LOCUS       NM_005390               1372 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens pyruvate dehydrogenase E1 subunit alpha 2 (PDHA2),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005390 XM_352954
VERSION     NM_005390.5
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 1372)
  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   2  (bases 1 to 1372)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1372)
  AUTHORS   Liu,Z., Yu,M., Fei,B., Fang,X., Ma,T. and Wang,D.
  TITLE     miR-21-5p targets PDHA1 to regulate glycolysis and cancer
            progression in gastric cancer
  JOURNAL   Oncol Rep 40 (5), 2955-2963 (2018)
   PUBMED   30226598
  REMARK    GeneRIF: Our results indicated that miR215p targeted PDHA1 to
            regulate a metabolic switch and cancer progression in gastric
            cancer, and reveal the potential role of the miR215p/PDHA1 axis in
            gastric cancer treatment
REFERENCE   4  (bases 1 to 1372)
  AUTHORS   Yildirim,Y., Ouriachi,T., Woehlbier,U., Ouahioune,W., Balkan,M.,
            Malik,S. and Tolun,A.
  TITLE     Linked homozygous BMPR1B and PDHA2 variants in a consanguineous
            family with complex digit malformation and male infertility
  JOURNAL   Eur J Hum Genet 26 (6), 876-885 (2018)
   PUBMED   29581481
  REMARK    GeneRIF: Our findings show that also recessive complex digit
            malformation can be caused by BMPR1B variant and not all biallelic
            BMPR1B variants cause acromesomelic dysplasia. PDHA2 is a novel
            candidate gene for male infertility; the protein product is a
            mitochondrial enzyme with highest expression in ejaculated sperm.
REFERENCE   5  (bases 1 to 1372)
  AUTHORS   Jiang,Y., Wang,J., Zhang,G., Oza,K., Myers,L., Holbert,M.A. and
            Sweitzer,S.
  TITLE     Component co-expression and purification of recombinant human
            pyruvate dehydrogenase complex from baculovirus infected SF9 cells
  JOURNAL   Protein Expr Purif 97, 9-16 (2014)
   PUBMED   24534072
REFERENCE   6  (bases 1 to 1372)
  AUTHORS   Datta,U., Wexler,I.D., Kerr,D.S., Raz,I. and Patel,M.S.
  TITLE     Characterization of the regulatory region of the human
            testis-specific form of the pyruvate dehydrogenase alpha-subunit
            (PDHA-2) gene
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 236-243 (1999)
   PUBMED   10542321
REFERENCE   7  (bases 1 to 1372)
  AUTHORS   Liu,S., Baker,J.C., Andrews,P.C. and Roche,T.E.
  TITLE     Recombinant expression and evaluation of the lipoyl domains of the
            dihydrolipoyl acetyltransferase component of the human pyruvate
            dehydrogenase complex
  JOURNAL   Arch Biochem Biophys 316 (2), 926-940 (1995)
   PUBMED   7864652
REFERENCE   8  (bases 1 to 1372)
  AUTHORS   Fitzgerald,J., Hutchison,W.M. and Dahl,H.H.
  TITLE     Isolation and characterisation of the mouse pyruvate dehydrogenase
            E1 alpha genes
  JOURNAL   Biochim Biophys Acta 1131 (1), 83-90 (1992)
   PUBMED   1581363
REFERENCE   9  (bases 1 to 1372)
  AUTHORS   Dahl,H.H., Brown,R.M., Hutchison,W.M., Maragos,C. and Brown,G.K.
  TITLE     A testis-specific form of the human pyruvate dehydrogenase E1 alpha
            subunit is coded for by an intronless gene on chromosome 4
  JOURNAL   Genomics 8 (2), 225-232 (1990)
   PUBMED   2249846
REFERENCE   10 (bases 1 to 1372)
  AUTHORS   Brown,R.M., Dahl,H.H. and Brown,G.K.
  TITLE     Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping
            and comparison with human homologs
  JOURNAL   Somat Cell Mol Genet 16 (5), 487-492 (1990)
   PUBMED   2122529
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC030697.2.
            
            On May 17, 2019 this sequence version replaced NM_005390.4.
            
            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 is intronless :: BC094760.1, SRR5189667.171651.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000295266.6/
                                                  ENSP00000295266.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1372              BC030697.2         2-1373
FEATURES             Location/Qualifiers
     source          1..1372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.3"
     gene            1..1372
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /note="pyruvate dehydrogenase E1 subunit alpha 2"
                     /db_xref="GeneID:5161"
                     /db_xref="HGNC:HGNC:8807"
                     /db_xref="MIM:179061"
     exon            1..1372
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1225
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /EC_number="1.2.4.1"
                     /note="pyruvate dehydrogenase E1 component subunit alpha,
                     testis-specific form, mitochondrial; PDHE1-A type II;
                     pyruvate dehydrogenase, E1-alpha polypeptide, testis
                     specific; pyruvate dehydrogenase (lipoamide) alpha 2;
                     pyruvate dehydrogenase alpha 2; pyruvate dehydrogenase E1
                     alpha 2 subunit"
                     /codon_start=1
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, testis-specific form, mitochondrial precursor"
                     /protein_id="NP_005381.1"
                     /db_xref="CCDS:CCDS3644.1"
                     /db_xref="GeneID:5161"
                     /db_xref="HGNC:HGNC:8807"
                     /db_xref="MIM:179061"
                     /translation="MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLL
                     EEGPPVTTVLTRAEGLKYYRMMLTVRRMELKADQLYKQKFIRGFCHLCDGQEACCVGL
                     EAGINPSDHVITSYRAHGVCYTRGLSVRSILAELTGRRGGCAKGKGGSMHMYTKNFYG
                     GNGIVGAQGPLGAGIALACKYKGNDEICLTLYGDGAANQGQIAEAFNMAALWKLPCVF
                     ICENNLYGMGTSTERAAASPDYYKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKG
                     PILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKRDPIIILQDRMVNSKLATVEELK
                     EIGAEVRKEIDDAAQFATTDPEPHLEELGHHIYSSDSSFEVRGANPWIKFKSVS"
     regulatory      1313..1318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /note="hexamer: AATAAA"
     regulatory      1327..1332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /note="hexamer: AACAAA"
     polyA_site      1333
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
                     /note="major polyA site"
     polyA_site      1355
                     /gene="PDHA2"
                     /gene_synonym="PDHAL; SPGF70"
ORIGIN      
        1 aggccttccg gcggtcgtta cgggacgccg ctgccatcta cagcactccg tgaagaatat
       61 gctggccgcc ttcatctccc gcgtgttgag gcgagttgcc cagaaatcag ctcgcagagt
      121 gctggtggca tcccgtaact cctcaaatga cgctacattt gaaattaaga aatgtgatct
      181 ttatctgttg gaagagggtc cccctgtcac tacagtgctc actagggcgg aggggcttaa
      241 atactacagg atgatgctga ctgttcgccg catggaattg aaggcagatc agctgtacaa
      301 acagaaattc attcgcggtt tctgtcacct gtgcgatggt caggaagctt gttgcgtggg
      361 ccttgaggcc ggcataaacc cctcggatca cgtcattaca tcctataggg ctcatggtgt
      421 gtgctatact cggggacttt ctgtccgatc cattctcgca gagctgacgg gaagaagagg
      481 aggttgtgct aaaggaaaag gaggatcgat gcatatgtat accaagaact tctatggggg
      541 caatggcatc gtcggtgcac agggccccct gggcgctggc attgctctgg cctgtaaata
      601 taaaggaaac gatgagatct gtttgacttt atatggggat ggcgctgcga atcaggggca
      661 gatagccgaa gctttcaata tggcagcttt atggaaatta ccttgtgttt tcatctgtga
      721 gaataaccta tatggaatgg gaacatctac tgagagagca gcagccagcc ctgattacta
      781 caagaggggc aattttatcc ctgggctaaa ggtcgatgga atggatgttc tgtgtgttcg
      841 tgaggcaaca aaatttgcag ctaactactg tagatctgga aaggggccca tactgatgga
      901 gctgcaaacc taccgttatc atggacacag tatgagtgat cctggagtca gttatcgtac
      961 acgagaagaa attcaggaag taagaagtaa gagggatcct ataataattc tccaagatag
     1021 aatggtaaac agcaagctcg ccactgtgga agaattaaag gaaattgggg ctgaggtgag
     1081 gaaagaaatt gatgatgctg cccagtttgc taccactgat cctgagccac atttggaaga
     1141 attaggccat cacatctaca gcagtgattc atcttttgaa gttcgtggtg caaatccatg
     1201 gatcaagttt aagtccgtca gttaaaggga ggctacgtgt gaatttatca tcagtctctc
     1261 aatggaatgt tcatggtcaa atttaagaaa ctgtgttctc aactcaagga ggaataaaac
     1321 tcataaaaca aaagccttgt aagcatttat taaaagagat tattaaaaga ga
//
