LOCUS       NM_016013               1509 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            1 (NDUFAF1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_016013
VERSION     NM_016013.4
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 1509)
  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 1509)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   3  (bases 1 to 1509)
  AUTHORS   Formosa,L.E., Muellner-Wong,L., Reljic,B., Sharpe,A.J.,
            Jackson,T.D., Beilharz,T.H., Stojanovski,D., Lazarou,M.,
            Stroud,D.A. and Ryan,M.T.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   4  (bases 1 to 1509)
  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 1509)
  AUTHORS   Dunning,C.J., McKenzie,M., Sugiana,C., Lazarou,M., Silke,J.,
            Connelly,A., Fletcher,J.M., Kirby,D.M., Thorburn,D.R. and Ryan,M.T.
  TITLE     Human CIA30 is involved in the early assembly of mitochondrial
            complex I and mutations in its gene cause disease
  JOURNAL   EMBO J 26 (13), 3227-3237 (2007)
   PUBMED   17557076
  REMARK    GeneRIF: CIA30 is a crucial component in the early assembly of
            complex I and mutations in its gene can cause mitochondrial disease
REFERENCE   6  (bases 1 to 1509)
  AUTHORS   Vogel,R.O., Janssen,R.J., van den Brand,M.A., Dieteren,C.E.,
            Verkaart,S., Koopman,W.J., Willems,P.H., Pluk,W., van den
            Heuvel,L.P., Smeitink,J.A. and Nijtmans,L.G.
  TITLE     Cytosolic signaling protein Ecsit also localizes to mitochondria
            where it interacts with chaperone NDUFAF1 and functions in complex
            I assembly
  JOURNAL   Genes Dev 21 (5), 615-624 (2007)
   PUBMED   17344420
  REMARK    GeneRIF: Study shows a mitochondrial function for Ecsit in the
            assembly of mitochondrial complex I, an N-terminal targeting signal
            directs Ecsit to mitochondria, where it interacts with assembly
            chaperone NDUFAF1.
REFERENCE   7  (bases 1 to 1509)
  AUTHORS   Vogel,R.O., Janssen,R.J., Ugalde,C., Grovenstein,M., Huijbens,R.J.,
            Visch,H.J., van den Heuvel,L.P., Willems,P.H., Zeviani,M.,
            Smeitink,J.A. and Nijtmans,L.G.
  TITLE     Human mitochondrial complex I assembly is mediated by NDUFAF1
  JOURNAL   FEBS J 272 (20), 5317-5326 (2005)
   PUBMED   16218961
  REMARK    GeneRIF: NDUFAF1 is an important protein for the assembly/stability
            of complex I (NADH:ubiquinone oxidoreductase).
REFERENCE   8  (bases 1 to 1509)
  AUTHORS   Janssen,R., Smeitink,J., Smeets,R. and van Den Heuvel,L.
  TITLE     CIA30 complex I assembly factor: a candidate for human complex I
            deficiency?
  JOURNAL   Hum Genet 110 (3), 264-270 (2002)
   PUBMED   11935339
REFERENCE   9  (bases 1 to 1509)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (bases 1 to 1509)
  AUTHORS   Kuffner,R., Rohr,A., Schmiede,A., Krull,C. and Schulte,U.
  TITLE     Involvement of two novel chaperones in the assembly of
            mitochondrial NADH:Ubiquinone oxidoreductase (complex I)
  JOURNAL   J Mol Biol 283 (2), 409-417 (1998)
   PUBMED   9769214
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087721.4, AK309889.1 and
            BC000780.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016013.3.
            
            Summary: This gene encodes a complex I assembly factor protein.
            Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer
            of electrons from NADH to ubiquinone (coenzyme Q) in the first step
            of the mitochondrial respiratory chain, resulting in the
            translocation of protons across the inner mitochondrial membrane.
            The encoded protein is required for assembly of complex I, and
            mutations in this gene are a cause of mitochondrial complex I
            deficiency. Alternatively spliced transcript variants have been
            observed for this gene, and a pseudogene of this gene is located on
            the long arm of chromosome 19. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and is protein-coding.
            
            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 :: SRR3476690.286713.1,
                                           SRR3476690.178805.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260361.9/ ENSP00000260361.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AC087721.4         89532-89567         c
            37-52               AK309889.1         1-16
            53-1509             BC000780.2         1-1457
FEATURES             Location/Qualifiers
     source          1..1509
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..1509
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 1"
                     /db_xref="GeneID:51103"
                     /db_xref="HGNC:HGNC:18828"
                     /db_xref="MIM:606934"
     exon            1..353
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /inference="alignment:Splign:2.1.0"
     exon            354..1007
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /inference="alignment:Splign:2.1.0"
     CDS             435..1418
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /note="complex I intermediate-associated protein 30,
                     mitochondrial; NADH-ubiquinone oxidoreductase 1 alpha
                     subcomplex, assembly factor 1; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, assembly factor 1; NADH
                     dehydrogenase (ubiquinone) complex I, assembly factor 1"
                     /codon_start=1
                     /product="complex I intermediate-associated protein 30,
                     mitochondrial precursor"
                     /protein_id="NP_057097.2"
                     /db_xref="CCDS:CCDS10075.1"
                     /db_xref="GeneID:51103"
                     /db_xref="HGNC:HGNC:18828"
                     /db_xref="MIM:606934"
                     /translation="MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVA
                     SPGKASSQRKTEGDLQGDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIV
                     DHWRGPEGHPLHEVLLEQAKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQS
                     ALLYGTLSSEAPQDGESTRSGYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRP
                     WMVNIKEDTDFFQRTNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPL
                     DKISSIGFTLADKVDGPFFLEIDFIGVFTDPAHTEEFAYENSPELNPRLFK"
     exon            1008..1193
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1268
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1509
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1482..1487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /note="hexamer: AATAAA"
     polyA_site      1509
                     /gene="NDUFAF1"
                     /gene_synonym="CGI-65; CGI65; CIA30; MC1DN11"
                     /note="major polyA site"
ORIGIN      
        1 atacgggtaa agtggcttct gggcggaagg tacactatag gctcggggag gtaagcggcg
       61 gcaggccggc ggttggtgtg tcccgggtgt ggggaggcga cagagccctg gcacttgagg
      121 gttgaggggg cctccccagc gcggcgaacc gtctagcctc cggaggccag gccgtgagtg
      181 cgggaggtat acgccaaggc ggaagaattt tgccactcac tacctgtgtg acctcgggta
      241 aattagcctt ggaacgtcag tttcttcgtc tctataattg aaataataat agtacctctc
      301 tcaggattgt tgtgagccgt cagtgaaaca cttagagcag tttctggcac atggtagaat
      361 tgggctattt gctgaagctt cttggtggcc cttgctagcc caggaagaaa cttacatttt
      421 gatttttttg taccatggct ttggttcaca aattgctgcg tggtacttat tttctcagaa
      481 aattctctaa gccaacttct gccttgtatc catttttggg tattcgcttt gcagagtatt
      541 ccagtagtct tcagaaacca gtggcttctc ctggcaaagc ctcctcacag aggaagactg
      601 aaggggattt gcaaggagat caccagaaag aagttgcttt ggatataact tcttctgagg
      661 agaagcctga tgttagtttc gataaagcaa ttagagatga agcaatatac cattttaggc
      721 ttttgaagga tgaaattgtg gatcattgga gaggaccgga aggccaccct ctgcatgagg
      781 tcttgctgga acaagccaag gttgtctggc aattccgggg gaaagaagat ttggataagt
      841 ggacagtgac ttctgataag acgattggag gcagaagtga agtgtttttg aaaatgggca
      901 agaataacca aagtgcactg ctatatggaa ctctgagctc tgaggcgcct caggacgggg
      961 agtctacccg aagtgggtac tgtgcaatga tatccaggat tccaaggggt gcttttgaga
     1021 ggaagatgtc ttacgattgg tcccagttca atactctgta tctccgtgta cgtggggatg
     1081 gtcggccttg gatggtgaat atcaaggagg acacagattt cttccagagg acgaatcaga
     1141 tgtatagtta cttcatgttc acccgcgggg gaccctactg gcaggaggtc aagattcctt
     1201 tttccaaatt tttcttctct aatcgaggaa gaatccggga tgttcagcat gagcttccgc
     1261 ttgataagat ctcttctata ggattcacct tggctgataa agtggatggt ccattcttcc
     1321 tggagataga ttttattggc gtgtttactg atccagctca tacagaagaa tttgcctatg
     1381 aaaattctcc agagcttaac ccaaggcttt ttaaataaag atcatatggt agttttgttt
     1441 tactaatcta agggtactag catctacaat gatatagaca aaataaaata tttctttaat
     1501 ggcatccaa
//
