LOCUS       NM_001394961             943 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens NDUFA4 mitochondrial complex associated like 2
            (NDUFA4L2), transcript variant 3, mRNA.
ACCESSION   NM_001394961
VERSION     NM_001394961.1
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 943)
  AUTHORS   Zhou,R., Sun,Z., Zhou,R., Wang,M., Zhuo,Q., Deng,X., Wang,Z. and
            Xu,Y.
  TITLE     Pancancer analysis of NDUFA4L2 with focused role in tumor
            progression and metastasis of colon adenocarcinoma
  JOURNAL   Med Oncol 41 (11), 285 (2024)
   PUBMED   39402288
  REMARK    GeneRIF: Pancancer analysis of NDUFA4L2 with focused role in tumor
            progression and metastasis of colon adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 943)
  AUTHORS   Kubala,J.M., Laursen,K.B., Schreiner,R., Williams,R.M., van der
            Mijn,J.C., Crowley,M.J., Mongan,N.P., Nanus,D.M., Heller,D.A. and
            Gudas,L.J.
  TITLE     NDUFA4L2 reduces mitochondrial respiration resulting in defective
            lysosomal trafficking in clear cell renal cell carcinoma
  JOURNAL   Cancer Biol Ther 24 (1), 2170669 (2023)
   PUBMED   36722045
  REMARK    GeneRIF: NDUFA4L2 reduces mitochondrial respiration resulting in
            defective lysosomal trafficking in clear cell renal cell carcinoma.
REFERENCE   3  (bases 1 to 943)
  AUTHORS   Zhou,L., Mao,L.H., Li,X., Wang,Q.L., Chen,S.Y., Chen,Z.J., Lei,J.,
            Liu,H.T., Liao,S.Q., Ran,T., Li,X.Q., Zhou,Z.H. and He,S.
  TITLE     Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib
            resistance by decreasing reactive oxygen species in hepatocellular
            carcinoma
  JOURNAL   Cancer Sci 114 (3), 793-805 (2023)
   PUBMED   36369883
  REMARK    GeneRIF: Transcriptional regulation of NDUFA4L2 by NFIB induces
            sorafenib resistance by decreasing reactive oxygen species in
            hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 943)
  AUTHORS   Mesa-Ciller,C., Turiel,G., Guajardo-Grence,A.,
            Lopez-Rodriguez,A.B., Egea,J., De Bock,K., Aragones,J. and
            Urrutia,A.A.
  TITLE     Unique expression of the atypical mitochondrial subunit NDUFA4L2 in
            cerebral pericytes fine tunes HIF activity in response to hypoxia
  JOURNAL   J Cereb Blood Flow Metab 43 (1), 44-58 (2023)
   PUBMED   35929074
  REMARK    GeneRIF: Unique expression of the atypical mitochondrial subunit
            NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response
            to hypoxia.
REFERENCE   5  (bases 1 to 943)
  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   6  (bases 1 to 943)
  AUTHORS   Lv,Y., Nie,S.L., Zhou,J.M., Liu,F., Hu,Y.B., Jiang,J.R., Li,N. and
            Liu,J.S.
  TITLE     Overexpression of NDUFA4L2 is associated with poor prognosis in
            patients with colorectal cancer
  JOURNAL   ANZ J Surg 87 (12), E251-E255 (2017)
   PUBMED   27226356
REFERENCE   7  (bases 1 to 943)
  AUTHORS   Liu,L., Lan,G., Peng,L., Xie,X., Peng,F., Yu,S., Wang,Y. and
            Tang,X.
  TITLE     NDUFA4L2 expression predicts poor prognosis in clear cell renal
            cell carcinoma patients
  JOURNAL   Ren Fail 38 (8), 1199-1205 (2016)
   PUBMED   27453328
  REMARK    GeneRIF: NDUFA4L2 expression levels were correlated with some
            clinical features of clear cell renal cell carcinoma (ccRCC).
            Multivariate analysis showed NDUFA4L2 expression was an independent
            prognostic factor for ccRCC patients.
REFERENCE   8  (bases 1 to 943)
  AUTHORS   Lai,R.K., Xu,I.M., Chiu,D.K., Tse,A.P., Wei,L.L., Law,C.T., Lee,D.,
            Wong,C.M., Wong,M.P., Ng,I.O. and Wong,C.C.
  TITLE     NDUFA4L2 Fine-tunes Oxidative Stress in Hepatocellular Carcinoma
  JOURNAL   Clin Cancer Res 22 (12), 3105-3117 (2016)
   PUBMED   26819450
  REMARK    GeneRIF: This study has provided the first clinical relevance of
            NDUFA4L2 in human cancer, and since NDUFA4L2 was HIF1-regulated in
            Hepatocellular carcinoma cells, suggested that Hepatocellular
            carcinoma patients with NDUFA4L2 overexpression may be suitable
            candidates for HIF inhibitor treatment.
REFERENCE   9  (bases 1 to 943)
  AUTHORS   Minton,D.R., Fu,L., Mongan,N.P., Shevchuk,M.M., Nanus,D.M. and
            Gudas,L.J.
  TITLE     Role of NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex 4-Like 2
            in Clear Cell Renal Cell Carcinoma
  JOURNAL   Clin Cancer Res 22 (11), 2791-2801 (2016)
   PUBMED   26783287
  REMARK    GeneRIF: NDUFA4L2 knockdown has a profound antiproliferative
            effect, alters metabolic pathways, and causes major stress in
            cultured clear cell renal cell carcinoma cells.
REFERENCE   10 (bases 1 to 943)
  AUTHORS   Tello,D., Balsa,E., Acosta-Iborra,B., Fuertes-Yebra,E., Elorza,A.,
            Ordonez,A., Corral-Escariz,M., Soro,I., Lopez-Bernardo,E.,
            Perales-Clemente,E., Martinez-Ruiz,A., Enriquez,J.A., Aragones,J.,
            Cadenas,S. and Landazuri,M.O.
  TITLE     Induction of the mitochondrial NDUFA4L2 protein by HIF-1alpha
            decreases oxygen consumption by inhibiting Complex I activity
  JOURNAL   Cell Metab 14 (6), 768-779 (2011)
   PUBMED   22100406
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC137834.9.
            
            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 :: AF164796.1, AL551328.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307, SAMEA2467144
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000554503.6/
                                                  ENSP00000450664.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                AC137834.9         55305-55380
            77-165              AC137834.9         55728-55816
            166-226             AC137834.9         56600-56660
            227-943             AC137834.9         56790-57506
FEATURES             Location/Qualifiers
     source          1..943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..943
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /note="NDUFA4 mitochondrial complex associated like 2"
                     /db_xref="GeneID:56901"
                     /db_xref="HGNC:HGNC:29836"
     exon            1..76
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..283
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /note="NADH:ubiquinone oxidoreductase MLRQ subunit
                     homolog; NADH dehydrogenase (ubiquinone) 1 alpha
                     subcomplex, 4-like 2; cytochrome c oxidase subunit FA4
                     like 2; mitochondrial stress response hypoxia"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 alpha
                     subcomplex subunit 4-like 2"
                     /protein_id="NP_001381890.1"
                     /db_xref="CCDS:CCDS8935.1"
                     /db_xref="GeneID:56901"
                     /db_xref="HGNC:HGNC:29836"
                     /translation="MAGASLGARFYRQIKRHPGIIPMIGLICLGMGSAALYLLRLALR
                     SPDVCWDRKNNPEPWNRLSPNDQYKFLAVSTDYKKLKKDRPDF"
     exon            77..165
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /inference="alignment:Splign:2.1.0"
     exon            166..226
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /inference="alignment:Splign:2.1.0"
     exon            227..943
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      918..923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /note="hexamer: AATACA"
     polyA_site      943
                     /gene="NDUFA4L2"
                     /gene_synonym="COXFA4L2; MISTRH; NUOMS"
                     /note="major polyA site"
ORIGIN      
        1 agactgggaa aacaacgata tggcaggagc cagtcttggg gcccgcttct accggcagat
       61 caaaagacat ccggggatca tcccgatgat cggcttaatc tgcctgggca tgggcagcgc
      121 tgcgctttac ttgctgcgac tcgcccttcg cagccccgac gtctgctggg acagaaagaa
      181 caacccggag ccctggaacc gcctgagccc caatgaccaa tacaagttcc ttgcagtttc
      241 cactgactat aagaagctga agaaggaccg gccagacttc taagccaggc tgggctgcca
      301 gtgccatgca agccacagcc agccagccca tccacttctt ccactcctcc ccgcaggccc
      361 caaggcatca ctccggccac cctgtcccgc tactgcttac acaggccggg ttcccacgca
      421 gaggggaggc tgctccaccc ctactctcct cccttgctcc cagcagcgga agcgcctctg
      481 acccttggct tgagtcccac gtgggggagg aggaggcagg cagcaccagc aggggtccac
      541 caagagccca gaccagcccc tctgccctcc tacccgggcc tcgaagggtg tggcacaggc
      601 tacgtgttga gcgtggccta cgtgagccaa caagaagcag gggcctctga gtgccaagcg
      661 acgtggcggg ctccacgtta gcccaggctc tgagagccag cccaggggcg gcgctgctca
      721 gcttgggctg gtccagggcc tgcccaggct ggggcacctt tgcctcctga ggcgcagcgc
      781 actcctcccc tgcccaagcc tactgcctcc cgctgccgcc agtaccccct ccagccccac
      841 acctgggcct ccccctgcca ctcccctccc ttgctcccct ctgtccccag ggatcaaaca
      901 gaagcagccg tgggcaaaat acaatttcat ttaacaaatt gaa
//
