LOCUS       NM_003002               1339 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex subunit D (SDHD),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003002
VERSION     NM_003002.4
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 1339)
  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 1339)
  AUTHORS   Taieb,D., Wanna,G.B., Ahmad,M., Lussey-Lepoutre,C., Perrier,N.D.,
            Nolting,S., Amar,L., Timmers,H.J.L.M., Schwam,Z.G., Estrera,A.L.,
            Lim,M., Pollom,E.L., Vitzthum,L., Bourdeau,I., Casey,R.T.,
            Castinetti,F., Clifton-Bligh,R., Corssmit,E.P.M., de Krijger,R.R.,
            Del Rivero,J., Eisenhofer,G., Ghayee,H.K., Gimenez-Roqueplo,A.P.,
            Grossman,A., Imperiale,A., Jansen,J.C., Jha,A., Kerstens,M.N.,
            Kunst,H.P.M., Liu,J.K., Maher,E.R., Marchioni,D.,
            Mercado-Asis,L.B., Mete,O., Naruse,M., Nilubol,N.,
            Pandit-Taskar,N., Sebag,F., Tanabe,A., Widimsky,J., Meuter,L.,
            Lenders,J.W.M. and Pacak,K.
  TITLE     Clinical consensus guideline on the management of phaeochromocytoma
            and paraganglioma in patients harbouring germline SDHD pathogenic
            variants
  JOURNAL   Lancet Diabetes Endocrinol 11 (5), 345-361 (2023)
   PUBMED   37011647
  REMARK    GeneRIF: Clinical consensus guideline on the management of
            phaeochromocytoma and paraganglioma in patients harbouring germline
            SDHD pathogenic variants.
            Review article
REFERENCE   3  (bases 1 to 1339)
  AUTHORS   Baysal,B.E.
  TITLE     Mitochondrial complex II and genomic imprinting in inheritance of
            paraganglioma tumors
  JOURNAL   Biochim Biophys Acta 1827 (5), 573-577 (2013)
   PUBMED   23291190
  REMARK    GeneRIF: Studies indicate that mutations in the mitochondrial
            complex II structural subunit genes SDHB, SDHC and SDHD and the
            regulatory subunit gene SDHAF2 in many paraganglioma families.
            Review article
REFERENCE   4  (bases 1 to 1339)
  AUTHORS   Gimm,O., Armanios,M., Dziema,H., Neumann,H.P. and Eng,C.
  TITLE     Somatic and occult germ-line mutations in SDHD, a mitochondrial
            complex II gene, in nonfamilial pheochromocytoma
  JOURNAL   Cancer Res 60 (24), 6822-6825 (2000)
   PUBMED   11156372
REFERENCE   5  (bases 1 to 1339)
  AUTHORS   Baysal,B.E., Ferrell,R.E., Willett-Brozick,J.E., Lawrence,E.C.,
            Myssiorek,D., Bosch,A., van der Mey,A., Taschner,P.E.,
            Rubinstein,W.S., Myers,E.N., Richard,C.W. 3rd, Cornelisse,C.J.,
            Devilee,P. and Devlin,B.
  TITLE     Mutations in SDHD, a mitochondrial complex II gene, in hereditary
            paraganglioma
  JOURNAL   Science 287 (5454), 848-851 (2000)
   PUBMED   10657297
REFERENCE   6  (bases 1 to 1339)
  AUTHORS   Hirawake,H., Taniwaki,M., Tamura,A., Amino,H., Tomitsuka,E. and
            Kita,K.
  TITLE     Characterization of the human SDHD gene encoding the small subunit
            of cytochrome b (cybS) in mitochondrial succinate-ubiquinone
            oxidoreductase
  JOURNAL   Biochim Biophys Acta 1412 (3), 295-300 (1999)
   PUBMED   10482792
REFERENCE   7  (bases 1 to 1339)
  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   8  (bases 1 to 1339)
  AUTHORS   Mariman,E.C., van Beersum,S.E., Cremers,C.W., Struycken,P.M. and
            Ropers,H.H.
  TITLE     Fine mapping of a putatively imprinted gene for familial
            non-chromaffin paragangliomas to chromosome 11q13.1: evidence for
            genetic heterogeneity
  JOURNAL   Hum Genet 95 (1), 56-62 (1995)
   PUBMED   7814027
REFERENCE   9  (bases 1 to 1339)
  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   10 (bases 1 to 1339)
  AUTHORS   Heutink,P., van der Mey,A.G., Sandkuijl,L.A., van Gils,A.P.,
            Bardoel,A., Breedveld,G.J., van Vliet,M., van Ommen,G.J.,
            Cornelisse,C.J., Oostra,B.A. et al.
  TITLE     A gene subject to genomic imprinting and responsible for hereditary
            paragangliomas maps to chromosome 11q23-qter
  JOURNAL   Hum Mol Genet 1 (1), 7-10 (1992)
   PUBMED   1301144
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015188.1, AI753083.1 and
            AP002007.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003002.3.
            
            Summary: This gene encodes a member of complex II of the
            respiratory chain, which is responsible for the oxidation of
            succinate. The encoded protein is one of two integral membrane
            proteins anchoring the complex to the matrix side of the
            mitochondrial inner membrane. Mutations in this gene are associated
            with the formation of tumors, including hereditary paraganglioma.
            Transmission of disease occurs almost exclusively through the
            paternal allele, suggesting that this locus may be maternally
            imprinted. There are pseudogenes for this gene on chromosomes 1, 2,
            3, 7, and 18. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR5189655.222484.1,
                                           SRR5189652.48039.1 [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
            imprinted gene                     :: PMID: 23291190
            MANE Ensembl match                 :: ENST00000375549.8/
                                                  ENSP00000364699.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1127              BC015188.1         1-1127
            1128-1321           AI753083.1         16-209              c
            1322-1339           AP002007.4         112870-112887
FEATURES             Location/Qualifiers
     source          1..1339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..1339
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /note="succinate dehydrogenase complex subunit D"
                     /db_xref="GeneID:6392"
                     /db_xref="HGNC:HGNC:10683"
                     /db_xref="MIM:602690"
     exon            1..87
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..515
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; succinate dehydrogenase [ubiquinone] cytochrome
                     b small subunit, mitochondrial; succinate-ubiquinone
                     reductase membrane anchor subunit; succinate-ubiquinone
                     oxidoreductase cytochrome b small subunit; succinate
                     dehydrogenase complex subunit D integral membrane protein;
                     malate dehydrogenase [quinone] cytochrome b small subunit"
                     /codon_start=1
                     /product="succinate dehydrogenase [ubiquinone] cytochrome
                     b small subunit, mitochondrial isoform a precursor"
                     /protein_id="NP_002993.1"
                     /db_xref="CCDS:CCDS31678.1"
                     /db_xref="GeneID:6392"
                     /db_xref="HGNC:HGNC:10683"
                     /db_xref="MIM:602690"
                     /translation="MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWC
                     GVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLH
                     GHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL"
     exon            88..204
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /inference="alignment:Splign:2.1.0"
     exon            205..349
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /inference="alignment:Splign:2.1.0"
     exon            350..1339
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1300..1305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /note="hexamer: AATAAA"
     regulatory      1315..1320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /note="hexamer: AATAAA"
     polyA_site      1321
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
                     /note="major polyA site"
     polyA_site      1339
                     /gene="SDHD"
                     /gene_synonym="CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1;
                     PPGL1; QPs3; SDH4"
ORIGIN      
        1 gggttggtgg atgaccttga gccctcagga acgagatggc ggttctctgg aggctgagtg
       61 ccgtttgcgg tgccctagga ggccgagctc tgttgcttcg aactccagtg gtcagacctg
      121 ctcatatctc agcatttctt caggaccgac ctatcccaga atggtgtgga gtgcagcaca
      181 tacacttgtc accgagccac cattctggct ccaaggctgc atctctccac tggactagcg
      241 agagggttgt cagtgttttg ctcctgggtc tgcttccggc tgcttatttg aatccttgct
      301 ctgcgatgga ctattccctg gctgcagccc tcactcttca tggtcactgg ggccttggac
      361 aagttgttac tgactatgtt catggggatg ccttgcagaa agctgccaag gcagggcttt
      421 tggcactttc agctttaacc tttgctgggc tttgctattt caactatcac gatgtgggca
      481 tctgcaaagc tgttgccatg ctgtggaagc tctgaccttt ttgacttcat actttgaaga
      541 attgatgtat gcctctttgc ctctgctttg tcatgccatt aagctcacaa taaggaagaa
      601 ataacagata agtccattgg tggacagcct tcttctctta atcacaagat tattttcaga
      661 atttaatctt tgaggaaaag gtttgagagg aattatatct aagttgtgag actgagttct
      721 atattctggt gagttaatgg ggttgcctcc cagcttctta taagactcac agtataacta
      781 aacatgatat atcagctttt gcctttcaat ttatcaatct cttaaagaga atccaacttt
      841 attacgatta gtatatgatc aaacttccat atttgccttg ggaataatgg acaaagggaa
      901 atactcttaa ttcatgaata aaaactttgc agaaaattag acagtgttta attttcgaaa
      961 acttccctct ctagacagta gataccacct actgatggtt acatatacta gggaaatttt
     1021 aaaattagga aatgctgata gctcatatta taaatttcta aatcctagga agaaacgctt
     1081 ggagtgcttc tgaatataca gaagttccat ttaagggcaa gtttccctgt agatgtatca
     1141 aaatactacc aactgtaaat tgagatttaa ttcccaaatg tattctactt gttctaaaac
     1201 aatctgtcca caaatataaa actataagta ataaattgtt attttcgcac aatgggaatc
     1261 tctaatgtga aaatgtattc tatgaaaata atttttttaa ataaaatgtt atataataaa
     1321 agtgtcttct atgctttta
//
