LOCUS       NM_152416               1795 bp    mRNA    linear   PRI 11-DEC-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            6 (NDUFAF6), transcript variant 1, mRNA.
ACCESSION   NM_152416
VERSION     NM_152416.4
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 1795)
  AUTHORS   Sung,A.Y., Guerra,R.M., Steenberge,L.H., Alston,C.L., Murayama,K.,
            Okazaki,Y., Shimura,M., Prokisch,H., Ghezzi,D., Torraco,A.,
            Carrozzo,R., Rotig,A., Taylor,R.W., Keck,J.L. and Pagliarini,D.J.
  TITLE     Systematic analysis of NDUFAF6 in complex I assembly and
            mitochondrial disease
  JOURNAL   Nat Metab 6 (6), 1128-1142 (2024)
   PUBMED   38720117
  REMARK    GeneRIF: Systematic analysis of NDUFAF6 in complex I assembly and
            mitochondrial disease.
REFERENCE   2  (bases 1 to 1795)
  AUTHORS   Cristea,I., Abarca,H., Christensen Mellgren,A.E., Trubnykova,M.,
            Mehrasa,R., Peters,D.J.M., Houge,G., Hennekam,R.C.M., Rodahl,E.,
            Bruland,O. and Bredrup,C.
  TITLE     A Pellino-2 variant is associated with constitutive NLRP3
            inflammasome activation in a family with ocular pterygium-digital
            keloid dysplasia
  JOURNAL   FEBS Lett 597 (9), 1290-1299 (2023)
   PUBMED   36776133
REFERENCE   3  (bases 1 to 1795)
  AUTHORS   Cheng,Y., Li,Y., Liang,X., Wang,P., Fa,W., Liu,C., Wang,Y., Liu,K.,
            Wang,N. and Du,Y.
  TITLE     Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's
            Disease in Chinese Rural Elderly: A Cross-Sectional
            Population-Based Study
  JOURNAL   Clin Interv Aging 17, 185-194 (2022)
   PUBMED   35237031
  REMARK    GeneRIF: Genetic Effects of NDUFAF6 rs6982393 and APOE on
            Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional
            Population-Based Study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1795)
  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   5  (bases 1 to 1795)
  AUTHORS   McKenzie,M., Tucker,E.J., Compton,A.G., Lazarou,M., George,C.,
            Thorburn,D.R. and Ryan,M.T.
  TITLE     Mutations in the gene encoding C8orf38 block complex I assembly by
            inhibiting production of the mitochondria-encoded subunit ND1
  JOURNAL   J Mol Biol 414 (3), 413-426 (2011)
   PUBMED   22019594
  REMARK    GeneRIF: C8orf38 is a crucial factor required for the translation
            and/or integration of ND1 into an early-stage assembly intermediate
REFERENCE   6  (bases 1 to 1795)
  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 1795)
  AUTHORS   Mckenzie,M. and Ryan,M.T.
  TITLE     Assembly factors of human mitochondrial complex I and their defects
            in disease
  JOURNAL   IUBMB Life 62 (7), 497-502 (2010)
   PUBMED   20552642
  REMARK    Review article
REFERENCE   8  (bases 1 to 1795)
  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
REFERENCE   9  (bases 1 to 1795)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 1795)
  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 BM755491.1, AK298631.1,
            BF030925.1, DA897677.1 and AA489642.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152416.3.
            
            Summary: This gene encodes a protein that localizes to mitochondria
            and contains a predicted phytoene synthase domain. The encoded
            protein plays an important role in the assembly of complex I
            (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory
            chain through regulation of subunit ND1 biogenesis. Mutations in
            this gene are associated with complex I enzymatic deficiency.
            [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) 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 :: SRR1803611.178146.1,
                                           SRR1803615.116378.1 [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000396124.9/
                                                  ENSP00000379430.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                BM755491.1         4-80
            78-1037             AK298631.1         1-960
            1038-1038           BF030925.1         555-555
            1039-1370           DA897677.1         212-543
            1371-1795           AA489642.1         7-431               c
FEATURES             Location/Qualifiers
     source          1..1795
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..1795
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 6"
                     /db_xref="GeneID:137682"
                     /db_xref="HGNC:HGNC:28625"
                     /db_xref="MIM:612392"
     exon            1..217
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1022
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; putative phytoene synthase; UPF0551 protein
                     C8orf38, mitochondrial; NADH dehydrogenase (ubiquinone)
                     complex I, assembly factor 6; long non-coding RNA
                     REplication STress"
                     /codon_start=1
                     /product="NADH dehydrogenase (ubiquinone) complex I,
                     assembly factor 6 isoform 1 precursor"
                     /protein_id="NP_689629.2"
                     /db_xref="CCDS:CCDS6266.2"
                     /db_xref="GeneID:137682"
                     /db_xref="HGNC:HGNC:28625"
                     /db_xref="MIM:612392"
                     /translation="MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGR
                     SVAAASGPGAWGTDHYCLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKD
                     SVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDERE
                     KNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLR
                     ATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSF
                     HKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY"
     exon            218..317
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            318..440
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            441..497
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            498..600
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            601..734
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            735..836
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            837..893
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1795
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1018..1023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="hexamer: ATTAAA"
     regulatory      1023..1028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="hexamer: AATAAT"
     polyA_site      1037
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="major polyA site"
     polyA_site      1047
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
     regulatory      1774..1779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="hexamer: ATTAAA"
     polyA_site      1795
                     /gene="NDUFAF6"
                     /gene_synonym="C8orf38; FRTS5; lncREST; MC1DN17"
                     /note="major polyA site"
ORIGIN      
        1 gggcacgcag tgccggcgtc atggcggcct ccgcgcacgg ctctgtctgg gggccgttgc
       61 ggcttggcat ccccggcctg tgctgccgcc ggccgcctct gggtctgtac gcgcgcatgc
      121 ggcggctgcc cgggccggag gtgtctgggc ggagcgtggc tgcggccagc ggaccgggcg
      181 cctggggcac tgaccactac tgcctggagc tgctgcggaa acgggattat gaaggttatt
      241 tatgctccct gctgctccct gcagaatccc gaagctctgt ttttgcactg agggccttta
      301 atgtggaact ggctcaggtt aaagactcag tctctgagaa aacaattgga ctgatgcgaa
      361 tgcagttttg gaaaaaaact gtggaagata tatactgtga caatccacca catcagcctg
      421 tggccattga actatggaag gctgttaaaa gacataatct gactaaaaga tggcttatga
      481 aaatcgtcga tgaaagagaa aaaaatctgg atgacaaagc atatcgtaat atcaaggaac
      541 tggaaaatta tgctgaaaac acacagagct ctcttcttta cttaacacta gaaatattgg
      601 gtataaagga tcttcatgca gatcatgctg caagtcatat tggaaaagca caaggcattg
      661 tcacttgctt gagagcaaca ccatatcatg ggagcagaag aaaggtgttc cttcccatgg
      721 atatttgtat gctgcatggt gtttcacaag aggactttct acggaggaac caagataaaa
      781 atgtgagaga tgtaatatat gacattgcca gtcaagcaca cttgcaccta aagcatgcta
      841 ggtcctttca caaaactgtt cctgtgaaag catttcctgc ttttcttcag acggtttctc
      901 tagaggactt tctaaagaaa attcagcgag tggattttga tatattccac ccatctttac
      961 agcagaagaa tacattactt ccattatatt tgtatattca gtcatggaga aaaacatatt
     1021 aaaataattt catggcattg atgttaattc tagtctatta gttttataaa agttaggatt
     1081 cttatttagg aacaacagga aatgactgtt aaggagaaaa tgaatttatt gaatgggatg
     1141 tcaagtagct cacaaaattg agaagttgcc gtgggactag ggtgccaaga ctgctgagat
     1201 tctggcagag gcactgccat tggcacccct ggcccagaca gtgtctgctg tgctgtccct
     1261 ggaagctgga gctccaacag ggaatattgg tgtagctgtg cataggccat aagccacact
     1321 tgagccagtg ggcagggaga aggaatgtca ttctcccttc accactgggg aaggaaaggg
     1381 gaaagggctc aagttatcat aggggcttac atgctgagca gctataacct aggtgttcag
     1441 aacacctgga agatgcattt atttaggggt cacaaatagt gaaattaata tttgaggaat
     1501 atcagtcacg tgttgtgggc ttttatcctt aacgtttaat ttttacaatc ttgtgtaaaa
     1561 atttatccat gataataaca taacttcttt aaggttggag tggctggcaa gagcagagcc
     1621 ttaatttgac tttagctctg gctggtctgg aagcttttac ttttttgtta atcccacttc
     1681 ctcactctgt cattcagcat tatcatgatc gtgaacaaaa ttgtactgag aaagtttgta
     1741 taagtgatat gaacggtatt gtattgaaca tccattaaag ggttgctaca cttta
//
