LOCUS       NM_012084               2485 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens glutamate dehydrogenase 2 (GLUD2), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_012084
VERSION     NM_012084.4
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 2485)
  AUTHORS   Itoh,M., Piot,L., Mony,L., Paoletti,P. and Yuzaki,M.
  TITLE     Lack of evidence for direct ligand-gated ion channel activity of
            GluD receptors
  JOURNAL   Proc Natl Acad Sci U S A 121 (31), e2406655121 (2024)
   PUBMED   39052831
  REMARK    GeneRIF: Lack of evidence for direct ligand-gated ion channel
            activity of GluD receptors.
REFERENCE   2  (bases 1 to 2485)
  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 2485)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2485)
  AUTHORS   Dimovasili,C., Fadouloglou,V.E., Kefala,A., Providaki,M.,
            Kotsifaki,D., Kanavouras,K., Sarrou,I., Plaitakis,A., Zaganas,I.
            and Kokkinidis,M.
  TITLE     Crystal structure of glutamate dehydrogenase 2, a positively
            selected novel human enzyme involved in brain biology and cancer
            pathophysiology
  JOURNAL   J Neurochem 157 (3), 802-815 (2021)
   PUBMED   33421122
  REMARK    GeneRIF: Crystal structure of glutamate dehydrogenase 2, a
            positively selected novel human enzyme involved in brain biology
            and cancer pathophysiology.
REFERENCE   5  (bases 1 to 2485)
  AUTHORS   Zhang,W., Gong,J., Ding,L., Zhang,Z., Pan,X., Chen,X., Guo,W.,
            Zhang,X., Yang,X., Peng,G., Lin,Y., Gao,F., Li,Y., Zhu,X., Xuan,A.,
            Wang,S., Sun,X., Zhang,Y. and Xu,P.
  TITLE     Functional validation of a human GLUD2 variant in a murine model of
            Parkinson's disease
  JOURNAL   Cell Death Dis 11 (10), 897 (2020)
   PUBMED   33093440
  REMARK    GeneRIF: Functional validation of a human GLUD2 variant in a murine
            model of Parkinson's disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2485)
  AUTHORS   Shashidharan,P., Clarke,D.D., Ahmed,N., Moschonas,N. and
            Plaitakis,A.
  TITLE     Nerve tissue-specific human glutamate dehydrogenase that is
            thermolabile and highly regulated by ADP
  JOURNAL   J Neurochem 68 (5), 1804-1811 (1997)
   PUBMED   9109504
REFERENCE   7  (bases 1 to 2485)
  AUTHORS   Shashidharan,P., Michaelidis,T.M., Robakis,N.K., Kresovali,A.,
            Papamatheakis,J. and Plaitakis,A.
  TITLE     Novel human glutamate dehydrogenase expressed in neural and
            testicular tissues and encoded by an X-linked intronless gene
  JOURNAL   J Biol Chem 269 (24), 16971-16976 (1994)
   PUBMED   8207021
REFERENCE   8  (bases 1 to 2485)
  AUTHORS   Anagnou,N.P., Seuanez,H., Modi,W., O'Brien,S.J., Papamatheakis,J.
            and Moschonas,N.K.
  TITLE     Chromosomal mapping of two members of the human glutamate
            dehydrogenase (GLUD) gene family to chromosomes 10q22.3-q23 and
            Xq22-q23
  JOURNAL   Hum Hered 43 (6), 351-356 (1993)
   PUBMED   8288265
REFERENCE   9  (bases 1 to 2485)
  AUTHORS   Michaelidis,T.M., Tzimagiorgis,G., Moschonas,N.K. and
            Papamatheakis,J.
  TITLE     The human glutamate dehydrogenase gene family: gene organization
            and structural characterization
  JOURNAL   Genomics 16 (1), 150-160 (1993)
   PUBMED   8486350
REFERENCE   10 (bases 1 to 2485)
  AUTHORS   Abidi,F.E., Wada,M., Little,R.D. and Schlessinger,D.
  TITLE     Yeast artificial chromosomes containing human Xq24-Xq28 DNA:
            library construction and representation of probe sequences
  JOURNAL   Genomics 7 (3), 363-376 (1990)
   PUBMED   2365355
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC050732.2 and AC006144.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_012084.3.
            
            Summary: The protein encoded by this gene is localized to the
            mitochondrion and acts as a homohexamer to recycle glutamate during
            neurotransmission. The encoded enzyme catalyzes the reversible
            oxidative deamination of glutamate to alpha-ketoglutarate. This
            gene is intronless.[provided by RefSeq, Jan 2010].
            
            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 :: HM005554.1, BC050732.2 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000328078.3/
                                                  ENSP00000327589.1
            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
            1-2333              BC050732.2         3-2335
            2334-2485           AC006144.1         47402-47553
FEATURES             Location/Qualifiers
     source          1..2485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..2485
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /note="glutamate dehydrogenase 2"
                     /db_xref="GeneID:2747"
                     /db_xref="HGNC:HGNC:4336"
                     /db_xref="MIM:300144"
     exon            1..2485
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1752
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /EC_number="1.4.1.3"
                     /note="glutamate dehydrogenase pseudogene 1; glutamate
                     dehydrogenase 2, mitochondrial; GDH 2; testicular
                     secretory protein Li 14"
                     /codon_start=1
                     /product="glutamate dehydrogenase 2, mitochondrial
                     precursor"
                     /protein_id="NP_036216.2"
                     /db_xref="CCDS:CCDS14603.1"
                     /db_xref="GeneID:2747"
                     /db_xref="HGNC:HGNC:4336"
                     /db_xref="MIM:300144"
                     /translation="MYRYLAKALLPSRAGPAALGSAANHSAALLGRGRGQPAAASQPG
                     LALAARRHYSELVADREDDPNFFKMVEGFFDRGASIVEDKLVKDLRTQESEEQKRNRV
                     RGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDE
                     VKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTENELEKITRRFTMELAKKGFIGPG
                     VDVPAPDMNTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGV
                     FHGIENFINEASYMSILGMTPGFRDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESD
                     GSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEVDCDILIPAATEKQLTKSN
                     APRVKAKIIAEGANGPTTPEADKIFLERNILVIPDLYLNAGGVTVSYFEWLKNLNHVS
                     YGRLTFKYERDSNYHLLLSVQESLERKFGKHGGTIPIVPTAEFQDSISGASEKDIVHS
                     ALAYTMERSARQIMHTAMKYNLGLDLRTAAYVNAIEKVFKVYSEAGVTFT"
     regulatory      2309..2314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /note="hexamer: AATAAA"
     polyA_site      2342
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
     regulatory      2371..2376
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /note="hexamer: AATAAA"
     polyA_site      2391
                     /gene="GLUD2"
                     /gene_synonym="GDH2; GLUDP1"
                     /note="major polyA site"
ORIGIN      
        1 ccttcctagt cgcggggagt ctgagaaagc gcacctgttc cgcgaccgtc acgcacccct
       61 cctccgcctg ccgcgatgta ccgctacctg gccaaagcgc tgctgccgtc ccgggccggg
      121 cccgctgccc tgggctccgc ggccaaccac tcggccgcgt tgctgggccg gggccgcgga
      181 cagcccgccg ccgcctcgca gccggggctc gcattggccg cccggcgcca ctacagcgag
      241 ttggtggccg accgcgagga cgaccccaac ttcttcaaga tggtggaggg cttcttcgat
      301 cgcggcgcca gcatcgtgga ggacaagttg gtgaaggacc tgaggaccca ggaaagcgag
      361 gagcagaagc ggaaccgggt gcgcggcatc ctgcggatca tcaagccctg caaccatgtg
      421 ctgagtctct ccttccccat ccggcgcgac gacggctcct gggaggtcat cgaaggctac
      481 cgggcccagc acagccagca ccgcacgccc tgcaagggag gtatccgtta cagcactgat
      541 gtgagtgtag atgaagtaaa agctttggct tctctgatga catacaagtg tgcagtggtt
      601 gatgtgccgt ttgggggtgc taaagctggt gttaagatca atcccaagaa ctataccgaa
      661 aatgaattgg aaaagatcac aaggaggttc accatggagc tagcaaagaa gggctttatt
      721 ggtcctggcg ttgatgtgcc tgctccagac atgaacacag gtgagcggga gatgtcctgg
      781 attgctgata cctatgccag caccataggg cactatgata ttaatgcaca cgcctgtgtt
      841 actggtaaac ccatcagcca agggggaatc catggacgca tctctgctac tggccgtggt
      901 gtcttccatg ggattgaaaa cttcatcaat gaagcttctt acatgagcat tttaggaatg
      961 acaccagggt ttagagataa aacatttgtt gttcagggat ttggtaatgt gggcctacac
     1021 tctatgagat atttacatcg ttttggtgct aaatgtattg ctgttggtga gtctgatggg
     1081 agtatatgga atccagatgg tattgaccca aaggaactgg aagacttcaa attgcaacat
     1141 gggtccattc tgggcttccc caaggcaaag ccctatgaag gaagcatctt ggaggtcgac
     1201 tgtgacatac tgatcccagc tgccactgag aagcagttga ccaaatccaa cgcacccaga
     1261 gtcaaagcca agatcattgc tgaaggtgcc aatgggccaa caactccaga agctgataag
     1321 atcttcctgg agagaaacat tttggttatt ccagatctct acttgaatgc tggaggagtg
     1381 acagtatctt actttgagtg gctgaagaat ctaaatcatg tcagctatgg ccgtttgacc
     1441 ttcaaatatg aaagggattc taactaccac ttgctcctgt ctgttcaaga gagtttagaa
     1501 agaaaatttg gaaagcatgg tggaactatt cccattgtac ccacggcaga gttccaagac
     1561 agtatatcgg gtgcatctga gaaagacatt gtgcactctg ccttggcata cacaatggag
     1621 cgttctgcca ggcaaattat gcacacagcc atgaagtata acctgggatt ggacctgaga
     1681 acagctgcct atgtcaatgc cattgaaaaa gtcttcaaag tgtacagtga agctggtgtg
     1741 accttcacat agatggatca tggctgactt cctcactaac ctcttcacgt gtaacttctg
     1801 cagacctacc acaagtttac atgtaaccac agaaatccct ttctctcctg actcattact
     1861 aatggatacc attctcaaca agtcaatcca aatcagcccg ttaaggagaa agaaattaat
     1921 atacaagctg agtgtgaaag tagaaatcac ctacaccaga gagctatttt ggtattttgc
     1981 ctttaaataa aaagcctcct ccatatggct gtgcagcctt gctctgtggc ttttcccagc
     2041 acaatcagtg ctagtgctgg ggaagggaca gtcaagagca gtcagttgct tacttatttt
     2101 gctctggatg agtctgggac acgctgtaac tttaacacat ttaagaagaa ggtgtgtggc
     2161 cttttcagaa ggtggcatgg tcctcaagtg agttcttagt attttatatc agcaaaataa
     2221 ctcaattttg cagattgcaa acaaatataa aagctgtttc tgtttatgaa ttttattctt
     2281 ttagaataga ataagtacat gctgctgtaa taaaattgcc tttaatcact taacaagcct
     2341 aaccttgact cagtgaatgc ctataaaaat aataaatgaa aaaaaacagt atttttatat
     2401 cataaaagtt tcatttgtag cttatcattc acgtattgtt gtccagcaaa cattaaaagc
     2461 cctgtggata attacgttat cttca
//
