LOCUS       NM_145267               1183 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex assembly factor 4
            (SDHAF4), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_145267
VERSION     NM_145267.3
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 1183)
  AUTHORS   Ustianowski,P., Malinowski,D., Czerewaty,M., Safranow,K.,
            Tarnowski,M., Dziedziejko,V. and Pawlik,A.
  TITLE     THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental
            Expression in Women with Gestational Diabetes
  JOURNAL   Genes (Basel) 14 (1), 83 (2022)
   PUBMED   36672824
  REMARK    GeneRIF: THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental
            Expression in Women with Gestational Diabetes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1183)
  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   3  (bases 1 to 1183)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1183)
  AUTHORS   Van Vranken,J.G., Bricker,D.K., Dephoure,N., Gygi,S.P., Cox,J.E.,
            Thummel,C.S. and Rutter,J.
  TITLE     SDHAF4 promotes mitochondrial succinate dehydrogenase activity and
            prevents neurodegeneration
  JOURNAL   Cell Metab 20 (2), 241-252 (2014)
   PUBMED   24954416
REFERENCE   5  (bases 1 to 1183)
  AUTHORS   Sim,X., Ong,R.T., Suo,C., Tay,W.T., Liu,J., Ng,D.P., Boehnke,M.,
            Chia,K.S., Wong,T.Y., Seielstad,M., Teo,Y.Y. and Tai,E.S.
  TITLE     Transferability of type 2 diabetes implicated loci in multi-ethnic
            cohorts from Southeast Asia
  JOURNAL   PLoS Genet 7 (4), e1001363 (2011)
   PUBMED   21490949
REFERENCE   6  (bases 1 to 1183)
  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   7  (bases 1 to 1183)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL583856.6.
            
            On Aug 18, 2018 this sequence version replaced NM_145267.2.
            
            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 :: BC018085.1, DRR138512.97154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370474.4/ ENSP00000359505.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                AL583856.6         5187-5261
            76-228              AL583856.6         17671-17823
            229-1183            AL583856.6         26872-27826
FEATURES             Location/Qualifiers
     source          1..1183
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..1183
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /note="succinate dehydrogenase complex assembly factor 4"
                     /db_xref="GeneID:135154"
                     /db_xref="HGNC:HGNC:20957"
                     /db_xref="MIM:619198"
     exon            1..75
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..338
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /note="UPF0369 protein C6orf57; SDH assembly factor 4;
                     succinate dehydrogenase assembly factor 4, mitochondrial"
                     /codon_start=1
                     /product="succinate dehydrogenase assembly factor 4,
                     mitochondrial precursor"
                     /protein_id="NP_660310.2"
                     /db_xref="CCDS:CCDS4972.1"
                     /db_xref="GeneID:135154"
                     /db_xref="HGNC:HGNC:20957"
                     /db_xref="MIM:619198"
                     /translation="MTPSRLPWLLSWVSATAWRAARSPLLCHSLRKTSSSQGGKSELV
                     KQSLKKPKLPEGRFDAPEDSHLEKEPLEKFPDDVNPVTKEKGGPRGPEPTRYGDWERK
                     GRCIDF"
     exon            76..228
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /inference="alignment:Splign:2.1.0"
     exon            229..1183
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      396
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /note="major polyA site"
     regulatory      1163..1168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /note="hexamer: AATAAA"
     polyA_site      1183
                     /gene="SDHAF4"
                     /gene_synonym="C6orf57; Sdh8"
                     /note="major polyA site"
ORIGIN      
        1 gagtcggcgc catgacccca tcgaggcttc cctggttgct tagctgggtc tcggccacgg
       61 cgtggagagc ggcaagatca ccccttctgt gtcattctct gaggaaaaca agttcttctc
      121 aaggaggaaa gtctgaactt gtcaaacagt cccttaagaa gccgaagtta ccagaaggtc
      181 gttttgatgc accagaggat tcccatttag agaaagaacc actggaaaaa tttccagatg
      241 atgttaatcc agtgaccaaa gaaaaaggtg gacccagggg cccagaacct acccgatatg
      301 gagattggga acgaaaagga cgctgtattg atttttaagt cgcatattct ttaacttcaa
      361 tattgttttc tgaatatgta catctgaatt aacttatttc tgattatttt ctttctttat
      421 atcctttatg tcgtgtagtt tgtataatgt gtttaaatat atatatatat gatggctttg
      481 gaagaaaata tgctgctgta aattaggaaa gggagaccag cctgaccaat atggagaaat
      541 ctcgccttta ctaaaaatac aaaattagcc aggcgtggtg gcatgcacct gtaatcccaa
      601 ctactctgga ggctgaggca ggagaatggc ttaaacccag gaggtggagg ttgcggtgag
      661 ctgaggtcgc gccattgcac tccagcctgg gcaacaagag cgaaactccg tctcaaaaaa
      721 aaagatagga aagggaaaat attttttcat taacatatat taatttaatg agtatagaaa
      781 tgattcttgt ttttttgaga cagagtctct ctctctcacc caggctggag tggagtggca
      841 ctatcccaac tcactgcaac ttccgccccg ccaggttcaa gcaattctcc tgcctcagcc
      901 tcctgagtag ctgggattac agacacccac cattgcgcct ggctaatttt tgtattttta
      961 gtaaagacaa ggtttcacca tgttagccag gctggtctcg aactcctgac ctcagttgat
     1021 ccacctgcct cagcctccca aagtgctggg attgcaggtg tgagccacca cgcccagcct
     1081 agaaatgatt cttagagctg taggccttta cttcatcatt tttcagttta aattaatcag
     1141 ttgcttataa aatgcataca taaataaaat aatttttaaa aaa
//
