LOCUS       NP_004159                664 aa            linear   PRI 12-DEC-2024
DEFINITION  succinate dehydrogenase [ubiquinone] flavoprotein subunit,
            mitochondrial isoform 1 [Homo sapiens].
ACCESSION   NP_004159
VERSION     NP_004159.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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  (residues 1 to 664)
  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 (residues 1 to 664)
  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 Aug 24, 2007 this sequence version replaced NP_004159.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..664
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..664
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform 1"
                     /EC_number="1.3.5.1"
                     /note="succinate dehydrogenase [ubiquinone] flavoprotein
                     subunit, mitochondrial; flavoprotein subunit of complex
                     II; succinate dehydrogenase complex, subunit A,
                     flavoprotein (Fp); malate dehydrogenase [quinone]
                     flavoprotein subunit"
                     /calculated_mol_wt=68084
     transit_peptide 1..42
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:Q0QF01; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
                     /calculated_mol_wt=4626
     Region          40..664
                     /region_name="PTZ00139"
                     /note="Succinate dehydrogenase [ubiquinone] flavoprotein
                     subunit; Provisional"
                     /db_xref="CDD:240286"
     mat_peptide     43..664
                     /product="Succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial. /id=PRO_0000010335"
                     /note="propagated from UniProtKB/Swiss-Prot (P31040.2)"
                     /calculated_mol_wt=68084
     Site            167
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            179
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            182
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            215
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:22823520; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            250
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            335
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            480
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            485
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            498
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            517
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            538
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            541
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            547
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            550
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            598
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            608
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            624
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            636
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     Site            647
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8K2B3; propagated from
                     UniProtKB/Swiss-Prot (P31040.2)"
     CDS             1..664
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; MC2DN1; NDAXOA; PGL5; PPGL5;
                     SDH1; SDH2; SDHF"
                     /coded_by="NM_004168.4:37..2031"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3853.1"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
ORIGIN      
        1 msgvrglsrl lsarrlalak awptvlqtgt rgfhftvdgn krasakvsds isaqypvvdh
       61 efdavvvgag gaglraafgl seagfntacv tklfptrsht vaaqgginaa lgnmeednwr
      121 whfydtvkgs dwlgdqdaih ymteqapaav velenygmpf srtedgkiyq rafggqslkf
      181 gkggqahrcc cvadrtghsl lhtlygrslr ydtsyfveyf aldllmenge crgvialcie
      241 dgsihrirak ntvvatggyg rtyfsctsah tstgdgtami traglpcqdl efvqfhptgi
      301 ygagcliteg crgeggilin sqgerfmery apvakdlasr dvvsrsmtle iregrgcgpe
      361 kdhvylqlhh lppeqlatrl pgisetamif agvdvtkepi pvlptvhynm ggiptnykgq
      421 vlrhvngqdq ivpglyacge aacasvhgan rlganslldl vvfgracals ieescrpgdk
      481 vppikpnage esvmnldklr fadgsirtse lrlsmqksmq nhaavfrvgs vlqegcgkis
      541 klygdlkhlk tfdrgmvwnt dlvetlelqn lmlcalqtiy gaearkesrg aharedykvr
      601 ideydyskpi qgqqkkpfee hwrkhtlsyv dvgtgkvtle yrpvidktln eadcatvppa
      661 irsy
//
