LOCUS       NM_199069                902 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            3 (NDUFAF3), transcript variant 1, mRNA.
ACCESSION   NM_199069
VERSION     NM_199069.2
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 902)
  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 902)
  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   3  (bases 1 to 902)
  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 902)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (bases 1 to 902)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 902)
  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 902)
  AUTHORS   Wessels,H.J., Vogel,R.O., van den Heuvel,L., Smeitink,J.A.,
            Rodenburg,R.J., Nijtmans,L.G. and Farhoud,M.H.
  TITLE     LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of
            protein complexes
  JOURNAL   Proteomics 9 (17), 4221-4228 (2009)
   PUBMED   19688755
REFERENCE   8  (bases 1 to 902)
  AUTHORS   Saada,A., Vogel,R.O., Hoefs,S.J., van den Brand,M.A., Wessels,H.J.,
            Willems,P.H., Venselaar,H., Shaag,A., Barghuti,F., Reish,O.,
            Shohat,M., Huynen,M.A., Smeitink,J.A., van den Heuvel,L.P. and
            Nijtmans,L.G.
  TITLE     Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4
            (C6ORF66)-interacting complex I assembly protein, cause fatal
            neonatal mitochondrial disease
  JOURNAL   Am J Hum Genet 84 (6), 718-727 (2009)
   PUBMED   19463981
  REMARK    GeneRIF: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4
            (C6ORF66)-interacting complex I assembly protein, cause fatal
            neonatal mitochondrial disease.
REFERENCE   9  (bases 1 to 902)
  AUTHORS   Hammami-Hamza,S., Doussau,M., Allemand,I., Segretain,D., Gasc,J.M.
            and Finaz,C.
  TITLE     2P1, a novel male mouse cDNA specifically expressed during meiosis
  JOURNAL   Int J Dev Biol 47 (1), 71-76 (2003)
   PUBMED   12653254
  REMARK    GeneRIF: Describes a similar transcript in mouse.
REFERENCE   10 (bases 1 to 902)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002873.2 and AA907148.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_199069.1.
            
            Summary: This gene encodes a mitochondrial complex I assembly
            protein that interacts with complex I subunits. Mutations in this
            gene cause mitochondrial complex I deficiency, a fatal neonatal
            disorder of the oxidative phosphorylation system. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            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 :: SRR1660805.313310.1,
                                           SRR1803616.320340.1 [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. :: PMID: 19463981; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000326925.11/
                                                  ENSP00000323076.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-694               BC002873.2         31-724
            695-902             AA907148.1         6-213               c
FEATURES             Location/Qualifiers
     source          1..902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..902
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 3"
                     /db_xref="GeneID:25915"
                     /db_xref="HGNC:HGNC:29918"
                     /db_xref="MIM:612911"
     exon            1..101
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..579
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; nuclear protein E3-3; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH
                     dehydrogenase (ubiquinone) complex I, assembly factor 3"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex assembly factor 3 isoform a precursor"
                     /protein_id="NP_951032.1"
                     /db_xref="CCDS:CCDS2784.1"
                     /db_xref="GeneID:25915"
                     /db_xref="HGNC:HGNC:29918"
                     /db_xref="MIM:612911"
                     /translation="MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQR
                     TRISLLQREAAQAMYIDSYNSRGFMINGNRVLGPCALLPHSVVQWNVGSHQDITEDSF
                     SLFWLLEPRIEIVVVGTGDRTERLQSQVLQAMRQRGIAVEVQDTPNACATFNFLCHEG
                     RVTGAALIPPPGGTSLTSLGQAAQ"
     exon            102..294
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /inference="alignment:Splign:2.1.0"
     exon            295..361
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /inference="alignment:Splign:2.1.0"
     exon            362..462
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /inference="alignment:Splign:2.1.0"
     exon            463..902
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      674..679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /note="hexamer: AATAAT"
     polyA_site      695
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
                     /note="major polyA site"
     polyA_site      902
                     /gene="NDUFAF3"
                     /gene_synonym="2P1; C3orf60; E3-3; MC1DN18"
ORIGIN      
        1 gacttcgccg cgcgttggtc agccatggcc accgctctcg cgctacgtag cttgtaccga
       61 gcgcgaccct cgctgcgctg tccgcccgtt gagcttccct gggccccgcg gcgagggcat
      121 cggctctcgc cggcggatga cgagctgtat cagcggacgc gcatctctct gctgcaacgc
      181 gaggccgctc aggcaatgta catcgacagc tacaacagcc gcggcttcat gataaacgga
      241 aaccgcgtgc tcggcccctg cgctctgctc ccgcactcgg tggtgcagtg gaacgtggga
      301 tcccaccagg acatcaccga agacagcttt tccctcttct ggttgctgga gccccggata
      361 gagatcgtgg tggtggggac tggagaccgg accgagaggc tgcagtccca ggtgcttcaa
      421 gccatgaggc agcggggcat tgctgtggaa gtgcaggaca cgcccaatgc ctgtgccacc
      481 ttcaacttcc tgtgtcatga aggccgagta actggagctg ctctcatccc tccaccagga
      541 gggacttcac ttacatcttt gggccaagct gctcaatgaa ccgccaggaa ctgacctgct
      601 gactgcactc tgccaggctt cccaatgctt tcactcttat ctaccctttg gcacttatct
      661 tgcttatcaa cataataatt tatacacttc tcccattttg tatcaggtgt gttgctggcc
      721 aggagctgat ggctcactgg gctcttggag gggaatgtga agaaaccaag gagtcacttt
      781 ttcatctaga ttacttagga ttccttgact tttcagaagt cgggaagcag tatgtttgcc
      841 tgttgtagac ctacttgctc acatgcagat ttgagaggac ctcaacggct tttctcacaa
      901 aa
//
