polyA site"
     regulatory      2673..2678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /note="hexamer: ATTATA"
     polyA_site      2693
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /note="major polyA site"
ORIGIN      
        1 agggactggc gggactgcgc ggcggcaaca gcagacatgt cgggggtccg gggcctgtcg
       61 cggctgctga gcgctcggcg cctggcgctg gccaaggcgt ggccaacagt gttgcaaaca
      121 ggaacccgag gttttcactt cactgttgat gggaacaaga gggcatctgc taaagtttca
      181 gattccattt ctgctcagta tccagtagtg gatcatgaat ttgatgcagt ggtggtaggc
      241 gctggagggg caggcttgcg agctgcattt ggcctttctg aggcagggtt taatacagca
      301 tgtgttacca agctgtttcc taccaggtca cacactgttg cagcacaggg aggaatcaat
      361 gctgctctgg ggaacatgga ggaggacaac tggaggtggc atttctacga caccgtgaag
      421 ggctccgact ggctggggga ccaggatgcc atccactaca tgacggagca ggcccccgcc
      481 gccgtggtcg agctagaaaa ttatggcatg ccgtttagca gaactgaaga tgggaagatt
      541 tatcagcgtg catttggtgg acagagcctc aagtttggaa agggcgggca ggcccatcgg
      601 tgctgctgtg tggctgatcg gactggccac tcgctattgc acaccttata tggaaggtct
      661 ctgcgatatg ataccagcta ttttgtggag tattttgcct tggatctcct gatggagaat
      721 ggggagtgcc gtggtgtcat cgcactgtgc atagaggacg ggtccatcca tcgcataaga
      781 gcaaagaaca ctgttgttgc cacaggaggc tacgggcgca cctacttcag ctgcacgtct
      841 gcccacacca gcactggcga cggcacggcc atgatcacca gggcaggcct tccttgccag
      901 gacctagagt ttgttcagtt ccaccctaca ggcatatatg gtgctggttg tctcattacg
      961 gaaggatgtc gtggagaggg aggcattctc attaacagtc aaggcgaaag gtttatggag
     1021 cgatacgccc ctgtcgcgaa ggacctggcg tctagagatg tggtgtctcg gtccatgact
     1081 ctggagatcc gagaaggaag aggctgtggc cctgagaaag atcacgtcta cctgcagctg
     1141 caccacctac ctccagagca gctggccacg cgcctgcctg gcatttcaga gacagccatg
     1201 atcttcgctg gcgtggacgt cacgaaggag ccgatccctg tcctccccac cgtgcattat
     1261 aacatgggcg gcattcccac caactacaag gggcaggtcc tgaggcacgt gaatggccag
     1321 gatcagattg tgcccggcct gtacgcctgt ggggaggccg cctgtgcctc ggtacatggt
     1381 gccaaccgcc tcggggcaaa ctcgctcttg gacctggttg tctttggtcg ggcatgtgcc
     1441 ctgagcatcg aagagtcatg caggcctgga gataaagtcc ctccaattaa accaaacgct
     1501 ggggaagaat ctgtcatgaa tcttgacaaa ttgagatttg ctgatggaag cataagaaca
     1561 tcggaactgc gactcagcat gcagaagtca atgcaaaatc atgctgccgt gttccgtgtg
     1621 ggaagcgtgt tgcaagaagg ttgtgggaaa atcagcaagc tctatggaga cctaaagcac
     1681 ctgaagacgt tcgaccgggg aatggtctgg aacacggacc tggtggagac cctggagctg
     1741 cagaacctga tgctgtgtgc gctgcagacc atctacggag cagaggcacg gaaggagtca
     1801 cggggcgcgc atgccaggga agactacaag gtgcggattg atgagtacga ttactccaag
     1861 cccatccagg ggcaacagaa gaagcccttt gaggagcact ggaggaagca caccctgtcc
     1921 tatgtggacg ttggcactgg gaaggtcact ctggaatata gacccgtgat cgacaaaact
     1981 ttgaacgagg ctgactgtgc caccgtcccg ccagccattc gctcctactg atgagacaag
     2041 atgtggtgat gacagaatca gcttttgtaa ttatgtataa tagctcatgc atgtgtccat
     2101 gtcataactg tcttcatacg cttctgcact ctggggaaga aggagtacat tgaagggaga
     2161 ttggcaccta gtggctggga gcttgccagg aacccagtgg ccagggagcg tggcacttac
     2221 ctttgtccct tgcttcattc ttgtgagatg ataaaactgg gcacagctct taaataaaat
     2281 ataaatgaac aaactttctt ttatttccaa atccatttga aatattttac tgttgtgact
     2341 ttagtcatat ttgttgacct aaaaatcaaa tgtaatcttt gtattgtgtt acatcaaaat
     2401 ccagatattt tgtatagttt cttttttctt tttcttttct tttttttttt tgagacagga
     2461 tcggtgcagt agtacaatca cagctcactg cagcctcaaa ctcctgggca gctcaggtga
     2521 tcttcctgac tcagccttct gagtagttgg ggctacaggt gtgcaccacc atgcccagct
     2581 catttatttt gtaattgtag ggacagggtc tcactgtgtt gcctaggctg gtctcaagtg
     2641 atcctccctc cttggcctcc caaggtgctg gaattatagg tgtgaacaaa cca
//
