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Protein

Glutaryl-CoA dehydrogenase, mitochondrial

Gene

GCDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO2 in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.3 Publications

Catalytic activityi

Glutaryl-CoA + electron-transfer flavoprotein = crotonyl-CoA + CO2 + reduced electron-transfer flavoprotein.1 Publication

Cofactori

Activity regulationi

Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree.1 Publication

Kineticsi

Release of crotonyl-CoA product from the enzyme is the rate-determining step in its steady-state turnover.
  1. KM=4.7 µM for glutaryl-CoA (at pH 6.5)2 Publications
  2. KM=5.5 µM for glutaryl-CoA (at pH 7.5)2 Publications
  3. KM=8.1 µM for glutaryl-CoA (at pH 7.6)2 Publications
  4. KM=34.0 µM for glutaryl-CoA (at pH 8.5)2 Publications

    Pathwayi: lysine degradation

    This protein is involved in the pathway lysine degradation, which is part of Amino-acid metabolism.
    View all proteins of this organism that are known to be involved in the pathway lysine degradation and in Amino-acid metabolism.

    Pathwayi: tryptophan metabolism

    This protein is involved in the pathway tryptophan metabolism, which is part of Amino-acid metabolism.
    View all proteins of this organism that are known to be involved in the pathway tryptophan metabolism and in Amino-acid metabolism.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei186Substrate; via carbonyl oxygen1
    Binding sitei319FADBy similarity1
    Binding sitei330FADBy similarity1
    Active sitei414Proton acceptorCurated1
    Binding sitei415Substrate; via amide nitrogen1
    Binding sitei434FAD; via carbonyl oxygen1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi177 – 186FAD10
    Nucleotide bindingi212 – 214FAD3
    Nucleotide bindingi387 – 391FADBy similarity5
    Nucleotide bindingi416 – 418FAD3

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionOxidoreductase
    LigandFAD, Flavoprotein

    Enzyme and pathway databases

    BRENDAi1.3.8.6 2681
    ReactomeiR-HSA-71064 Lysine catabolism
    SABIO-RKiQ92947
    UniPathwayi
    UPA00224

    UPA00225

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutaryl-CoA dehydrogenase, mitochondrial (EC:1.3.8.6)
    Short name:
    GCD
    Gene namesi
    Name:GCDH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 19

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000105607.12
    HGNCiHGNC:4189 GCDH
    MIMi608801 gene
    neXtProtiNX_Q92947

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Glutaric aciduria 1 (GA1)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
    See also OMIM:231670
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07151064E → D in GA1. 1 Publication1
    Natural variantiVAR_00036688R → C in GA1. Corresponds to variant dbSNP:rs142967670EnsemblClinVar.1
    Natural variantiVAR_00036794R → L in GA1. 1
    Natural variantiVAR_000368101G → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs1273164833Ensembl.1
    Natural variantiVAR_000369115C → Y in GA1. Corresponds to variant dbSNP:rs776758971Ensembl.1
    Natural variantiVAR_000370122A → V in GA1. Corresponds to variant dbSNP:rs766325846EnsemblClinVar.1
    Natural variantiVAR_000371128R → G in GA1. 1
    Natural variantiVAR_000372138R → G in GA1; impaired protein stability; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs897036690Ensembl.1
    Natural variantiVAR_000373139S → L in GA1. Corresponds to variant dbSNP:rs139851890EnsemblClinVar.1
    Natural variantiVAR_000374148V → I in GA1. 1
    Natural variantiVAR_000375161R → Q in GA1. Corresponds to variant dbSNP:rs777201305EnsemblClinVar.1
    Natural variantiVAR_000376178G → R in GA1. Corresponds to variant dbSNP:rs749452002EnsemblClinVar.1
    Natural variantiVAR_000377179L → R in GA1. Corresponds to variant dbSNP:rs774526353EnsemblClinVar.1
    Natural variantiVAR_000378191M → T in GA1. Corresponds to variant dbSNP:rs149120354EnsemblClinVar.1
    Natural variantiVAR_000379195A → T in GA1. 1
    Natural variantiVAR_000380227R → P in GA1. Corresponds to variant dbSNP:rs121434373EnsemblClinVar.1
    Natural variantiVAR_000381236F → L in GA1. Corresponds to variant dbSNP:rs747920711Ensembl.1
    Natural variantiVAR_000382257R → Q in GA1. Corresponds to variant dbSNP:rs751583656EnsemblClinVar.1
    Natural variantiVAR_000383257R → W in GA1. Corresponds to variant dbSNP:rs766518430EnsemblClinVar.1
    Natural variantiVAR_060588263M → V in GA1; severe phenotype; residual activity of 30% as measured in patient fibroblasts. 1 Publication1
    Natural variantiVAR_000384266M → V in GA1. 1
    Natural variantiVAR_071511268G → V in GA1. 1 PublicationCorresponds to variant dbSNP:rs765723076Ensembl.1
    Natural variantiVAR_000385278P → S in GA1. Corresponds to variant dbSNP:rs751742575Ensembl.1
    Natural variantiVAR_000386283L → P in GA1. 1 Publication1
    Natural variantiVAR_000387293A → T in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434371EnsemblClinVar.1
    Natural variantiVAR_000388294R → W in GA1. 1
    Natural variantiVAR_000389295Y → H in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434366EnsemblClinVar.1
    Natural variantiVAR_000392305S → L in GA1. 1 PublicationCorresponds to variant dbSNP:rs1260580183Ensembl.1
    Natural variantiVAR_000393308C → S in GA1. Corresponds to variant dbSNP:rs1205368991Ensembl.1
    Natural variantiVAR_000394309L → W in GA1. Corresponds to variant dbSNP:rs1247712895Ensembl.1
    Natural variantiVAR_000395313R → W in GA1. Corresponds to variant dbSNP:rs779315456EnsemblClinVar.1
    Natural variantiVAR_000396333Q → E in GA1. Corresponds to variant dbSNP:rs794726972EnsemblClinVar.1
    Natural variantiVAR_000397349A → T in GA1. Corresponds to variant dbSNP:rs1257292639Ensembl.1
    Natural variantiVAR_000398354G → R in GA1. 1
    Natural variantiVAR_000399354G → S in GA1. Corresponds to variant dbSNP:rs768925619EnsemblClinVar.1
    Natural variantiVAR_000400355R → C in GA1. Corresponds to variant dbSNP:rs781477694EnsemblClinVar.1
    Natural variantiVAR_000401355R → H in GA1. Corresponds to variant dbSNP:rs748275416EnsemblClinVar.1
    Natural variantiVAR_000402365E → K in GA1. Corresponds to variant dbSNP:rs121434370EnsemblClinVar.1
    Natural variantiVAR_000403375C → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs1348974766Ensembl.1
    Natural variantiVAR_000404382A → T in GA1. Corresponds to variant dbSNP:rs567564095EnsemblClinVar.1
    Natural variantiVAR_000405383R → C in GA1. Corresponds to variant dbSNP:rs150938052EnsemblClinVar.1
    Natural variantiVAR_000406383R → H in GA1. Corresponds to variant dbSNP:rs764608975EnsemblClinVar.1
    Natural variantiVAR_000407386R → Q in GA1. Corresponds to variant dbSNP:rs398123190Ensembl.1
    Natural variantiVAR_000409390G → A in GA1. Corresponds to variant dbSNP:rs778153326EnsemblClinVar.1
    Natural variantiVAR_000408390G → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs372983141EnsemblClinVar.1
    Natural variantiVAR_000410392N → D in GA1. 1
    Natural variantiVAR_000411400V → M in GA1. Corresponds to variant dbSNP:rs121434372EnsemblClinVar.1
    Natural variantiVAR_000413402R → Q in GA1. Corresponds to variant dbSNP:rs786204626EnsemblClinVar.1
    Natural variantiVAR_000412402R → W in GA1; most common mutation identified; loss of tetramerization; loss enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121434369EnsemblClinVar.1
    Natural variantiVAR_000414403H → R in GA1. 1
    Natural variantiVAR_000415406N → K in GA1. 1
    Natural variantiVAR_000416407L → P in GA1. 1
    Natural variantiVAR_000417414E → K in GA1; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs147611168EnsemblClinVar.1
    Natural variantiVAR_000418416T → I in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434368EnsemblClinVar.1
    Natural variantiVAR_000419421A → T in GA1. Corresponds to variant dbSNP:rs151201155EnsemblClinVar.1
    Natural variantiVAR_000420421A → V in GA1; impaired association of subunits. Corresponds to variant dbSNP:rs121434367EnsemblClinVar.1
    Natural variantiVAR_000421429T → M in GA1. 1 PublicationCorresponds to variant dbSNP:rs745360675EnsemblClinVar.1
    Natural variantiVAR_000422433A → E in GA1. 1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi414E → D: Reduced catalytic activity. 1

    Keywords - Diseasei

    Disease mutation, Glutaricaciduria

    Organism-specific databases

    DisGeNETi2639
    MalaCardsiGCDH
    MIMi231670 phenotype
    OpenTargetsiENSG00000105607
    Orphaneti25 Glutaryl-CoA dehydrogenase deficiency
    PharmGKBiPA28604

    Chemistry databases

    ChEMBLiCHEMBL3817721
    DrugBankiDB03147 Flavin adenine dinucleotide
    DB03245 S-4-Nitrobutyryl-Coa

    Polymorphism and mutation databases

    DMDMi2492631

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 44MitochondrionSequence analysisAdd BLAST44
    ChainiPRO_000000052645 – 438Glutaryl-CoA dehydrogenase, mitochondrialAdd BLAST394

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei240N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    EPDiQ92947
    MaxQBiQ92947
    PaxDbiQ92947
    PeptideAtlasiQ92947
    PRIDEiQ92947
    ProteomicsDBi75618
    75619 [Q92947-2]

    PTM databases

    iPTMnetiQ92947
    PhosphoSitePlusiQ92947

    Expressioni

    Tissue specificityi

    Isoform Long and isoform Short are expressed in fibroblasts and liver.

    Gene expression databases

    BgeeiENSG00000105607 Expressed in 197 organ(s), highest expression level in heart left ventricle
    CleanExiHS_GCDH
    ExpressionAtlasiQ92947 baseline and differential
    GenevisibleiQ92947 HS

    Organism-specific databases

    HPAiHPA043252
    HPA048492

    Interactioni

    Subunit structurei

    Homotetramer.2 Publications

    Protein-protein interaction databases

    BioGridi108909, 20 interactors
    IntActiQ92947, 17 interactors
    STRINGi9606.ENSP00000222214

    Structurei

    Secondary structure

    1438
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ92947
    SMRiQ92947
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ92947

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni138 – 139Substrate binding2
    Regioni287 – 294Substrate binding8

    Sequence similaritiesi

    Belongs to the acyl-CoA dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG0138 Eukaryota
    COG1960 LUCA
    GeneTreeiENSGT00760000119007
    HOGENOMiHOG000131662
    HOVERGENiHBG001939
    InParanoidiQ92947
    KOiK00252
    OMAiEPDHGSN
    OrthoDBiEOG091G07GZ
    PhylomeDBiQ92947
    TreeFamiTF105051

    Family and domain databases

    Gene3Di1.10.540.10, 1 hit
    InterProiView protein in InterPro
    IPR006089 Acyl-CoA_DH_CS
    IPR006091 Acyl-CoA_Oxase/DH_cen-dom
    IPR036250 AcylCo_DH-like_C
    IPR009075 AcylCo_DH/oxidase_C
    IPR013786 AcylCoA_DH/ox_N
    IPR037069 AcylCoA_DH/ox_N_sf
    IPR009100 AcylCoA_DH/oxidase_NM_dom
    PfamiView protein in Pfam
    PF00441 Acyl-CoA_dh_1, 1 hit
    PF02770 Acyl-CoA_dh_M, 1 hit
    PF02771 Acyl-CoA_dh_N, 1 hit
    SUPFAMiSSF47203 SSF47203, 1 hit
    SSF56645 SSF56645, 1 hit
    PROSITEiView protein in PROSITE
    PS00072 ACYL_COA_DH_1, 1 hit
    PS00073 ACYL_COA_DH_2, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

    Isoform Long (identifier: Q92947-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MALRGVSVRL LSRGPGLHVL RTWVSSAAQT EKGGRTQSQL AKSSRPEFDW
    60 70 80 90 100
    QDPLVLEEQL TTDEILIRDT FRTYCQERLM PRILLANRNE VFHREIISEM
    110 120 130 140 150
    GELGVLGPTI KGYGCAGVSS VAYGLLAREL ERVDSGYRSA MSVQSSLVMH
    160 170 180 190 200
    PIYAYGSEEQ RQKYLPQLAK GELLGCFGLT EPNSGSDPSS METRAHYNSS
    210 220 230 240 250
    NKSYTLNGTK TWITNSPMAD LFVVWARCED GCIRGFLLEK GMRGLSAPRI
    260 270 280 290 300
    QGKFSLRASA TGMIIMDGVE VPEENVLPGA SSLGGPFGCL NNARYGIAWG
    310 320 330 340 350
    VLGASEFCLH TARQYALDRM QFGVPLARNQ LIQKKLADML TEITLGLHAC
    360 370 380 390 400
    LQLGRLKDQD KAAPEMVSLL KRNNCGKALD IARQARDMLG GNGISDEYHV
    410 420 430
    IRHAMNLEAV NTYEGTHDIH ALILGRAITG IQAFTASK
    Length:438
    Mass (Da):48,127
    Last modified:February 1, 1997 - v1
    Checksum:i415B8D510027BB63
    GO
    Isoform Short (identifier: Q92947-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         415-438: GTHDIHALILGRAITGIQAFTASK → VVQMCSLKRRWNSL

    Show »
    Length:428
    Mass (Da):47,355
    Checksum:i8E9E298E6DA9433C
    GO

    Computationally mapped potential isoform sequencesi

    There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    K7EKT3K7EKT3_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    164Annotation score:
    K7ES74K7ES74_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    131Annotation score:
    K7EKH1K7EKH1_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    148Annotation score:
    K7ERX1K7ERX1_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    204Annotation score:
    K7EQ99K7EQ99_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    102Annotation score:
    K7ESA6K7ESA6_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    115Annotation score:
    K7ER63K7ER63_HUMAN
    Glutaryl-CoA dehydrogenase, mitocho...
    GCDH
    86Annotation score:

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti33G → A in AAC52079 (PubMed:1438360).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07151064E → D in GA1. 1 Publication1
    Natural variantiVAR_00036688R → C in GA1. Corresponds to variant dbSNP:rs142967670EnsemblClinVar.1
    Natural variantiVAR_00036794R → L in GA1. 1
    Natural variantiVAR_000368101G → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs1273164833Ensembl.1
    Natural variantiVAR_000369115C → Y in GA1. Corresponds to variant dbSNP:rs776758971Ensembl.1
    Natural variantiVAR_000370122A → V in GA1. Corresponds to variant dbSNP:rs766325846EnsemblClinVar.1
    Natural variantiVAR_000371128R → G in GA1. 1
    Natural variantiVAR_000372138R → G in GA1; impaired protein stability; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs897036690Ensembl.1
    Natural variantiVAR_000373139S → L in GA1. Corresponds to variant dbSNP:rs139851890EnsemblClinVar.1
    Natural variantiVAR_000374148V → I in GA1. 1
    Natural variantiVAR_000375161R → Q in GA1. Corresponds to variant dbSNP:rs777201305EnsemblClinVar.1
    Natural variantiVAR_000376178G → R in GA1. Corresponds to variant dbSNP:rs749452002EnsemblClinVar.1
    Natural variantiVAR_000377179L → R in GA1. Corresponds to variant dbSNP:rs774526353EnsemblClinVar.1
    Natural variantiVAR_000378191M → T in GA1. Corresponds to variant dbSNP:rs149120354EnsemblClinVar.1
    Natural variantiVAR_000379195A → T in GA1. 1
    Natural variantiVAR_000380227R → P in GA1. Corresponds to variant dbSNP:rs121434373EnsemblClinVar.1
    Natural variantiVAR_000381236F → L in GA1. Corresponds to variant dbSNP:rs747920711Ensembl.1
    Natural variantiVAR_000382257R → Q in GA1. Corresponds to variant dbSNP:rs751583656EnsemblClinVar.1
    Natural variantiVAR_000383257R → W in GA1. Corresponds to variant dbSNP:rs766518430EnsemblClinVar.1
    Natural variantiVAR_060588263M → V in GA1; severe phenotype; residual activity of 30% as measured in patient fibroblasts. 1 Publication1
    Natural variantiVAR_000384266M → V in GA1. 1
    Natural variantiVAR_071511268G → V in GA1. 1 PublicationCorresponds to variant dbSNP:rs765723076Ensembl.1
    Natural variantiVAR_000385278P → S in GA1. Corresponds to variant dbSNP:rs751742575Ensembl.1
    Natural variantiVAR_000386283L → P in GA1. 1 Publication1
    Natural variantiVAR_000387293A → T in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434371EnsemblClinVar.1
    Natural variantiVAR_000388294R → W in GA1. 1
    Natural variantiVAR_000389295Y → H in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434366EnsemblClinVar.1
    Natural variantiVAR_000390298A → T. Corresponds to variant dbSNP:rs761765983EnsemblClinVar.1
    Natural variantiVAR_000391298A → V. Corresponds to variant dbSNP:rs764993096EnsemblClinVar.1
    Natural variantiVAR_000392305S → L in GA1. 1 PublicationCorresponds to variant dbSNP:rs1260580183Ensembl.1
    Natural variantiVAR_000393308C → S in GA1. Corresponds to variant dbSNP:rs1205368991Ensembl.1
    Natural variantiVAR_000394309L → W in GA1. Corresponds to variant dbSNP:rs1247712895Ensembl.1
    Natural variantiVAR_000395313R → W in GA1. Corresponds to variant dbSNP:rs779315456EnsemblClinVar.1
    Natural variantiVAR_000396333Q → E in GA1. Corresponds to variant dbSNP:rs794726972EnsemblClinVar.1
    Natural variantiVAR_000397349A → T in GA1. Corresponds to variant dbSNP:rs1257292639Ensembl.1
    Natural variantiVAR_000398354G → R in GA1. 1
    Natural variantiVAR_000399354G → S in GA1. Corresponds to variant dbSNP:rs768925619EnsemblClinVar.1
    Natural variantiVAR_000400355R → C in GA1. Corresponds to variant dbSNP:rs781477694EnsemblClinVar.1
    Natural variantiVAR_000401355R → H in GA1. Corresponds to variant dbSNP:rs748275416EnsemblClinVar.1
    Natural variantiVAR_000402365E → K in GA1. Corresponds to variant dbSNP:rs121434370EnsemblClinVar.1
    Natural variantiVAR_000403375C → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs1348974766Ensembl.1
    Natural variantiVAR_000404382A → T in GA1. Corresponds to variant dbSNP:rs567564095EnsemblClinVar.1
    Natural variantiVAR_000405383R → C in GA1. Corresponds to variant dbSNP:rs150938052EnsemblClinVar.1
    Natural variantiVAR_000406383R → H in GA1. Corresponds to variant dbSNP:rs764608975EnsemblClinVar.1
    Natural variantiVAR_000407386R → Q in GA1. Corresponds to variant dbSNP:rs398123190Ensembl.1
    Natural variantiVAR_000409390G → A in GA1. Corresponds to variant dbSNP:rs778153326EnsemblClinVar.1
    Natural variantiVAR_000408390G → R in GA1. 1 PublicationCorresponds to variant dbSNP:rs372983141EnsemblClinVar.1
    Natural variantiVAR_000410392N → D in GA1. 1
    Natural variantiVAR_000411400V → M in GA1. Corresponds to variant dbSNP:rs121434372EnsemblClinVar.1
    Natural variantiVAR_000413402R → Q in GA1. Corresponds to variant dbSNP:rs786204626EnsemblClinVar.1
    Natural variantiVAR_000412402R → W in GA1; most common mutation identified; loss of tetramerization; loss enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121434369EnsemblClinVar.1
    Natural variantiVAR_000414403H → R in GA1. 1
    Natural variantiVAR_000415406N → K in GA1. 1
    Natural variantiVAR_000416407L → P in GA1. 1
    Natural variantiVAR_000417414E → K in GA1; loss of enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs147611168EnsemblClinVar.1
    Natural variantiVAR_000418416T → I in GA1. 1 PublicationCorresponds to variant dbSNP:rs121434368EnsemblClinVar.1
    Natural variantiVAR_000419421A → T in GA1. Corresponds to variant dbSNP:rs151201155EnsemblClinVar.1
    Natural variantiVAR_000420421A → V in GA1; impaired association of subunits. Corresponds to variant dbSNP:rs121434367EnsemblClinVar.1
    Natural variantiVAR_000421429T → M in GA1. 1 PublicationCorresponds to variant dbSNP:rs745360675EnsemblClinVar.1
    Natural variantiVAR_000422433A → E in GA1. 1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_000145415 – 438GTHDI…FTASK → VVQMCSLKRRWNSL in isoform Short. 1 PublicationAdd BLAST24

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U69141 mRNA Translation: AAB08455.1
    AF012342
    , AF012339, AF012340, AF012341 Genomic DNA Translation: AAC52079.1
    BT006706 mRNA Translation: AAP35352.1
    AK290407 mRNA Translation: BAF83096.1
    AD000092 Genomic DNA Translation: AAB51174.1
    CH471106 Genomic DNA Translation: EAW84324.1
    BC002579 mRNA Translation: AAH02579.1
    CCDSiCCDS12286.1 [Q92947-1]
    PIRiT44260
    T45073
    RefSeqiNP_000150.1, NM_000159.3 [Q92947-1]
    NP_039663.1, NM_013976.3 [Q92947-2]
    UniGeneiHs.532699

    Genome annotation databases

    EnsembliENST00000222214; ENSP00000222214; ENSG00000105607 [Q92947-1]
    ENST00000591470; ENSP00000466845; ENSG00000105607 [Q92947-1]
    GeneIDi2639
    KEGGihsa:2639
    UCSCiuc002mvq.5 human [Q92947-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U69141 mRNA Translation: AAB08455.1
    AF012342
    , AF012339, AF012340, AF012341 Genomic DNA Translation: AAC52079.1
    BT006706 mRNA Translation: AAP35352.1
    AK290407 mRNA Translation: BAF83096.1
    AD000092 Genomic DNA Translation: AAB51174.1
    CH471106 Genomic DNA Translation: EAW84324.1
    BC002579 mRNA Translation: AAH02579.1
    CCDSiCCDS12286.1 [Q92947-1]
    PIRiT44260
    T45073
    RefSeqiNP_000150.1, NM_000159.3 [Q92947-1]
    NP_039663.1, NM_013976.3 [Q92947-2]
    UniGeneiHs.532699

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1SIQX-ray2.10A47-438[»]
    1SIRX-ray2.60A45-438[»]
    2R0MX-ray2.70A45-438[»]
    2R0NX-ray2.30A45-438[»]
    ProteinModelPortaliQ92947
    SMRiQ92947
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi108909, 20 interactors
    IntActiQ92947, 17 interactors
    STRINGi9606.ENSP00000222214

    Chemistry databases

    ChEMBLiCHEMBL3817721
    DrugBankiDB03147 Flavin adenine dinucleotide
    DB03245 S-4-Nitrobutyryl-Coa

    PTM databases

    iPTMnetiQ92947
    PhosphoSitePlusiQ92947

    Polymorphism and mutation databases

    DMDMi2492631

    Proteomic databases

    EPDiQ92947
    MaxQBiQ92947
    PaxDbiQ92947
    PeptideAtlasiQ92947
    PRIDEiQ92947
    ProteomicsDBi75618
    75619 [Q92947-2]

    Protocols and materials databases

    DNASUi2639
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000222214; ENSP00000222214; ENSG00000105607 [Q92947-1]
    ENST00000591470; ENSP00000466845; ENSG00000105607 [Q92947-1]
    GeneIDi2639
    KEGGihsa:2639
    UCSCiuc002mvq.5 human [Q92947-1]

    Organism-specific databases

    CTDi2639
    DisGeNETi2639
    EuPathDBiHostDB:ENSG00000105607.12
    GeneCardsiGCDH
    HGNCiHGNC:4189 GCDH
    HPAiHPA043252
    HPA048492
    MalaCardsiGCDH
    MIMi231670 phenotype
    608801 gene
    neXtProtiNX_Q92947
    OpenTargetsiENSG00000105607
    Orphaneti25 Glutaryl-CoA dehydrogenase deficiency
    PharmGKBiPA28604
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0138 Eukaryota
    COG1960 LUCA
    GeneTreeiENSGT00760000119007
    HOGENOMiHOG000131662
    HOVERGENiHBG001939
    InParanoidiQ92947
    KOiK00252
    OMAiEPDHGSN
    OrthoDBiEOG091G07GZ
    PhylomeDBiQ92947
    TreeFamiTF105051

    Enzyme and pathway databases

    UniPathwayi
    UPA00224

    UPA00225

    BRENDAi1.3.8.6 2681
    ReactomeiR-HSA-71064 Lysine catabolism
    SABIO-RKiQ92947

    Miscellaneous databases

    ChiTaRSiGCDH human
    EvolutionaryTraceiQ92947
    GenomeRNAii2639
    PROiPR:Q92947
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000105607 Expressed in 197 organ(s), highest expression level in heart left ventricle
    CleanExiHS_GCDH
    ExpressionAtlasiQ92947 baseline and differential
    GenevisibleiQ92947 HS

    Family and domain databases

    Gene3Di1.10.540.10, 1 hit
    InterProiView protein in InterPro
    IPR006089 Acyl-CoA_DH_CS
    IPR006091 Acyl-CoA_Oxase/DH_cen-dom
    IPR036250 AcylCo_DH-like_C
    IPR009075 AcylCo_DH/oxidase_C
    IPR013786 AcylCoA_DH/ox_N
    IPR037069 AcylCoA_DH/ox_N_sf
    IPR009100 AcylCoA_DH/oxidase_NM_dom
    PfamiView protein in Pfam
    PF00441 Acyl-CoA_dh_1, 1 hit
    PF02770 Acyl-CoA_dh_M, 1 hit
    PF02771 Acyl-CoA_dh_N, 1 hit
    SUPFAMiSSF47203 SSF47203, 1 hit
    SSF56645 SSF56645, 1 hit
    PROSITEiView protein in PROSITE
    PS00072 ACYL_COA_DH_1, 1 hit
    PS00073 ACYL_COA_DH_2, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiGCDH_HUMAN
    AccessioniPrimary (citable) accession number: Q92947
    Secondary accession number(s): A8K2Z2, O14719
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: February 1, 1997
    Last modified: November 7, 2018
    This is version 192 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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