LOCUS       NM_020186                952 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex assembly factor 3
            (SDHAF3), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_020186
VERSION     NM_020186.3
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 952)
  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   2  (bases 1 to 952)
  AUTHORS   Dwight,T., Na,U., Kim,E., Zhu,Y., Richardson,A.L., Robinson,B.G.,
            Tucker,K.M., Gill,A.J., Benn,D.E., Clifton-Bligh,R.J. and
            Winge,D.R.
  TITLE     Analysis of SDHAF3 in familial and sporadic pheochromocytoma and
            paraganglioma
  JOURNAL   BMC Cancer 17 (1), 497 (2017)
   PUBMED   28738844
  REMARK    GeneRIF: SDHAF3 interacts directly with SDHB (residue 242 being key
            to this interaction), and that a variant in SDHAF3 (c.157 T > C
            [p.Phe53Leu]) may be more prevalent in individuals with familial
            and sporadic pheochromocytoma and paraganglioma, and is hypomorphic
            via impaired interaction with SDHB.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 952)
  AUTHORS   Hill,S.Y., Jones,B.L., Zezza,N. and Stiffler,S.
  TITLE     ACN9 and alcohol dependence: family-based association analysis in
            multiplex alcohol dependence families
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 168B (3), 179-187 (2015)
   PUBMED   25821040
  REMARK    GeneRIF: Single nucleotide polymorphism in ACN9 gene is associated
            with alcohol dependence.
REFERENCE   4  (bases 1 to 952)
  AUTHORS   Na,U., Yu,W., Cox,J., Bricker,D.K., Brockmann,K., Rutter,J.,
            Thummel,C.S. and Winge,D.R.
  TITLE     The LYR factors SDHAF1 and SDHAF3 mediate maturation of the
            iron-sulfur subunit of succinate dehydrogenase
  JOURNAL   Cell Metab 20 (2), 253-266 (2014)
   PUBMED   24954417
REFERENCE   5  (bases 1 to 952)
  AUTHORS   Kerns,S.L., Stock,R.G., Stone,N.N., Blacksburg,S.R., Rath,L.,
            Vega,A., Fachal,L., Gomez-Caamano,A., De Ruysscher,D.,
            Lammering,G., Parliament,M., Blackshaw,M., Sia,M., Cesaretti,J.,
            Terk,M., Hixson,R., Rosenstein,B.S. and Ostrer,H.
  TITLE     Genome-wide association study identifies a region on chromosome
            11q14.3 associated with late rectal bleeding following radiation
            therapy for prostate cancer
  JOURNAL   Radiother Oncol 107 (3), 372-376 (2013)
   PUBMED   23719583
REFERENCE   6  (bases 1 to 952)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 952)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 952)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 952)
  AUTHORS   Dick,D.M., Aliev,F., Wang,J.C., Saccone,S., Hinrichs,A.,
            Bertelsen,S., Budde,J., Saccone,N., Foroud,T., Nurnberger,J. Jr.,
            Xuei,X., Conneally,P.M., Schuckit,M., Almasy,L., Crowe,R.,
            Kuperman,S., Kramer,J., Tischfield,J.A., Hesselbrock,V.,
            Edenberg,H.J., Porjesz,B., Rice,J.P., Bierut,L. and Goate,A.
  TITLE     A Systematic single nucleotide polymorphism screen to fine-map
            alcohol dependence genes on chromosome 7 identifies association
            with a novel susceptibility gene ACN9
  JOURNAL   Biol Psychiatry 63 (11), 1047-1053 (2008)
   PUBMED   18163977
  REMARK    GeneRIF: ACN9 is involved in the predisposition to alcohol
            dependence.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 952)
  AUTHORS   Dennis,R.A. and McCammon,M.T.
  TITLE     Acn9 is a novel protein of gluconeogenesis that is located in the
            mitochondrial intermembrane space
  JOURNAL   Eur J Biochem 261 (1), 236-243 (1999)
   PUBMED   10103055
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073421.8 and AC073900.6.
            
            On Jul 23, 2019 this sequence version replaced NM_020186.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020621.1, AF201933.1 [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                 :: ENST00000432641.3/
                                                  ENSP00000414066.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-200               AC073421.8         63939-64138
            201-952             AC073900.6         30838-31589
FEATURES             Location/Qualifiers
     source          1..952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..952
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /note="succinate dehydrogenase complex assembly factor 3"
                     /db_xref="GeneID:57001"
                     /db_xref="HGNC:HGNC:21752"
                     /db_xref="MIM:615773"
     exon            1..200
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..404
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /note="protein ACN9 homolog, mitochondrial; SDH assembly
                     factor 3; succinate dehydrogenase assembly factor 3,
                     mitochondrial"
                     /codon_start=1
                     /product="succinate dehydrogenase assembly factor 3,
                     mitochondrial precursor"
                     /protein_id="NP_064571.1"
                     /db_xref="CCDS:CCDS5648.1"
                     /db_xref="GeneID:57001"
                     /db_xref="HGNC:HGNC:21752"
                     /db_xref="MIM:615773"
                     /translation="MPGRHVSRVRALYKRVLQLHRVLPPDLKSLGDQYVKDEFRRHKT
                     VGSDEAQRFLQEWEVYATALLQQANENRQNSTGKACFGTFLPEEKLNDFRDEQIGQLQ
                     ELMQEATKPNRQFSISESMKPKF"
     exon            201..952
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      475..480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /note="hexamer: AATATA"
     polyA_site      497
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
     regulatory      932..937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /note="hexamer: AATAAA"
     polyA_site      952
                     /gene="SDHAF3"
                     /gene_synonym="ACN9; DC11; LYRM10; Sdh7"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcggcg gtcggcgtgg ggcgctatgc cggggcggca cgtttctcga gtccgggcat
       61 tgtacaagcg cgtcttgcag ctgcaccgtg ttctgccccc ggacctcaaa tccctgggcg
      121 accagtacgt gaaagacgaa tttaggagac ataagaccgt tggttctgac gaggcacagc
      181 gtttcttgca agaatgggag gtgtatgcaa cagcgttatt gcaacaggct aacgaaaaca
      241 gacaaaattc aactggaaaa gcatgttttg gcaccttcct cccagaagaa aaacttaatg
      301 actttcgtga tgaacaaatt ggacagttgc aggagctgat gcaagaagcc acaaaaccca
      361 ataggcaatt tagtatttct gagtctatga aaccaaaatt ttagtctata caacaaagct
      421 taataagaca tgcaaaaatt tagaacccct actttaactg tcattggttt ttgaaatata
      481 tttaagcttt gaaaacacct gttattaatg aaatactctt ttattttgga tattatgatt
      541 gcagtatatg gatcaagatc actagtgaca attgaaaaaa actattggaa taatagcact
      601 tgtatgaaat tcagttttgg aactaaacag caaatttcta gaattttgct gaaaatgttt
      661 taaaatgcta ttctcatcca gccatattag tcttctggct tttctttagc ttcatcaaat
      721 aagcatgttg tgataatgat agatgtacaa ttccaacaag gttattattt tttaaataca
      781 ttgtcattct gaacatttta tcacttctag tttaataata catacatgat ttttcttctg
      841 aatgtctctt ctccctgcat cactgttcat tcacaatgaa aggttaggaa gaagctttaa
      901 aattcactat tttactatca atcatttgta taataaacta tacaaagtat aa
//
