LOCUS       NM_001042631            1125 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex assembly factor 1
            (SDHAF1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001042631 XM_927323 XM_940198
VERSION     NM_001042631.3
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 1125)
  AUTHORS   Cheng,W., Liu,F., Ren,Z., Chen,W., Chen,Y., Liu,T., Ma,Y., Cao,N.
            and Wang,J.
  TITLE     Parallel functional assessment of m6A sites in human endodermal
            differentiation with base editor screens
  JOURNAL   Nat Commun 13 (1), 478 (2022)
   PUBMED   35078991
  REMARK    GeneRIF: Parallel functional assessment of m(6)A sites in human
            endodermal differentiation with base editor screens.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1125)
  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 1125)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1125)
  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   5  (bases 1 to 1125)
  AUTHORS   Maio,N., Kim,K.S., Singh,A. and Rouault,T.A.
  TITLE     A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent
            Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III
  JOURNAL   Cell Metab 25 (4), 945-953 (2017)
   PUBMED   28380382
REFERENCE   6  (bases 1 to 1125)
  AUTHORS   Maio,N., Singh,A., Uhrigshardt,H., Saxena,N., Tong,W.H. and
            Rouault,T.A.
  TITLE     Cochaperone binding to LYR motifs confers specificity of iron
            sulfur cluster delivery
  JOURNAL   Cell Metab 19 (3), 445-457 (2014)
   PUBMED   24606901
REFERENCE   7  (bases 1 to 1125)
  AUTHORS   Hoekstra,A.S. and Bayley,J.P.
  TITLE     The role of complex II in disease
  JOURNAL   Biochim Biophys Acta 1827 (5), 543-551 (2013)
   PUBMED   23174333
  REMARK    GeneRIF: Studies indicate that an array of tumor syndromes caused
            by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD,
            SDHAF1 and SDHAF2 have been identified over a decade.
            Review article
REFERENCE   8  (bases 1 to 1125)
  AUTHORS   Ohlenbusch,A., Edvardson,S., Skorpen,J., Bjornstad,A., Saada,A.,
            Elpeleg,O., Gartner,J. and Brockmann,K.
  TITLE     Leukoencephalopathy with accumulated succinate is indicative of
            SDHAF1 related complex II deficiency
  JOURNAL   Orphanet J Rare Dis 7, 69 (2012)
   PUBMED   22995659
  REMARK    GeneRIF: Leukoencephalopathy with accumulated succinate is a key
            symptom of defective complex II assembly due to SDHAF1 mutations
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1125)
  AUTHORS   Ghezzi,D., Goffrini,P., Uziel,G., Horvath,R., Klopstock,T.,
            Lochmuller,H., D'Adamo,P., Gasparini,P., Strom,T.M., Prokisch,H.,
            Invernizzi,F., Ferrero,I. and Zeviani,M.
  TITLE     SDHAF1, encoding a LYR complex-II specific assembly factor, is
            mutated in SDH-defective infantile leukoencephalopathy
  JOURNAL   Nat Genet 41 (6), 654-656 (2009)
   PUBMED   19465911
REFERENCE   10 (bases 1 to 1125)
  AUTHORS   Hoffmann,T.W., Halimi,J.M., Buchler,M., Velge-Roussel,F.,
            Al-Najjar,A., Marliere,J.F., Lebranchu,Y. and Baron,C.
  TITLE     Impact of a polymorphism in the IL-12p40 gene on the outcome of
            kidney transplantation
  JOURNAL   Transplant Proc 41 (2), 654-656 (2009)
   PUBMED   19328947
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM695501.1, BC007205.1 and
            AF038458.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_001042631.2.
            
            Summary: The succinate dehydrogenase (SDH) complex (or complex II)
            of the mitochondrial respiratory chain is composed of 4 individual
            subunits. The protein encoded by this gene resides in the
            mitochondria, and is essential for SDH assembly, but does not
            physically associate with the complex in vivo. Mutations in this
            gene are associated with SDH-defective infantile
            leukoencephalopathy (mitochondrial complex II deficiency).[provided
            by RefSeq, Mar 2010].
            
            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 is intronless :: BC007205.1, DA677600.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000378887.4/
                                                  ENSP00000368165.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-200               BM695501.1         23-222
            201-355             BC007205.1         190-344
            356-356             AF038458.1         81506-81506
            357-1125            BC007205.1         346-1114
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1125
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="succinate dehydrogenase complex assembly factor 1"
                     /db_xref="GeneID:644096"
                     /db_xref="HGNC:HGNC:33867"
                     /db_xref="MIM:612848"
     exon            1..1125
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..435
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="LYR motif-containing protein 8; SDH assembly factor
                     1; LYR motif containing 8"
                     /codon_start=1
                     /product="succinate dehydrogenase assembly factor 1,
                     mitochondrial"
                     /protein_id="NP_001036096.2"
                     /db_xref="CCDS:CCDS32999.1"
                     /db_xref="GeneID:644096"
                     /db_xref="HGNC:HGNC:33867"
                     /db_xref="MIM:612848"
                     /translation="MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPR
                     SDVLRIEYLYRRGRRQLQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPH
                     DSTGAPETRPDGR"
     regulatory      1104..1109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="hexamer: AATAAA"
     polyA_site      1125
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="major polyA site"
ORIGIN      
        1 gtggctttgc cctttggcct ttgctggctg tgtggcggct ccgcggttcg caggtcgttc
       61 gctgagcgtc tctgcttagc cgcggtcatg agccggcaca gccggctgca gaggcaggtt
      121 ctgagcctgt accgcgatct gctgcgcgcc gggcgtggga agccgggcgc cgaggcgcga
      181 gtgcgggcag agttccggca gcatgcgggc ctgccgcggt ccgacgtgct gcgcatcgag
      241 tacctgtacc gccgcgggcg gcgccagctg cagctgctac gctcgggcca cgccaccgcc
      301 atgggcgcct tcgtacgccc gcgggccccg accggggagc ctggcggcgt gggttgccag
      361 cctgacgacg gcgacagtcc aaggaacccc cacgacagca cgggggcacc ggagacccgc
      421 cccgacggac ggtgacaggc gaagagccga actcgctcga tggcgtggtg gagccaggag
      481 gctcgcctga ctgcatgggg ggactgggga acccgcctaa ggtgagaggt cttaagagac
      541 tagcttgacg aattggggat gtcagagact cctccttggc gacgcagggg gcctagagag
      601 ccccgtgatg gacggcaagg gaggcccgcc ttttccgatg cttggagaca ggtcggtgct
      661 cctcccccat gagggcttgg ggcggcctgg gacgctggcg ggctggacag tgtcaagcca
      721 agagctactt gcccgaaggt acggggagcc aggacgaccc ccggtggaca gggagagcct
      781 gagacgccct tctcttgacc cctgagaaca tacccacttc tggctcctca aggagtctcc
      841 cctctcctgt atttaactct gagaagtgca gactttttgc tgagaacgtt ttgggaaggt
      901 gccctgatga gcggtgagaa gcccggaatc cccttctgga aaactttccc ccattaattg
      961 tgacaagcca ggaccatgag gaaggggtag gggtctatca ccctggttga tcaactgaag
     1021 acccccaaag gcccctactt gatggttttg aggggcaaca ttgactcatt tgccccttcc
     1081 ctctcggaat gttggacaaa gggaataaaa ttggggatat gtcta
//
