LOCUS       NM_004541                421 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit A1 (NDUFA1),
            mRNA.
ACCESSION   NM_004541
VERSION     NM_004541.4
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 421)
  AUTHORS   Huttula,S., Vayrynen,H., Helisalmi,S., Kytovuori,L., Luukkainen,L.,
            Hiltunen,M., Remes,A.M. and Kruger,J.
  TITLE     NDUFA1 p.Gly32Arg variant in early-onset dementia
  JOURNAL   Neurobiol Aging 114, 113-116 (2022)
   PUBMED   35131137
  REMARK    GeneRIF: NDUFA1 p.Gly32Arg variant in early-onset dementia.
REFERENCE   2  (bases 1 to 421)
  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 421)
  AUTHORS   Signes,A. and Fernandez-Vizarra,E.
  TITLE     Assembly of mammalian oxidative phosphorylation complexes I-V and
            supercomplexes
  JOURNAL   Essays Biochem 62 (3), 255-270 (2018)
   PUBMED   30030361
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 421)
  AUTHORS   Guo,R., Zong,S., Wu,M., Gu,J. and Yang,M.
  TITLE     Architecture of Human Mitochondrial Respiratory Megacomplex
            I2III2IV2
  JOURNAL   Cell 170 (6), 1247-1257 (2017)
   PUBMED   28844695
REFERENCE   5  (bases 1 to 421)
  AUTHORS   Stroud,D.A., Surgenor,E.E., Formosa,L.E., Reljic,B., Frazier,A.E.,
            Dibley,M.G., Osellame,L.D., Stait,T., Beilharz,T.H., Thorburn,D.R.,
            Salim,A. and Ryan,M.T.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   6  (bases 1 to 421)
  AUTHORS   Au,H.C., Seo,B.B., Matsuno-Yagi,A., Yagi,T. and Scheffler,I.E.
  TITLE     The NDUFA1 gene product (MWFE protein) is essential for activity of
            complex I in mammalian mitochondria
  JOURNAL   Proc Natl Acad Sci U S A 96 (8), 4354-4359 (1999)
   PUBMED   10200266
REFERENCE   7  (bases 1 to 421)
  AUTHORS   Loeffen,J.L., Triepels,R.H., van den Heuvel,L.P., Schuelke,M.,
            Buskens,C.A., Smeets,R.J., Trijbels,J.M. and Smeitink,J.A.
  TITLE     cDNA of eight nuclear encoded subunits of NADH:ubiquinone
            oxidoreductase: human complex I cDNA characterization completed
  JOURNAL   Biochem Biophys Res Commun 253 (2), 415-422 (1998)
   PUBMED   9878551
REFERENCE   8  (bases 1 to 421)
  AUTHORS   Frattini,A., Faranda,S., Bagnasco,L., Patrosso,C., Nulli,P.,
            Zucchi,I. and Vezzoni,P.
  TITLE     Identification of a new member (ZNF183) of the Ring finger gene
            family in Xq24-25
  JOURNAL   Gene 192 (2), 291-298 (1997)
   PUBMED   9224902
REFERENCE   9  (bases 1 to 421)
  AUTHORS   Zhuchenko,O., Wehnert,M., Bailey,J., Sun,Z.S. and Lee,C.C.
  TITLE     Isolation, mapping, and genomic structure of an X-linked gene for a
            subunit of human mitochondrial complex I
  JOURNAL   Genomics 37 (3), 281-288 (1996)
   PUBMED   8938439
REFERENCE   10 (bases 1 to 421)
  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 AC002477.1 and BC000266.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004541.3.
            
            Summary: The human NDUFA1 gene codes for an essential component of
            complex I of the respiratory chain, which transfers electrons from
            NADH to ubiquinone. It has been noted that the N-terminal
            hydrophobic domain has the potential to be folded into an
            alpha-helix spanning the inner mitochondrial membrane with a
            C-terminal hydrophilic domain interacting with globular subunits of
            complex I. The highly conserved two-domain structure suggests that
            this feature is critical for the protein function and might act as
            an anchor for the NADH:ubiquinone oxidoreductase complex at the
            inner mitochondrial membrane. However, the NDUFA1 peptide is one of
            about 31 components of the 'hydrophobic protein' (HP) fraction of
            complex I which is involved in proton translocation. Thus the
            NDUFA1 peptide may also participate in that function. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR5189658.187689.1, AV682711.1
                                           [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                 :: ENST00000371437.5/
                                                  ENSP00000360492.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AC002477.1         48357-48398
            43-421              BC000266.1         1-379
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..421
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /note="NADH:ubiquinone oxidoreductase subunit A1"
                     /db_xref="GeneID:4694"
                     /db_xref="HGNC:HGNC:7683"
                     /db_xref="MIM:300078"
     exon            1..182
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..293
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /EC_number="1.6.99.3"
                     /note="type I dehydrogenase; NADH:ubiquinone
                     oxidoreductase (complex 1); complex I MWFE subunit; NADH
                     dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa;
                     NADH-ubiquinone oxidoreductase MWFE subunit"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 1"
                     /protein_id="NP_004532.1"
                     /db_xref="CCDS:CCDS14590.1"
                     /db_xref="GeneID:4694"
                     /db_xref="HGNC:HGNC:7683"
                     /db_xref="MIM:300078"
                     /translation="MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYH
                     WSLMERDRRISGVDRYYVSKGLENID"
     exon            183..272
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /inference="alignment:Splign:2.1.0"
     exon            273..421
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /inference="alignment:Splign:2.1.0"
     regulatory      400..405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /note="hexamer: AATAAA"
     polyA_site      421
                     /gene="NDUFA1"
                     /gene_synonym="CI-MWFE; MC1DN12; MWFE; ZNF183"
                     /note="major polyA site"
ORIGIN      
        1 gcttgctggg aagagaggcg aagccaggtc acctttcaag gacccagaag tagggttttg
       61 gcctaggtaa cggggcagag atgtggttcg agattctccc cggactctcc gtcatgggcg
      121 tgtgcttgtt gattccagga ctggctactg cgtacatcca caggttcact aacgggggca
      181 aggaaaaaag ggttgctcat tttgggtatc actggagtct gatggaaaga gataggcgca
      241 tctctggagt tgatcgttac tatgtgtcaa agggtttgga gaacattgat taaggaagca
      301 ttttcctgat tgatgaaaaa aataactcag ttatggccat ctacccctgc tagaaggtta
      361 cagtgtatta tgtagcatgc aatgtgttat gtagtgctta ataaaaataa aatgaaaaaa
      421 a
//
