LOCUS       NM_003000               1015 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex iron sulfur subunit B
            (SDHB), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_003000
VERSION     NM_003000.3
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 1015)
  AUTHORS   Ajmal,N., Lallas,C.D., McCue,P. and Li,L.
  TITLE     Succinate Dehydrogenase Deficient Renal Cell Carcinoma With
            Sarcomatoid and Rhabdoid Features-A Diagnostic Dilemma
  JOURNAL   Int J Surg Pathol 32 (8), 1508-1513 (2024)
   PUBMED   38311902
  REMARK    GeneRIF: Succinate Dehydrogenase Deficient Renal Cell Carcinoma
            With Sarcomatoid and Rhabdoid Features-A Diagnostic Dilemma.
REFERENCE   2  (bases 1 to 1015)
  AUTHORS   Taieb,D., Nolting,S., Perrier,N.D., Fassnacht,M.,
            Carrasquillo,J.A., Grossman,A.B., Clifton-Bligh,R., Wanna,G.B.,
            Schwam,Z.G., Amar,L., Bourdeau,I., Casey,R.T., Crona,J., Deal,C.L.,
            Del Rivero,J., Duh,Q.Y., Eisenhofer,G., Fojo,T., Ghayee,H.K.,
            Gimenez-Roqueplo,A.P., Gill,A.J., Hicks,R., Imperiale,A., Jha,A.,
            Kerstens,M.N., de Krijger,R.R., Lacroix,A., Lazurova,I., Lin,F.I.,
            Lussey-Lepoutre,C., Maher,E.R., Mete,O., Naruse,M., Nilubol,N.,
            Robledo,M., Sebag,F., Shah,N.S., Tanabe,A., Thompson,G.B.,
            Timmers,H.J.L.M., Widimsky,J., Young,W.J. Jr., Meuter,L.,
            Lenders,J.W.M. and Pacak,K.
  TITLE     Management of phaeochromocytoma and paraganglioma in patients with
            germline SDHB pathogenic variants: an international expert
            Consensus statement
  JOURNAL   Nat Rev Endocrinol 20 (3), 168-184 (2024)
   PUBMED   38097671
  REMARK    GeneRIF: Management of phaeochromocytoma and paraganglioma in
            patients with germline SDHB pathogenic variants: an international
            expert Consensus statement.
            Review article
REFERENCE   3  (bases 1 to 1015)
  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 1015)
  AUTHORS   Davidoff,D.F., Lim,E.S., Benn,D.E., Subramaniam,Y., Dorman,E.,
            Burgess,J.R., Akker,S.A. and Clifton-Bligh,R.J.
  TITLE     Distortion in transmission of pathogenic SDHB- and SDHD-mutated
            alleles from parent to offspring
  JOURNAL   Endocr Relat Cancer 30 (5), e220233 (2023)
   PUBMED   36786389
  REMARK    GeneRIF: Distortion in transmission of pathogenic SDHB- and
            SDHD-mutated alleles from parent to offspring.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1015)
  AUTHORS   Astuti,D., Latif,F., Dallol,A., Dahia,P.L., Douglas,F., George,E.,
            Skoldberg,F., Husebye,E.S., Eng,C. and Maher,E.R.
  TITLE     Gene mutations in the succinate dehydrogenase subunit SDHB cause
            susceptibility to familial pheochromocytoma and to familial
            paraganglioma
  JOURNAL   Am J Hum Genet 69 (1), 49-54 (2001)
   PUBMED   11404820
  REMARK    Erratum:[Am J Hum Genet 2002 Feb;70(2):565]
REFERENCE   6  (bases 1 to 1015)
  AUTHORS   Au,H.C., Ream-Robinson,D., Bellew,L.A., Broomfield,P.L.,
            Saghbini,M. and Scheffler,I.E.
  TITLE     Structural organization of the gene encoding the human iron-sulfur
            subunit of succinate dehydrogenase
  JOURNAL   Gene 159 (2), 249-253 (1995)
   PUBMED   7622059
REFERENCE   7  (bases 1 to 1015)
  AUTHORS   Fridell,R.A., Harding,L.S., Bogerd,H.P. and Cullen,B.R.
  TITLE     Identification of a novel human zinc finger protein that
            specifically interacts with the activation domain of lentiviral Tat
            proteins
  JOURNAL   Virology 209 (2), 347-357 (1995)
   PUBMED   7778269
REFERENCE   8  (bases 1 to 1015)
  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 1015)
  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 1015)
  AUTHORS   Gould,S.J., Subramani,S. and Scheffler,I.E.
  TITLE     Use of the DNA polymerase chain reaction for homology probing:
            isolation of partial cDNA or genomic clones encoding the
            iron-sulfur protein of succinate dehydrogenase from several species
  JOURNAL   Proc Natl Acad Sci U S A 86 (6), 1934-1938 (1989)
   PUBMED   2494655
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1993 Mar 15;90(6):2556]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007840.2, BF796275.1 and
            BU554163.1.
            
            On Aug 31, 2019 this sequence version replaced NM_003000.2.
            
            Summary: This tumor suppressor gene encodes the iron-sulfur protein
            subunit of the succinate dehydrogenase (SDH) enzyme complex which
            plays a critical role in mitochondria. The SDH enzyme complex is
            composed of four nuclear-encoded subunits. This enzyme complex
            converts succinate to fumarate which releases electrons as part of
            the citric acid cycle, and the enzyme complex additionally provides
            an attachment site for released electrons to be transferred to the
            oxidative phosphorylation pathway. The SDH enzyme complex plays a
            role in oxygen-related gene regulation through its conversion of
            succinate, which is an oxygen sensor that stabilizes the
            hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic
            and familial mutations in this gene result in paragangliomas,
            pheochromocytoma, and gastrointestinal stromal tumors, supporting a
            link between mitochondrial dysfunction and tumorigenesis. Mutations
            in this gene are also implicated in nuclear type 4 mitochondrial
            complex II deficiency. [provided by RefSeq, Jun 2022].
            
            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 :: AK312056.1, BC007840.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 2302193; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000375499.8/
                                                  ENSP00000364649.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BC007840.2         139-168
            31-703              BF796275.1         17-689
            704-971             BC007840.2         842-1109
            972-1015            BU554163.1         700-743
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..1015
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /note="succinate dehydrogenase complex iron sulfur subunit
                     B"
                     /db_xref="GeneID:6390"
                     /db_xref="HGNC:HGNC:10681"
                     /db_xref="MIM:185470"
     exon            1..85
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..856
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /EC_number="1.3.5.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; succinate dehydrogenase [ubiquinone]
                     iron-sulfur subunit, mitochondrial; iron-sulfur subunit of
                     complex II; succinate dehydrogenase complex, subunit B,
                     iron sulfur (Ip); malate dehydrogenase [quinone]
                     iron-sulfur subunit"
                     /codon_start=1
                     /product="succinate dehydrogenase [ubiquinone] iron-sulfur
                     subunit, mitochondrial isoform 1 precursor"
                     /protein_id="NP_002991.2"
                     /db_xref="CCDS:CCDS176.1"
                     /db_xref="GeneID:6390"
                     /db_xref="HGNC:HGNC:10681"
                     /db_xref="MIM:185470"
                     /translation="MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAI
                     YRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCA
                     MNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKK
                     DESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRW
                     MIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEK
                     KASV"
     exon            86..213
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            214..299
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            300..436
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            437..553
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            554..655
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            656..778
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     exon            779..1015
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      964..969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /note="hexamer: AATAAA"
     polyA_site      985
                     /gene="SDHB"
                     /gene_synonym="CWS2; IP; MC2DN4; PGL4; PPGL4; SDH; SDH1;
                     SDH2; SDHIP"
                     /note="major polyA site"
ORIGIN      
        1 gtcaggagcc aagatggcgg cggtggtcgc cctctccttg aggcgccggt tgccggccac
       61 aacccttggc ggagcctgcc tgcaggcctc ccgaggagcc cagacagctg cagccacagc
      121 tccccgtatc aagaaatttg ccatctatcg atgggaccca gacaaggctg gagacaaacc
      181 tcatatgcag acttatgaag ttgaccttaa taaatgtggc cccatggtat tggatgcttt
      241 aatcaagatt aagaatgaag ttgactctac tttgaccttc cgaagatcat gcagagaagg
      301 catctgtggc tcttgtgcaa tgaacatcaa tggaggcaac actctagctt gcacccgaag
      361 gattgacacc aacctcaata aggtctcaaa aatctaccct cttccacaca tgtatgtgat
      421 aaaggatctt gttcccgatt tgagcaactt ctatgcacag tacaaatcca ttgagcctta
      481 tttgaagaag aaggatgaat ctcaggaagg caagcagcag tatctgcagt ccatagaaga
      541 gcgtgagaaa ctggacgggc tctacgagtg cattctctgt gcctgctgta gcaccagctg
      601 ccccagctac tggtggaacg gagacaaata tctggggcct gcagttctta tgcaggccta
      661 tcgctggatg attgactcca gagatgactt cacagaggag cgcctggcca agctgcagga
      721 cccattctct ctataccgct gccacaccat catgaactgc acaaggacct gtcctaaggg
      781 tctgaatcca gggaaagcta ttgcagagat caagaaaatg atggcaacct ataaggagaa
      841 gaaagcttca gtttaactgt ttccatgcta aacatgattt ataaccagct cagagctgaa
      901 cataatttat atctaatttg agttccttta aagatcttgg ttttccatga atacagcatg
      961 tataataaaa attttaagaa ataaatgtta ttctacttta ttaacaaaaa aaaaa
//
