LOCUS       NM_005271               3300 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens glutamate dehydrogenase 1 (GLUD1), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005271
VERSION     NM_005271.5
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 3300)
  AUTHORS   Qin,J., Zhao,Y., Li,S., Liu,Q., Huang,S. and Yu,X.
  TITLE     GDH1 exacerbates renal fibrosis by inhibiting the transcriptional
            activity of peroxisome proliferator-activated receptor gamma
  JOURNAL   FEBS J 291 (20), 4581-4601 (2024)
   PUBMED   39136063
  REMARK    GeneRIF: GDH1 exacerbates renal fibrosis by inhibiting the
            transcriptional activity of peroxisome proliferator-activated
            receptor gamma.
REFERENCE   2  (bases 1 to 3300)
  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   3  (bases 1 to 3300)
  AUTHORS   Tzimagiorgis,G., Leversha,M.A., Chroniary,K., Goulielmos,G.,
            Sargent,C.A., Ferguson-Smith,M. and Moschonas,N.K.
  TITLE     Structure and expression analysis of a member of the human
            glutamate dehydrogenase (GLUD) gene family mapped to chromosome
            10p11.2
  JOURNAL   Hum Genet 91 (5), 433-438 (1993)
   PUBMED   8314555
REFERENCE   4  (bases 1 to 3300)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   5  (bases 1 to 3300)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   6  (bases 1 to 3300)
  AUTHORS   Nakatani,Y., Schneider,M., Banner,C. and Freese,E.
  TITLE     Complete nucleotide sequence of human glutamate dehydrogenase cDNA
  JOURNAL   Nucleic Acids Res 16 (13), 6237 (1988)
   PUBMED   3399399
REFERENCE   7  (bases 1 to 3300)
  AUTHORS   Amuro,N., Yamaura,M., Goto,Y. and Okazaki,T.
  TITLE     Molecular cloning and nucleotide sequence of the cDNA for human
            liver glutamate dehydrogenase precursor
  JOURNAL   Biochem Biophys Res Commun 152 (3), 1395-1400 (1988)
   PUBMED   3377777
REFERENCE   8  (bases 1 to 3300)
  AUTHORS   Mavrothalassitis,G., Tzimagiorgis,G., Mitsialis,A., Zannis,V.,
            Plaitakis,A., Papamatheakis,J. and Moschonas,N.
  TITLE     Isolation and characterization of cDNA clones encoding human liver
            glutamate dehydrogenase: evidence for a small gene family
  JOURNAL   Proc Natl Acad Sci U S A 85 (10), 3494-3498 (1988)
   PUBMED   3368458
REFERENCE   9  (bases 1 to 3300)
  AUTHORS   Banner,C., Silverman,S., Thomas,J.W., Lampel,K.A., Vitkovic,L.,
            Huie,D. and Wenthold,R.J.
  TITLE     Isolation of a human brain cDNA for glutamate dehydrogenase
  JOURNAL   J Neurochem 49 (1), 246-252 (1987)
   PUBMED   3585334
REFERENCE   10 (bases 1 to 3300)
  AUTHORS   Julliard,J.H. and Smith,E.L.
  TITLE     Partial amino acid sequence of the glutamate dehydrogenase of human
            liver and a revision of the sequence of the bovine enzyme
  JOURNAL   J Biol Chem 254 (9), 3427-3438 (1979)
   PUBMED   429360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M20867.1, BC112946.1 and
            AF086070.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005271.4.
            
            Summary: This gene encodes glutamate dehydrogenase, which is a
            mitochondrial matrix enzyme that catalyzes the oxidative
            deamination of glutamate to alpha-ketoglutarate and ammonia. This
            enzyme has an important role in regulating amino acid-induced
            insulin secretion. It is allosterically activated by ADP and
            inhibited by GTP and ATP. Activating mutations in this gene are a
            common cause of congenital hyperinsulinism. Alternative splicing of
            this gene results in multiple transcript variants. The related
            glutamate dehydrogenase 2 gene on the human X-chromosome originated
            from this gene via retrotransposition and encodes a soluble form of
            glutamate dehydrogenase. Related pseudogenes have been identified
            on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR14038197.1809895.1, GQ891382.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000277865.5/
                                                  ENSP00000277865.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2551              M20867.1           24-2574
            2552-3016           BC112946.1         2539-3003
            3017-3300           AF086070.2         96-379
FEATURES             Location/Qualifiers
     source          1..3300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     gene            1..3300
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /note="glutamate dehydrogenase 1"
                     /db_xref="GeneID:2746"
                     /db_xref="HGNC:HGNC:4335"
                     /db_xref="MIM:138130"
     exon            1..519
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1751
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /EC_number="1.4.1.3"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; glutamate dehydrogenase 1, mitochondrial;
                     glutamate dehydrogenase (NAD(P)+); epididymis tissue sperm
                     binding protein Li 18mP; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="glutamate dehydrogenase 1, mitochondrial isoform
                     a precursor"
                     /protein_id="NP_005262.1"
                     /db_xref="CCDS:CCDS7382.1"
                     /db_xref="GeneID:2746"
                     /db_xref="HGNC:HGNC:4335"
                     /db_xref="MIM:138130"
                     /translation="MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPG
                     LALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRV
                     RGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDE
                     VKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPG
                     IDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGV
                     FHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESD
                     GSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSN
                     APRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVS
                     YGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHS
                     GLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT"
     exon            520..600
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            601..656
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            657..720
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            721..815
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            816..995
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1133
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1271
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1352
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1476
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1568
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..1631
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..3300
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2993..2998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /note="hexamer: ATTAAA"
     polyA_site      3016
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /note="major polyA site"
     regulatory      3281..3286
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
                     /note="hexamer: ATTAAA"
     polyA_site      3300
                     /gene="GLUD1"
                     /gene_synonym="GDH; GDH1; GLUD; hGDH1"
ORIGIN      
        1 ctccctagtc gcggggagtc tgagaaagcg cgcctgtttc gcgaccatca cgcacctccc
       61 ctccgcttgt ggccatgtac cgctacctgg gcgaagcgct gttgctgtcc cgggccgggc
      121 ccgctgccct gggctcggcg tccgccgact cggccgcgtt gctgggctgg gcccggggac
      181 agcccgccgc cgccccgcag ccggggctgg cattggccgc ccggcgccac tacagcgagg
      241 cggtggccga ccgcgaggac gaccccaact tcttcaagat ggtggagggc ttcttcgatc
      301 gcggcgccag catcgtggag gacaagctgg tggaggacct gaggacccgg gagagcgagg
      361 agcagaagcg gaaccgggtg cgcggcatcc tgcggatcat caagccctgc aaccatgtgc
      421 tgagtctctc cttccccatc cggcgcgacg acggctcctg ggaggtcatc gaaggctacc
      481 gggcccagca cagccagcac cgcacgccct gcaagggagg tatccgttac agcactgatg
      541 tgagtgtaga tgaagtaaaa gctttggctt ctctgatgac atacaagtgt gcagtggttg
      601 atgtgccgtt tgggggtgct aaagctggtg ttaagatcaa tcccaagaac tatactgata
      661 atgaattgga aaagatcaca aggaggttca ccatggagct agcaaaaaag ggctttattg
      721 gtcctggcat tgatgtgcct gctccagaca tgagcacagg tgagcgggag atgtcctgga
      781 tcgctgatac ctatgccagc accatagggc actatgatat taatgcacac gcctgtgtta
      841 ctggtaaacc catcagccaa gggggaatcc atggacgcat ctctgctact ggccgtggtg
      901 tcttccatgg gattgaaaat ttcatcaatg aagcttctta catgagcatt ttaggaatga
      961 caccagggtt tggagataaa acatttgttg ttcagggatt tggtaatgtg ggcctacact
     1021 ctatgagata tttacatcgt tttggtgcta aatgtattgc tgttggtgag tctgatggga
     1081 gtatatggaa tccagatggt attgacccaa aggaactgga agacttcaaa ttgcaacatg
     1141 ggtccattct gggcttcccc aaggcaaagc cctatgaagg aagcatcttg gaggccgact
     1201 gtgacatact gatcccagct gccagtgaga agcagttgac caaatccaac gcacccagag
     1261 tcaaagccaa gatcattgct gaaggtgcca atgggccaac aactccagaa gctgacaaga
     1321 tcttcctgga gagaaacatt atggttattc cagatctcta cttgaatgct ggaggagtga
     1381 cagtatctta ctttgagtgg ctgaagaatc taaatcatgt cagctatggc cgtttgacct
     1441 tcaaatatga aagggattct aactaccact tgctcatgtc tgttcaagag agtttagaaa
     1501 gaaaatttgg aaagcatggt ggaactattc ccattgtacc cacggcagag ttccaagaca
     1561 ggatatcggg tgcatctgag aaagacatcg tgcactctgg cttggcatac acaatggagc
     1621 gttctgccag gcaaattatg cgcacagcca tgaagtataa cctgggattg gacctgagaa
     1681 cagctgccta tgttaatgcc attgagaaag tcttcaaagt gtacaatgaa gctggtgtga
     1741 ccttcacata gatggatcat ggctgacttc ctcactatcc tcttcacatg taacttctgc
     1801 agacctatca caagtttaca tgtaaccaca gaaatccctt tctctcctga ctcattaata
     1861 atggatacca ttctcaacaa gtcaatccaa gtcagcccgt taaggagaaa gaaattaagg
     1921 ttagcggatc atgtacaagc tgagtgtgaa agtagaaatc acctacacca gagagccatt
     1981 ttggtatttt gcctttaaat aaaaagcctc ctttatctgg ctgtgcagcc ttgctctgtg
     2041 gcttttccca acacaatcag tgctagtgct ggggaggaac agtcaagagc agtcagttgc
     2101 ttgcttattt tttctggatg agtctgggac acactgtaac tttaacacat ttaagaagta
     2161 ggtgtgtggc cttttcagaa ggtggcatgg tcctcaagtg agttcttagt attttatatc
     2221 agcaaaataa ttcaattttg caggttgcaa acaaatataa aacctgtttc tgtttatgaa
     2281 tattattctt ttagaataga ataagtacat gctgctgtaa taaaattgcc tttaatcact
     2341 taacaagcct aaccttgact caaacagtga atgcctatag aaataataaa tgaaaaaaac
     2401 tagtattttt atatcataaa acaatgtcat ttatagctta tcattcatgt attgtccagc
     2461 agacattaaa agccctgtgg ataattaagt tatcttcata cctgcaaaat ggtggaggct
     2521 attttcatta aaactgtcag aatttgctta ctataattat gatacagtcc aaagaatgca
     2581 gtcacttttt atcatgttaa ctaattgttc tcttttgaag atctatggtt gactaattaa
     2641 acaataattc aagtagagtg tcccagaaaa aaaccacttg ggctccctgt ttggagtctg
     2701 gctggctctg agcattgcca atggccccta ctcacctgac tttgtatcct ctccttttag
     2761 aggctttgca ttctgcaccc agcttcacta acagtgggct gaaaacatcc ttgggttgag
     2821 tgtttcattt gggagttatt tggccagggc cttttgaaca gtagtgtccc catgaagtgc
     2881 tagataatat atgtgtaaga gtcagctttt tttttttttt taactctaac acccttcaga
     2941 aatttctaac tactttgtaa ctgcatggct taacctggtg ataaaagcag ttattaaaag
     3001 tctacgtttt ccaaaactta cgtttctttt ctgtgttttt acatgtggta gtttctcttt
     3061 tcataagtta taatactgca attggatttc tgaaatgttt atagcgacca cctgtataac
     3121 atttccttcc actttattgt gagctgccca gattttattc ttgaattgtt tttttttttt
     3181 ttgttcggtg ctttacacgt tcagagaaac ttcccgagta acgaactata gaaatgatcc
     3241 ctgaaagcat agtctttatt ctcgaattat tttgtatttt attaaataat atgaacagct
//
