LOCUS       NM_001086521             565 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            8 (NDUFAF8), transcript variant 2, mRNA.
ACCESSION   NM_001086521 XM_934620 XM_946242
VERSION     NM_001086521.2
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 565)
  AUTHORS   Peker,E., Weiss,K., Song,J., Zarges,C., Gerlich,S., Boehm,V.,
            Trifunovic,A., Langer,T., Gehring,N.H., Becker,T. and Riemer,J.
  TITLE     A two-step mitochondrial import pathway couples the disulfide relay
            with matrix complex I biogenesis
  JOURNAL   J Cell Biol 222 (7) (2023)
   PUBMED   37159021
REFERENCE   2  (bases 1 to 565)
  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 565)
  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 565)
  AUTHORS   Alston,C.L., Veling,M.T., Heidler,J., Taylor,L.S., Alaimo,J.T.,
            Sung,A.Y., He,L., Hopton,S., Broomfield,A., Pavaine,J., Diaz,J.,
            Leon,E., Wolf,P., McFarland,R., Prokisch,H., Wortmann,S.B.,
            Bonnen,P.E., Wittig,I., Pagliarini,D.J. and Taylor,R.W.
  TITLE     Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome
            with an Isolated Complex I Deficiency
  JOURNAL   Am J Hum Genet 106 (1), 92-101 (2020)
   PUBMED   31866046
  REMARK    GeneRIF: Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh
            Syndrome with an Isolated Complex I Deficiency.
REFERENCE   5  (bases 1 to 565)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 565)
  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   7  (bases 1 to 565)
  AUTHORS   Molina,H., Horn,D.M., Tang,N., Mathivanan,S. and Pandey,A.
  TITLE     Global proteomic profiling of phosphopeptides using electron
            transfer dissociation tandem mass spectrometry
  JOURNAL   Proc Natl Acad Sci U S A 104 (7), 2199-2204 (2007)
   PUBMED   17287340
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC127837.1, AA534550.1 and AC027601.25.
            
            On Nov 23, 2018 this sequence version replaced NM_001086521.1.
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction compared to variant 1, that causes a frameshift. The
            resulting isoform (2) has a shorter and distinct C-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC079831.1, SRR1163658.202319.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000431388.3/ ENSP00000400184.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-336               BC127837.1         8-343
            337-553             AA534550.1         163-379
            554-565             AC027601.25        88669-88680
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..565
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 8"
                     /db_xref="GeneID:284184"
                     /db_xref="HGNC:HGNC:33551"
                     /db_xref="MIM:618461"
     exon            1..130
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..271
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /note="isoform 2 is encoded by transcript variant 2; NADH
                     dehydrogenase [ubiquinone] 1 alpha subcomplex assembly
                     factor 8"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex assembly factor 8 isoform 2"
                     /protein_id="NP_001079990.1"
                     /db_xref="CCDS:CCDS45809.1"
                     /db_xref="GeneID:284184"
                     /db_xref="HGNC:HGNC:33551"
                     /db_xref="MIM:618461"
                     /translation="MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGG
                     RLSKDFCAREFEALRSCFAAAAKKTLEGGC"
     exon            131..241
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /inference="alignment:Splign:2.1.0"
     exon            242..565
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /inference="alignment:Splign:2.1.0"
     regulatory      512..517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /note="hexamer: GATAAA"
     polyA_site      536
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
                     /note="major polyA site"
     polyA_site      565
                     /gene="NDUFAF8"
                     /gene_synonym="C17orf89; MC1DN34"
ORIGIN      
        1 gacggaccta agatggcggc ctccaggggg ctgggaatag ccgctcatgt cggctaacgg
       61 agcggtgtgg ggccgcgtgc gaagccgcct ccgcgccttc cccgagcggc tggccgcctg
      121 cggggccgag gccgcggcgt acggcaggtg cgtgcaggcc tccacggccc cgggcggccg
      181 cctgagtaag gacttctgcg cgcgggagtt cgaggccctg cggagctgct tcgccgctgc
      241 ggccaagaag acgctggagg gaggctgtta ggagggactc tgagcttcac acctgtctgc
      301 tgccatgggt gcagagccct agtcctgatg gcccctggtg gcacatatcg aatgcctagg
      361 gcagaaagga agtgggaatg gcgaagatgt gacattcctc ggtgttagat cctgtttttt
      421 cttaacaagt tgaggcgtgg gtagagcagg aattggtttt ccagcattgt gtccgtaaac
      481 ctgagttaga ataagatgta acggaagcca cgataaagac tcggtcaaat cctgcagcct
      541 ggggcttact gtgtgcagac tgcaa
//
