LOCUS       NM_033281               1315 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens alpha-ketoglutarate dehydrogenase subunit 4 (KGD4),
            mRNA.
ACCESSION   NM_033281
VERSION     NM_033281.6
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 1315)
  AUTHORS   Hevler,J.F., Albanese,P., Cabrera-Orefice,A., Potter,A.,
            Jankevics,A., Misic,J., Scheltema,R.A., Brandt,U., Arnold,S. and
            Heck,A.J.R.
  TITLE     MRPS36 provides a structural link in the eukaryotic 2-oxoglutarate
            dehydrogenase complex
  JOURNAL   Open Biol 13 (3), 220363 (2023)
   PUBMED   36854377
REFERENCE   2  (bases 1 to 1315)
  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 1315)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1315)
  AUTHORS   Zhang,Z. and Gerstein,M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   5  (bases 1 to 1315)
  AUTHORS   Cavdar Koc,E., Burkhart,W., Blackburn,K., Moseley,A. and
            Spremulli,L.L.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC015966.1 and AC145132.2.
            
            On Nov 22, 2018 this sequence version replaced NM_033281.5.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. The mitochondrial ribosome (mitoribosome) consists
            of a small 28S subunit and a large 39S subunit. They have an
            estimated 75% protein to rRNA composition compared to prokaryotic
            ribosomes, where this ratio is reversed. Another difference between
            mammalian mitoribosomes and prokaryotic ribosomes is that the
            latter contain a 5S rRNA. Among different species, the proteins
            comprising the mitoribosome differ greatly in sequence, and
            sometimes in biochemical properties, which prevents easy
            recognition by sequence homology. This gene encodes a 28S subunit
            protein. Pseudogenes corresponding to this gene are found on
            chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.195098.1,
                                           SRR1660807.297318.1 [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                 :: ENST00000256441.5/
                                                  ENSP00000256441.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-621               BC015966.1         5-625
            622-1315            AC145132.2         147865-148558       c
FEATURES             Location/Qualifiers
     source          1..1315
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1315
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="alpha-ketoglutarate dehydrogenase subunit 4"
                     /db_xref="GeneID:92259"
                     /db_xref="HGNC:HGNC:16631"
                     /db_xref="MIM:611996"
     exon            1..112
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..382
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="28S ribosomal protein S36, mitochondrial; S36mt;
                     mitochondrial ribosomal protein S36"
                     /codon_start=1
                     /product="alpha-ketoglutarate dehydrogenase component 4"
                     /protein_id="NP_150597.1"
                     /db_xref="CCDS:CCDS34174.1"
                     /db_xref="GeneID:92259"
                     /db_xref="HGNC:HGNC:16631"
                     /db_xref="MIM:611996"
                     /translation="MMGSKMASASRVVQVVKPHTPLIRFPDRRDNPKPNVSEALRSAG
                     LPSHSSVISQHSKGSKSPDLLMYQGPPDTAEIIKTLPQKYRRKLVSQEEMEFIQRGGP
                     E"
     exon            113..176
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /inference="alignment:Splign:2.1.0"
     exon            177..364
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /inference="alignment:Splign:2.1.0"
     exon            365..1315
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      428..433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="hexamer: AATAAA"
     polyA_site      448
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
     regulatory      479..484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="hexamer: AATAAA"
     polyA_site      498
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="major polyA site"
     regulatory      599..604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="hexamer: ATTAAA"
     polyA_site      624
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
     regulatory      1291..1296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
                     /note="hexamer: AATAAA"
     polyA_site      1315
                     /gene="KGD4"
                     /gene_synonym="DC47; MRP-S36; MRPS36"
ORIGIN      
        1 acagctgccc gggactccag tgatcgccgc ggctcgctcg cgccccggaa actgcccctt
       61 ctcgggggtc atgatgggca gcaagatggc gtctgctagt agggtcgttc aggtagtcaa
      121 accacacact ccattaataa ggtttcctga cagaagagac aatcctaaac ccaatgtatc
      181 agaagctttg agatcagcag ggctaccatc tcactcttct gtaatttcac aacattctaa
      241 aggaagtaaa tcaccagatt tgctgatgta tcagggtcca ccagacactg cagaaataat
      301 aaaaacatta cctcagaaat acagaaggaa acttgtgtct caagaagaaa tggaatttat
      361 ccaacgtgga ggtcctgaat aaccatggtg gctgctgttt gtcatcagac aatagaattg
      421 tctttacaat aaaggacttc caaaatgaca gatgagaaac tgtatattaa acacctttaa
      481 taaatattat gaaaaaaatg aaatatagaa aatttagatg gacacttgta tttcctaatt
      541 tatgtatctt ggtcagcttc tccacaagct tacctaattg tttatatact ttatacttat
      601 taaagtatac atttttaaat gttagcctat taatttactc ttgattatca aacattacca
      661 gtgttgaact attaaaagca cacaatgtgt agtaaactat cataggattc ccataatttc
      721 actttacttt ctgtttaggc atggaaaaat ttatcagtca gaattgctgt tttagggaca
      781 tgattttcct gaaattgggt gaggatcagt gaaataatta ctctattact tgttcttaat
      841 tctctgttct ctaatgtttt ttcattcaca agtttactgg agtataactg gcttagtaag
      901 tatatcctac tctgaatgat aaaaatatag tcaagctaaa ataggtgact atactattaa
      961 gatagagatc atacaaaaga ttccaaagaa agtcaaaaag tgtaaaatgg aaaataagag
     1021 atcaaaatga atatagcata ggaataaaga tttcactaga aattgcaatt tattatgttt
     1081 tggaggttgt aaggaagtct tgttttttgg tttattttac tgttttgtga tcttgtatgc
     1141 aaatcctgat aaccattaac cttctcaaac ttaatgtctg agagcctcat aaaatcaaca
     1201 tatttactta ttaagcagtt tatgaaactt taatggggcc cctcctgtgc caagggtacg
     1261 tatattgtga agtaaagcct cacaaagcta aataaattct cttccatacc tttaa
//
