LOCUS       NM_174889                632 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            2 (NDUFAF2), mRNA.
ACCESSION   NM_174889
VERSION     NM_174889.5
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 632)
  AUTHORS   Lo,C.H., Liu,Z., Chen,S., Lin,F., Berneshawi,A.R., Yu,C.Q.,
            Koo,E.B., Kowal,T.J., Ning,K., Hu,Y., Wang,W.J., Liao,Y.J. and
            Sun,Y.
  TITLE     Primary cilia formation requires the Leigh syndrome-associated
            mitochondrial protein NDUFAF2
  JOURNAL   J Clin Invest 134 (13), e175560 (2024)
   PUBMED   38949024
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 632)
  AUTHORS   Sabharwal,A., Gupta,V., Kv,S., Kumar Manokaran,R., Verma,A.,
            Mishra,A., Bhoyar,R.C., Jain,A., Sivadas,A., Rawat,S., Jolly,B.,
            Mohanty,S., Gulati,S., Gupta,N., Kabra,M., Scaria,V. and
            Sivasubbu,S.
  TITLE     Whole genome sequencing followed by functional analysis of genomic
            deletion encompassing ERCC8 and NDUFAF2 genes in a
            non-consanguineous Indian family reveals dysfunctional
            mitochondrial bioenergetics leading to infant mortality
  JOURNAL   Mitochondrion 75, 101844 (2024)
   PUBMED   38237647
  REMARK    GeneRIF: Whole genome sequencing followed by functional analysis of
            genomic deletion encompassing ERCC8 and NDUFAF2 genes in a
            non-consanguineous Indian family reveals dysfunctional
            mitochondrial bioenergetics leading to infant mortality.
REFERENCE   3  (bases 1 to 632)
  AUTHORS   Park,S., Trujillo-Hernandez,J.A. and Levine,R.L.
  TITLE     Ndufaf2, a protein in mitochondrial complex I, interacts in vivo
            with methionine sulfoxide reductases
  JOURNAL   Redox Rep 28 (1), 2168635 (2023)
   PUBMED   36738241
  REMARK    GeneRIF: Ndufaf2, a protein in mitochondrial complex I, interacts
            in vivo with methionine sulfoxide reductases.
REFERENCE   4  (bases 1 to 632)
  AUTHORS   Zou,K., Gao,P., Xu,X., Zhang,W. and Zeng,Z.
  TITLE     Upregulation of NDUFAF2 in Lung Adenocarcinoma Is a Novel
            Independent Prognostic Biomarker
  JOURNAL   Comput Math Methods Med 2023, 2912968 (2023)
   PUBMED   36703939
  REMARK    GeneRIF: Upregulation of NDUFAF2 in Lung Adenocarcinoma Is a Novel
            Independent Prognostic Biomarker.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 632)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   6  (bases 1 to 632)
  AUTHORS   Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St
            Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
  TITLE     Polymorphisms in mitochondrial genes and prostate cancer risk
  JOURNAL   Cancer Epidemiol Biomarkers Prev 17 (12), 3558-3566 (2008)
   PUBMED   19064571
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 632)
  AUTHORS   Vogel,R.O., van den Brand,M.A., Rodenburg,R.J., van den
            Heuvel,L.P., Tsuneoka,M., Smeitink,J.A. and Nijtmans,L.G.
  TITLE     Investigation of the complex I assembly chaperones B17.2L and
            NDUFAF1 in a cohort of CI deficient patients
  JOURNAL   Mol Genet Metab 91 (2), 176-182 (2007)
   PUBMED   17383918
  REMARK    GeneRIF: B17.2L occurred in a 830 kDa subcomplex specifically in
            patients with mutations in subunits NDUFV1 and NDUFS4
REFERENCE   8  (bases 1 to 632)
  AUTHORS   Ogilvie,I., Kennaway,N.G. and Shoubridge,E.A.
  TITLE     A molecular chaperone for mitochondrial complex I assembly is
            mutated in a progressive encephalopathy
  JOURNAL   J Clin Invest 115 (10), 2784-2792 (2005)
   PUBMED   16200211
REFERENCE   9  (bases 1 to 632)
  AUTHORS   Tsuneoka,M., Teye,K., Arima,N., Soejima,M., Otera,H., Ohashi,K.,
            Koga,Y., Fujita,H., Shirouzu,K., Kimura,H. and Koda,Y.
  TITLE     A novel Myc-target gene, mimitin, that is involved in cell
            proliferation of esophageal squamous cell carcinoma
  JOURNAL   J Biol Chem 280 (20), 19977-19985 (2005)
   PUBMED   15774466
  REMARK    GeneRIF: the novel gene mimitin is a direct transcriptional target
            of c-Myc, and is involved in Myc-dependent cell proliferation in
            esophageal squamous cell carcinoma cells
REFERENCE   10 (bases 1 to 632)
  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 AK026051.1, AC022445.6 and
            BC001753.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_174889.4.
            
            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 cause progressive encephalopathy resulting from mitochondrial
            complex I deficiency. [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 :: AF087990.1, SRR1163655.664687.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 16200211; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000296597.10/
                                                  ENSP00000296597.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AK026051.1         77-186
            111-111             AC022445.6         93995-93995         c
            112-632             BC001753.1         110-630
FEATURES             Location/Qualifiers
     source          1..632
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.1"
     gene            1..632
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 2"
                     /db_xref="GeneID:91942"
                     /db_xref="HGNC:HGNC:28086"
                     /db_xref="MIM:609653"
     exon            1..178
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..561
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /note="Myc-induced mitochondrial protein; mimitin,
                     mitochondrial; NDUFA12-like protein; NADH dehydrogenase
                     (ubiquinone) 1 alpha subcomplex, assembly factor 2; NADH
                     dehydrogenase 1 alpha subcomplex assembly factor 2; NADH
                     dehydrogenase (ubiquinone) complex I, assembly factor 2"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex assembly factor 2"
                     /protein_id="NP_777549.1"
                     /db_xref="CCDS:CCDS3979.1"
                     /db_xref="GeneID:91942"
                     /db_xref="HGNC:HGNC:28086"
                     /db_xref="MIM:609653"
                     /translation="MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQ
                     TIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKS
                     QDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWM
                     PRDGKSHNQ"
     exon            179..268
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /inference="alignment:Splign:2.1.0"
     exon            269..309
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /inference="alignment:Splign:2.1.0"
     exon            310..632
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      612..617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /note="hexamer: AATAAA"
     polyA_site      632
                     /gene="NDUFAF2"
                     /gene_synonym="B17.2L; MC1DN10; mimitin; MMTN; NDUFA12L"
                     /note="major polyA site"
ORIGIN      
        1 acccctactg cgggtcccgc tgctggcagc gctggaaact gggtggacgg catgggttgg
       61 tctcaggatt tgttccgcgc cttgtggaga tcgctgtcaa gggaagtgaa ggagcacgtg
      121 ggcacggacc aattcgggaa caaatactac tacatcccgc agtacaagaa ctggagagga
      181 caaactattc gagagaaaag aattgtagaa gcagcaaata aaaaagaagt agactatgaa
      241 gcaggggata ttccaacaga atgggaagct tggattagaa gaacaagaaa gactccacct
      301 actatggagg aaatactaaa gaatgaaaaa cacagagaag aaatcaaaat aaaaagccaa
      361 gatttttatg aaaaagaaaa actccttagt aaagagacca gtgaggaact cctgcctcca
      421 ccagttcaaa ctcaaattaa aggccatgcc tctgctccat actttggaaa ggaagaaccc
      481 tcagtggctc ccagcagcac tggtaaaacc tttcagccag gatcctggat gccacgagat
      541 ggcaagagcc acaatcaatg aatgcattat ggtcaaatct tttcatgtat atggatgtga
      601 ctattttaac aaataaaaga agtgaaaagt ta
//
