LOCUS       NM_014165               2407 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            4 (NDUFAF4), mRNA.
ACCESSION   NM_014165
VERSION     NM_014165.4
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 2407)
  AUTHORS   Long,T., Li,J., Yin,T., Liu,K., Wang,Y., Long,J., Wang,J. and
            Cheng,L.
  TITLE     A genetic variant in gene NDUFAF4 confers the risk of non-small
            cell lung cancer by perturbing hsa-miR-215 binding
  JOURNAL   Mol Carcinog 63 (1), 145-159 (2024)
   PUBMED   37787384
  REMARK    GeneRIF: A genetic variant in gene NDUFAF4 confers the risk of
            non-small cell lung cancer by perturbing hsa-miR-215 binding.
REFERENCE   2  (bases 1 to 2407)
  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 2407)
  AUTHORS   Pan,W., Shen,Z., Wang,H. and He,H.
  TITLE     The host cellular protein Ndufaf4 interacts with the vesicular
            stomatitis virus M protein and affects viral propagation
  JOURNAL   Virus Genes 57 (3), 250-257 (2021)
   PUBMED   33635491
REFERENCE   4  (bases 1 to 2407)
  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   5  (bases 1 to 2407)
  AUTHORS   Ugarteburu,O., Teresa Garcia-Silva,M., Aldamiz-Echevarria,L.,
            Gort,L., Garcia-Villoria,J., Tort,F. and Ribes,A.
  TITLE     Complex I deficiency, due to NDUFAF4 mutations, causes severe
            mitochondrial dysfunction and is associated to early death and
            dysmorphia
  JOURNAL   Mitochondrion 55, 78-84 (2020)
   PUBMED   32949790
  REMARK    GeneRIF: Complex I deficiency, due to NDUFAF4 mutations, causes
            severe mitochondrial dysfunction and is associated to early death
            and dysmorphia.
REFERENCE   6  (bases 1 to 2407)
  AUTHORS   Saada,A., Edvardson,S., Rapoport,M., Shaag,A., Amry,K., Miller,C.,
            Lorberboum-Galski,H. and Elpeleg,O.
  TITLE     C6ORF66 is an assembly factor of mitochondrial complex I
  JOURNAL   Am J Hum Genet 82 (1), 32-38 (2008)
   PUBMED   18179882
  REMARK    GeneRIF: Homozygosity mapping of 5 patients from a consanguineous
            family with infantile mitochondrial encephalomyopathy resulted in
            the identification of a missense mutation in a conserved residue of
            the C6ORF66.
REFERENCE   7  (bases 1 to 2407)
  AUTHORS   Tozlu-Kara,S., Roux,V., Andrieu,C., Vendrell,J., Vacher,S.,
            Lazar,V., Spyratos,F., Tubiana-Hulin,M., Cohen,P., Dessen,P.,
            Lidereau,R. and Bieche,I.
  TITLE     Oligonucleotide microarray analysis of estrogen receptor
            alpha-positive postmenopausal breast carcinomas: identification of
            HRPAP20 and TIMELESS as outstanding candidate markers to predict
            the response to tamoxifen
  JOURNAL   J Mol Endocrinol 39 (4), 305-318 (2007)
   PUBMED   17909269
  REMARK    GeneRIF: HRPAP20 and TIMELESS as promising markers of tamoxifen
            resistance in women with ER alpha-positive breast tumors.
REFERENCE   8  (bases 1 to 2407)
  AUTHORS   Karp,C.M., Shukla,M.N., Buckley,D.J. and Buckley,A.R.
  TITLE     HRPAP20: a novel calmodulin-binding protein that increases breast
            cancer cell invasion
  JOURNAL   Oncogene 26 (12), 1780-1788 (2007)
   PUBMED   17001319
  REMARK    GeneRIF: observations suggest that HRPAP20 may be an important
            regulator of breast tumor cell invasion by a CaM-mediated mechanism
            that leads to increased MMP-9 secretion
REFERENCE   9  (bases 1 to 2407)
  AUTHORS   Karp,C.M., Pan,H., Zhang,M., Buckley,D.J., Schuler,L.A. and
            Buckley,A.R.
  TITLE     Identification of HRPAP20: a novel phosphoprotein that enhances
            growth and survival in hormone-responsive tumor cells
  JOURNAL   Cancer Res 64 (3), 1016-1025 (2004)
   PUBMED   14871833
REFERENCE   10 (bases 1 to 2407)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB253189.1, BC018802.1 and
            AL159985.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014165.3.
            
            Summary: NADH:ubiquinone oxidoreductase (complex I) 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.
            This gene encodes a complex I assembly factor. Mutations in this
            gene are a cause of mitochondrial complex I deficiency. [provided
            by RefSeq, Oct 2009].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.801582.1,
                                           SRR1660809.258294.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000316149.8/
                                                  ENSP00000358272.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DB253189.1         1-14
            15-509              BC018802.1         1-495
            510-2407            AL159985.11        88969-90866         c
FEATURES             Location/Qualifiers
     source          1..2407
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     gene            1..2407
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 4"
                     /db_xref="GeneID:29078"
                     /db_xref="HGNC:HGNC:21034"
                     /db_xref="MIM:611776"
     exon            1..226
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..618
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /note="hormone-regulated proliferation-associated protein,
                     20 kDa; hormone-regulated proliferation-associated protein
                     of 20 kDa; NADH dehydrogenase (ubiquinone) 1 alpha
                     subcomplex, assembly factor 4; NADH dehydrogenase
                     (ubiquinone) complex I, assembly factor 4"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex assembly factor 4"
                     /protein_id="NP_054884.1"
                     /db_xref="CCDS:CCDS5037.1"
                     /db_xref="GeneID:29078"
                     /db_xref="HGNC:HGNC:21034"
                     /db_xref="MIM:611776"
                     /translation="MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQI
                     SLYPEVKGEIARKDEKLLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFD
                     MINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFE
                     VEIFPPEDKKAIRSK"
     exon            227..330
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /inference="alignment:Splign:2.1.0"
     exon            331..2407
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /inference="alignment:Splign:2.1.0"
     regulatory      688..693
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /note="hexamer: AATAAA"
     polyA_site      710
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /note="major polyA site"
     regulatory      2384..2389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
                     /note="hexamer: AATAAA"
     polyA_site      2407
                     /gene="NDUFAF4"
                     /gene_synonym="bA22L21.1; C6orf66; HRPAP20; HSPC125;
                     MC1DN15; My013"
ORIGIN      
        1 acttgtgcgc atgctccggg tgtcccggag ttgtcctgcg ccggtgttcc cacgtgcggc
       61 ctgaacctga gcgcataatg ttatgaggag atgggagcac tagtgattcg cggtatcagg
      121 aatttcaacc tagagaaccg agcggaacgg gaaatcagca agatgaagcc ctctgtcgct
      181 cccagacacc cctctaccaa cagcctcctg cgagagcaga ttagtctcta tccagaagtt
      241 aaaggagaga ttgctcgtaa agatgaaaag ctgctgtcgt ttctaaaaga tgtgtatgtt
      301 gattccaaag atcctgtgtc ttccttgcag gtaaaagctg ctgaaacatg tcaagagccg
      361 aaggaattca gattgccgaa agaccatcat tttgatatga taaatattaa gagcattccc
      421 aaaggcaaaa tttccattgt agaagcattg acacttctca ataatcataa gcttttccca
      481 gaaacctgga ctgctgagaa aataatgcag gaataccagt tagaacagaa agatgtgaat
      541 tctcttctta aatattttgt tacttttgaa gtcgaaatct tccctcctga agacaagaaa
      601 gcaatacgat caaaatgaag aaaatcacag aaatttccta tgtgtactcc tcatccctcc
      661 tgctgtatat tttctcattt tttgcgtaat aaattatgtt aattaccaaa tatttaatgc
      721 tctcattgtg agggcatact cttaatattt attgagctcc ctgacttttc aagattgcca
      781 tagaatatct tttgttttat tttaatttgg tttaggcata tttcataagt gcatgtcagc
      841 atgactgagc acatctgtac ctttattatg gtgaaagagt taatttgtta ttttaggcac
      901 atataccaac ttttaaattg gtcatattac cccttgggaa atgtcctgaa tccctcaact
      961 gagttttact ttccaagtta ggtgtttagt tcattcttct catgcgatag tgaaagtaaa
     1021 agctttcctg acccttaaga ctgacatttt ctcgttaggg aaagagactc gatagcaggg
     1081 tagactaaca gtagttccca aataaaggca cacaggagaa aatgaatcaa tagaatctaa
     1141 ttaaaattac tactccaggg aataagaagt attgaggatt tattttattt tgaattggtt
     1201 ttaagtatgg aataattgtc tttacagtta taaaaagtaa ttagtggtgt ttacaaaatg
     1261 ttgggaattt ctgctttgac agataggtaa gtcccatggg aatttctgct ttgacaaata
     1321 gttaagtccc atggccttca gagaggcagg aagcagaaac tttcaaaaaa gtaacatttc
     1381 tctggattta atgtggaaat agagaaaaat ttaaagaata attaaaaaac catggtagat
     1441 gaaatttggt gattacatat agtttcggat gttaatgcta gttgagagaa gagaaaaaga
     1501 tagcaagtag aagcagagaa caggatcatt ggaagggacc tgagaaattg ccatttcatc
     1561 cattttagca aatttaatta gcatagcatg taccagtact aggatcttga gtgagtgtgt
     1621 gagtttagct ctgcctaata tattactact tgggggatct ttgggagact atatcttctt
     1681 ggagattgag tttcttctat aaaataagca taatgctacc ctaaatgtaa gggttatcat
     1741 gaagataaat aataaaggac tacaaaggac caagcaaata ggaattattt tttgcggtgg
     1801 agaaacaagt gcctggggag aatatatgac cgaagattct gtagtttatg acttaaacag
     1861 gcccagaatt tagtttttca aatcctagta gtgtgttttt tctgtcttgc caaaaagcag
     1921 cacacctcaa agaagggaaa aggtgtgaat tgtgggtata ttagggttat tagtgcttcc
     1981 gagggaagat aggcatcact acttcccaga gatgcccctg gaaatgatat agaggatgtt
     2041 gaagaattca atgtgatgac ggaatgaggc atttgtagta atgctgagaa cagaaaaatg
     2101 gactaagtgg aaaatttgta agcatgactt tgaatgtaga tttgttatgt gaacaaacta
     2161 cctagtttat ttttagttca atacaataat tgttttaaga aaacatgaaa taactactca
     2221 atataaaatg cattttaaaa ctgtaaataa gtcaaaactt tattcttttt atcataatgg
     2281 tcactagctg agtcacaaat actagtacac tcttctgagc catcttcttt attcatatct
     2341 acattgtgtg gttaggcatc tgttatgtgg tgtcacatga taaaataaag aacttcttcc
     2401 catacca
//
