LOCUS       NM_003172               1092 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens SURF1 cytochrome c oxidase assembly factor (SURF1),
            transcript variant 1, mRNA.
ACCESSION   NM_003172
VERSION     NM_003172.4
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 1092)
  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 1092)
  AUTHORS   Inak,G., Rybak-Wolf,A., Lisowski,P., Pentimalli,T.M., Juttner,R.,
            Glazar,P., Uppal,K., Bottani,E., Brunetti,D., Secker,C., Zink,A.,
            Meierhofer,D., Henke,M.T., Dey,M., Ciptasari,U., Mlody,B., Hahn,T.,
            Berruezo-Llacuna,M., Karaiskos,N., Di Virgilio,M., Mayr,J.A.,
            Wortmann,S.B., Priller,J., Gotthardt,M., Jones,D.P., Mayatepek,E.,
            Stenzel,W., Diecke,S., Kuhn,R., Wanker,E.E., Rajewsky,N.,
            Schuelke,M. and Prigione,A.
  TITLE     Defective metabolic programming impairs early neuronal
            morphogenesis in neural cultures and an organoid model of Leigh
            syndrome
  JOURNAL   Nat Commun 12 (1), 1929 (2021)
   PUBMED   33771987
  REMARK    GeneRIF: Defective metabolic programming impairs early neuronal
            morphogenesis in neural cultures and an organoid model of Leigh
            syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1092)
  AUTHORS   Mani,S., Chandak,G.R., Singh,K.K., Singh,R. and Rao,S.N.
  TITLE     Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome
            patients compromises cytochrome c oxidase activity
  JOURNAL   Mitochondrion 53, 91-98 (2020)
   PUBMED   32380162
  REMARK    GeneRIF: Novel p.P298L SURF1 mutation in thiamine deficient Leigh
            syndrome patients compromises cytochrome c oxidase activity.
REFERENCE   4  (bases 1 to 1092)
  AUTHORS   Li,Y., Wen,S., Li,D., Xie,J., Wei,X., Li,X., Liu,Y., Fang,H.,
            Yang,Y. and Lyu,J.
  TITLE     SURF1 mutations in Chinese patients with Leigh syndrome: Novel
            mutations, mutation spectrum, and the functional consequences
  JOURNAL   Gene 674, 15-24 (2018)
   PUBMED   29933018
  REMARK    GeneRIF: SURF1 mutations may be associated with worse clinical
            outcome in Chinese patients with Leigh syndrome than other
            populations.
REFERENCE   5  (bases 1 to 1092)
  AUTHORS   Tiranti,V., Galimberti,C., Nijtmans,L., Bovolenta,S., Perini,M.P.
            and Zeviani,M.
  TITLE     Characterization of SURF-1 expression and Surf-1p function in
            normal and disease conditions
  JOURNAL   Hum Mol Genet 8 (13), 2533-2540 (1999)
   PUBMED   10556302
REFERENCE   6  (bases 1 to 1092)
  AUTHORS   Zhu,Z., Yao,J., Johns,T., Fu,K., De Bie,I., Macmillan,C.,
            Cuthbert,A.P., Newbold,R.F., Wang,J., Chevrette,M., Brown,G.K.,
            Brown,R.M. and Shoubridge,E.A.
  TITLE     SURF1, encoding a factor involved in the biogenesis of cytochrome c
            oxidase, is mutated in Leigh syndrome
  JOURNAL   Nat Genet 20 (4), 337-343 (1998)
   PUBMED   9843204
REFERENCE   7  (bases 1 to 1092)
  AUTHORS   Duhig,T., Ruhrberg,C., Mor,O. and Fried,M.
  TITLE     The human Surfeit locus
  JOURNAL   Genomics 52 (1), 72-78 (1998)
   PUBMED   9740673
REFERENCE   8  (bases 1 to 1092)
  AUTHORS   Lennard,A., Gaston,K. and Fried,M.
  TITLE     The Surf-1 and Surf-2 genes and their essential bidirectional
            promoter elements are conserved between mouse and human
  JOURNAL   DNA Cell Biol 13 (11), 1117-1126 (1994)
   PUBMED   7702754
REFERENCE   9  (bases 1 to 1092)
  AUTHORS   Yon,J., Jones,T., Garson,K., Sheer,D. and Fried,M.
  TITLE     The organization and conservation of the human Surfeit gene cluster
            and its localization telomeric to the c-abl and can proto-oncogenes
            at chromosome band 9q34.1
  JOURNAL   Hum Mol Genet 2 (3), 237-240 (1993)
   PUBMED   8499913
REFERENCE   10 (bases 1 to 1092)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL593848.15, AI479876.1,
            Z35093.1 and BE645550.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003172.3.
            
            Summary: This gene encodes a protein localized to the inner
            mitochondrial membrane and thought to be involved in the biogenesis
            of the cytochrome c oxidase complex. The protein is a member of the
            SURF1 family, which includes the related yeast protein SHY1 and
            rickettsial protein RP733. The gene is located in the surfeit gene
            cluster, a group of very tightly linked genes that do not share
            sequence similarity, where it shares a bidirectional promoter with
            SURF2 on the opposite strand. Defects in this gene are a cause of
            Leigh syndrome, a severe neurological disorder that is commonly
            associated with systemic cytochrome c oxidase deficiency. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR1660803.98077.1, BC071658.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10556302; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000371974.8/
                                                  ENSP00000361042.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL593848.15        8001-8002           c
            3-20                AI479876.1         288-305             c
            21-1039             Z35093.1           1-1019
            1040-1045           BE645550.1         4-9                 c
            1046-1092           AL593848.15        3273-3319           c
FEATURES             Location/Qualifiers
     source          1..1092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..1092
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /note="SURF1 cytochrome c oxidase assembly factor"
                     /db_xref="GeneID:6834"
                     /db_xref="HGNC:HGNC:11474"
                     /db_xref="MIM:185620"
     exon            1..88
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..937
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /EC_number="7.1.1.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     surfeit locus protein 1; surfeit 1"
                     /codon_start=1
                     /product="surfeit locus protein 1 isoform 1"
                     /protein_id="NP_003163.1"
                     /db_xref="CCDS:CCDS6966.1"
                     /db_xref="GeneID:6834"
                     /db_xref="HGNC:HGNC:11474"
                     /db_xref="MIM:185620"
                     /translation="MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRC
                     GSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEP
                     VPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA
                     YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVP
                     ENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIV
                     TWYGLSAATSYLWFKKFLRGTPGV"
     exon            89..140
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            141..274
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            275..357
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            358..549
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            550..622
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            623..785
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..867
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1092
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1016..1021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /note="hexamer: TATAAA"
     polyA_site      1042
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /note="major polyA site"
     regulatory      1063..1068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
                     /note="hexamer: CATAAA"
     polyA_site      1069
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
     polyA_site      1092
                     /gene="SURF1"
                     /gene_synonym="CMT4K; MC4DN1; SHY1"
ORIGIN      
        1 ctgcgtcccg gaagcgcccg cggggccggg tgcgatggcg gcggtggctg cgttgcagct
       61 ggggctgcgg gcggcggggc tgggacgggc cccggccagc gccgcctgga ggagcgtcct
      121 cagggtctcc ccgcgcccag gggtggcctg gaggccaagc agatgtggca gttctgcagc
      181 agaagcatct gccacaaaag cggaagatga ctcctttctt cagtgggtcc tgctcctcat
      241 ccctgtgact gcctttggct tggggacatg gcaggtccag cgtcggaagt ggaagctgaa
      301 cctgattgca gagttggagt ccagagttct ggctgagcct gtccctctgc cagccgaccc
      361 aatggaactg aaaaatctgg agtataggcc agtgaaggtc agggggtgct ttgaccattc
      421 caaggagctg tatatgatgc cccggaccat ggtggaccct gtccgggagg cccgggaggg
      481 cggcctcatc tcctcctcaa ctcagagtgg ggcctatgtg gtcactccct tccactgcac
      541 cgacctggga gtcaccatcc tggtaaatag agggttcgtt cccaggaaga aagtgaatcc
      601 tgaaacccgg cagaaaggcc agattgaggg agaagtggac ctcattggga tggtgaggct
      661 gacagaaacc aggcagcctt ttgtccctga gaacaatcca gaaaggaacc actggcatta
      721 tcgagacctg gaagctatgg ccagaatcac aggcgcagag cccatcttca ttgatgccaa
      781 cttccagagc acagtccctg gaggacccat tggagggcaa accagagtta ctctgaggaa
      841 cgagcatctg cagtacatcg tgacctggta tggactctct gcagctacat cctacctgtg
      901 gtttaagaaa ttcctacgtg ggacacctgg tgtgtgacag atcagctgct gaagccctgt
      961 ccctggataa tgcagtattt caagactgcc tttatgctgg atcatgtgct actggtataa
     1021 agttctggcc ttctacctta aatgagctca tgactggttc atcataaaat cctggcttgg
     1081 tttcagtcca aa
//
