LOCUS       NM_000159               1852 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000159
VERSION     NM_000159.4
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 1852)
  AUTHORS   Lao,Y., Cui,X., Xu,Z., Yan,H., Zhang,Z., Zhang,Z., Geng,L., Li,B.,
            Lu,Y., Guan,Q., Pu,X., Zhao,S., Zhu,J., Qin,X. and Sun,B.
  TITLE     Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes
            an anti-tumor microenvironment in hepatocellular carcinoma
  JOURNAL   J Hepatol 81 (5), 847-861 (2024)
   PUBMED   38825017
  REMARK    GeneRIF: Glutaryl-CoA dehydrogenase suppresses tumor progression
            and shapes an anti-tumor microenvironment in hepatocellular
            carcinoma.
REFERENCE   2  (bases 1 to 1852)
  AUTHORS   Zhou,J., Li,G., Deng,L., Zhao,P., Zeng,Y., Qiu,X., Luo,J. and Xu,L.
  TITLE     Biochemical and molecular features of chinese patients with
            glutaric acidemia type 1 from Fujian Province, southeastern China
  JOURNAL   Orphanet J Rare Dis 18 (1), 215 (2023)
   PUBMED   37496092
  REMARK    GeneRIF: Biochemical and molecular features of chinese patients
            with glutaric acidemia type 1 from Fujian Province, southeastern
            China.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1852)
  AUTHORS   Guo,Z., Gong,A., Liu,S. and Liang,H.
  TITLE     Two novel compound heterozygous variants of the GCDH gene in two
            Chinese families with glutaric acidaemia type I identified by
            high-throughput sequencing and a literature review
  JOURNAL   Mol Genet Genomics 298 (3), 603-614 (2023)
   PUBMED   36906724
  REMARK    GeneRIF: Two novel compound heterozygous variants of the GCDH gene
            in two Chinese families with glutaric acidaemia type I identified
            by high-throughput sequencing and a literature review.
            Review article
REFERENCE   4  (bases 1 to 1852)
  AUTHORS   Schwartz,M., Christensen,E., Superti-Furga,A. and Brandt,N.J.
  TITLE     The human glutaryl-CoA dehydrogenase gene: report of intronic
            sequences and of 13 novel mutations causing glutaric aciduria type
            I
  JOURNAL   Hum Genet 102 (4), 452-458 (1998)
   PUBMED   9600243
REFERENCE   5  (bases 1 to 1852)
  AUTHORS   Biery,B.J., Stein,D.E., Morton,D.H. and Goodman,S.I.
  TITLE     Gene structure and mutations of glutaryl-coenzyme A dehydrogenase:
            impaired association of enzyme subunits that is due to an A421V
            substitution causes glutaric acidemia type I in the Amish
  JOURNAL   Am J Hum Genet 59 (5), 1006-1011 (1996)
   PUBMED   8900227
REFERENCE   6  (bases 1 to 1852)
  AUTHORS   Goodman,S.I., Kratz,L.E., DiGiulio,K.A., Biery,B.J., Goodman,K.E.,
            Isaya,G. and Frerman,F.E.
  TITLE     Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild
            type and mutant enzymes in Escherichia coli
  JOURNAL   Hum Mol Genet 4 (9), 1493-1498 (1995)
   PUBMED   8541831
REFERENCE   7  (bases 1 to 1852)
  AUTHORS   Larson,A. and Goodman,S.
  TITLE     Glutaric Acidemia Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31536184
REFERENCE   8  (bases 1 to 1852)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   9  (bases 1 to 1852)
  AUTHORS   Goodman,S.I., Kratz,L.E. and Frerman,F.E.
  TITLE     Pork and human cDNAs encoding glutaryl-CoA dehydrogenase
  JOURNAL   Prog Clin Biol Res 375, 169-173 (1992)
   PUBMED   1438360
REFERENCE   10 (bases 1 to 1852)
  AUTHORS   Lenich,A.C. and Goodman,S.I.
  TITLE     The purification and characterization of glutaryl-coenzyme A
            dehydrogenase from porcine and human liver
  JOURNAL   J Biol Chem 261 (9), 4090-4096 (1986)
   PUBMED   3081514
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290407.1, U69141.1 and
            BM855466.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000159.3.
            
            Summary: The protein encoded by this gene belongs to the acyl-CoA
            dehydrogenase family. It catalyzes the oxidative decarboxylation of
            glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway
            of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses
            electron transfer flavoprotein as its electron acceptor. The enzyme
            exists in the mitochondrial matrix as a homotetramer of 45-kD
            subunits. Mutations in this gene result in the metabolic disorder
            glutaric aciduria type 1, which is also known as glutaric acidemia
            type I. Alternative splicing of this gene results in multiple
            transcript variants. A related pseudogene has been identified on
            chromosome 12. [provided by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform (a,
            also known as the long isoform).
            
            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 :: KR674114.1, KT996148.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000222214.10/
                                                  ENSP00000222214.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1558              AK290407.1         1-1558
            1559-1822           U69141.1           1518-1781
            1823-1852           BM855466.1         465-494
FEATURES             Location/Qualifiers
     source          1..1852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1852
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="glutaryl-CoA dehydrogenase"
                     /db_xref="GeneID:2639"
                     /db_xref="HGNC:HGNC:4189"
                     /db_xref="MIM:608801"
     exon            1..43
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            44..168
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1394
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /EC_number="1.3.8.6"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; glutaryl-Coenzyme A dehydrogenase; glutaryl-CoA
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="glutaryl-CoA dehydrogenase, mitochondrial
                     isoform a precursor"
                     /protein_id="NP_000150.1"
                     /db_xref="CCDS:CCDS12286.1"
                     /db_xref="GeneID:2639"
                     /db_xref="HGNC:HGNC:4189"
                     /db_xref="MIM:608801"
                     /translation="MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSS
                     RPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLMPRILLANRNEVFHREIISEMGE
                     LGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ
                     RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPM
                     ADLFVVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENV
                     LPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQK
                     KLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGN
                     GISDEYHVIRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK"
     exon            169..204
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            205..348
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            349..411
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            412..582
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            583..712
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            713..929
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1033
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1159
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1320
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1852
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1802..1807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="hexamer: AATAAA"
     polyA_site      1822
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="major polyA site"
     polyA_site      1852
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
ORIGIN      
        1 agttgcactg tagcctcggc agtgaaccgg gaggtactac caggtcgccg tcgttgctcc
       61 gctcgctctg agagagcatg gccctgagag gcgtctccgt gcggctgctg agccgcggac
      121 ccggcctgca cgtccttcgc acgtgggtct cgtcggcggc gcagaccgag aaaggcggga
      181 gaacacagag ccaactggct aagtcctcgc gtcccgagtt tgactggcag gacccgctgg
      241 tgctggagga gcagctgacc acagatgaga tcctcatcag ggacaccttc cgcacctact
      301 gccaggagag actcatgcct cgcatcctgt tggccaatcg caacgaagtt tttcatcggg
      361 agatcatttc ggagatgggg gagttgggtg tgctgggccc caccatcaaa ggatatggct
      421 gtgctggggt ttcgtctgtg gcctatgggc tcctggcccg agagctggag cgggtggaca
      481 gtggctacag gtcggcgatg agtgtccagt cctccctcgt catgcaccct atctatgcct
      541 atggcagcga ggaacagcgg cagaagtacc tgccccagct ggccaagggg gagctcctgg
      601 gctgcttcgg gctcacagag cccaacagcg gaagtgaccc cagcagcatg gagaccagag
      661 cccactacaa ctcatccaac aagagctaca ccctcaatgg gaccaagacc tggatcacga
      721 actcgcctat ggccgatctg tttgtagtgt gggctcggtg tgaagatggc tgcattcggg
      781 gcttcctgct ggagaagggg atgcggggtc tctcggcccc caggatccag ggcaagttct
      841 cgctgcgggc ctcagccaca ggcatgatca tcatggacgg tgtggaggtg ccagaggaga
      901 atgtgctccc tggtgcatcc agcctggggg gtcccttcgg ctgcctgaac aacgcccggt
      961 acggcatcgc gtggggcgtg cttggagctt cggagttctg cttgcacaca gcccggcagt
     1021 acgccctcga caggatgcag tttggtgtcc cactggccag gaaccagctg attcagaaga
     1081 agctggcaga catgctcact gagattaccc tgggccttca cgcctgcctg cagctcggcc
     1141 gcttgaagga ccaggacaag gctgcccccg agatggtttc tctgctgaag aggaataact
     1201 gtgggaaagc cctggacatc gcccgccagg cccgagacat gctggggggg aatgggattt
     1261 ctgacgagta tcacgtgatc cggcacgcca tgaacctgga ggccgtgaac acctacgaag
     1321 gtacacatga cattcacgcc ctgatccttg ggagagctat cacgggaatc caggcgttca
     1381 cggccagcaa gtgagccgct ccatcagggg cccgaaactc tcaagcccct ttctggagag
     1441 atgcctggct ggaccgtagg agcgctgtgc tctgagctta gaaagggagg tggcggatgg
     1501 agtgggaagt gagagacact gatttttaaa tatcaaaatt tcccttctga agtcgttcag
     1561 atgtgttcct taaaaagaag atggaattct ctgtagagcg tctcaatcca cttttaacca
     1621 tggatgagag cagactccat ttaccctgaa atagcagctt ctcttgagag gagagtgaca
     1681 tggaagcaac tccgtctgct gcagctgacc ccctcacact gagttcacag tgcgccctcc
     1741 ctccctccca tctgggggta gtgccttatg ctgggtgttg gagcagagtg agggagagga
     1801 aaataaagac ctgcacatct gaccccaagg tgtcaggccg gtttactggt aa
//
