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Protein

Glutaryl-CoA dehydrogenase, mitochondrial

Gene

GCDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Enzyme 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

    Complete GO annotation...

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    BioCyciZFISH:HS02769-MONOMER.
    BRENDAi1.3.8.6. 2681.
    ReactomeiR-HSA-71064. Lysine catabolism.
    SABIO-RKQ92947.
    UniPathwayiUPA00224.
    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

    HGNCiHGNC:4189. GCDH.

    Subcellular locationi

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Glutaric aciduria 1 (GA1)6 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 rs142967670dbSNPEnsembl.1
    Natural variantiVAR_00036794R → L in GA1. 1
    Natural variantiVAR_000368101G → R in GA1. 1 Publication1
    Natural variantiVAR_000369115C → Y in GA1. Corresponds to variant rs776758971dbSNPEnsembl.1
    Natural variantiVAR_000370122A → V in GA1. Corresponds to variant rs766325846dbSNPEnsembl.1
    Natural variantiVAR_000371128R → G in GA1. 1
    Natural variantiVAR_000372138R → G in GA1; impaired protein stability; loss of activity. 1 Publication1
    Natural variantiVAR_000373139S → L in GA1. Corresponds to variant rs139851890dbSNPEnsembl.1
    Natural variantiVAR_000374148V → I in GA1. 1
    Natural variantiVAR_000375161R → Q in GA1. Corresponds to variant rs777201305dbSNPEnsembl.1
    Natural variantiVAR_000376178G → R in GA1. Corresponds to variant rs749452002dbSNPEnsembl.1
    Natural variantiVAR_000377179L → R in GA1. Corresponds to variant rs774526353dbSNPEnsembl.1
    Natural variantiVAR_000378191M → T in GA1. Corresponds to variant rs149120354dbSNPEnsembl.1
    Natural variantiVAR_000379195A → T in GA1. 1
    Natural variantiVAR_000380227R → P in GA1. Corresponds to variant rs121434373dbSNPEnsembl.1
    Natural variantiVAR_000381236F → L in GA1. Corresponds to variant rs747920711dbSNPEnsembl.1
    Natural variantiVAR_000382257R → Q in GA1. Corresponds to variant rs751583656dbSNPEnsembl.1
    Natural variantiVAR_000383257R → W in GA1. Corresponds to variant rs766518430dbSNPEnsembl.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 rs765723076dbSNPEnsembl.1
    Natural variantiVAR_000385278P → S in GA1. Corresponds to variant rs751742575dbSNPEnsembl.1
    Natural variantiVAR_000386283L → P in GA1. 1 Publication1
    Natural variantiVAR_000387293A → T in GA1. 1 PublicationCorresponds to variant rs121434371dbSNPEnsembl.1
    Natural variantiVAR_000388294R → W in GA1. 1
    Natural variantiVAR_000389295Y → H in GA1. 1 PublicationCorresponds to variant rs121434366dbSNPEnsembl.1
    Natural variantiVAR_000392305S → L in GA1. 1 Publication1
    Natural variantiVAR_000393308C → S in GA1. 1
    Natural variantiVAR_000394309L → W in GA1. 1
    Natural variantiVAR_000395313R → W in GA1. Corresponds to variant rs779315456dbSNPEnsembl.1
    Natural variantiVAR_000396333Q → E in GA1. Corresponds to variant rs794726972dbSNPEnsembl.1
    Natural variantiVAR_000397349A → T in GA1. 1
    Natural variantiVAR_000398354G → R in GA1. 1
    Natural variantiVAR_000399354G → S in GA1. Corresponds to variant rs768925619dbSNPEnsembl.1
    Natural variantiVAR_000400355R → C in GA1. Corresponds to variant rs781477694dbSNPEnsembl.1
    Natural variantiVAR_000401355R → H in GA1. Corresponds to variant rs748275416dbSNPEnsembl.1
    Natural variantiVAR_000402365E → K in GA1. Corresponds to variant rs121434370dbSNPEnsembl.1
    Natural variantiVAR_000403375C → R in GA1. 1 Publication1
    Natural variantiVAR_000404382A → T in GA1. Corresponds to variant rs567564095dbSNPEnsembl.1
    Natural variantiVAR_000405383R → C in GA1. Corresponds to variant rs150938052dbSNPEnsembl.1
    Natural variantiVAR_000406383R → H in GA1. Corresponds to variant rs764608975dbSNPEnsembl.1
    Natural variantiVAR_000407386R → Q in GA1. Corresponds to variant rs398123190dbSNPEnsembl.1
    Natural variantiVAR_000409390G → A in GA1. 1
    Natural variantiVAR_000408390G → R in GA1. 1 PublicationCorresponds to variant rs372983141dbSNPEnsembl.1
    Natural variantiVAR_000410392N → D in GA1. 1
    Natural variantiVAR_000411400V → M in GA1. Corresponds to variant rs121434372dbSNPEnsembl.1
    Natural variantiVAR_000413402R → Q in GA1. Corresponds to variant rs786204626dbSNPEnsembl.1
    Natural variantiVAR_000412402R → W in GA1; most common mutation identified; loss of tetramerization; loss enzyme activity. 2 PublicationsCorresponds to variant rs121434369dbSNPEnsembl.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 rs147611168dbSNPEnsembl.1
    Natural variantiVAR_000418416T → I in GA1. 1 PublicationCorresponds to variant rs121434368dbSNPEnsembl.1
    Natural variantiVAR_000419421A → T in GA1. Corresponds to variant rs151201155dbSNPEnsembl.1
    Natural variantiVAR_000420421A → V in GA1; impaired association of subunits. Corresponds to variant rs121434367dbSNPEnsembl.1
    Natural variantiVAR_000421429T → M in GA1. 1 PublicationCorresponds to variant rs745360675dbSNPEnsembl.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

    DrugBankiDB03147. Flavin adenine dinucleotide.

    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.

    PTM databases

    iPTMnetiQ92947.
    PhosphoSitePlusiQ92947.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000105607.
    CleanExiHS_GCDH.
    ExpressionAtlasiQ92947. baseline and differential.
    GenevisibleiQ92947. HS.

    Organism-specific databases

    HPAiHPA043252.
    HPA048492.

    Interactioni

    Subunit structurei

    Homotetramer.2 Publications

    Protein-protein interaction databases

    BioGridi108909. 18 interactors.
    IntActiQ92947. 15 interactors.
    STRINGi9606.ENSP00000222214.

    Structurei

    Secondary structure

    1438
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Helixi56 – 59Combined sources4
    Helixi62 – 78Combined sources17
    Helixi80 – 89Combined sources10
    Helixi95 – 102Combined sources8
    Helixi120 – 131Combined sources12
    Helixi135 – 146Combined sources12
    Helixi149 – 155Combined sources7
    Helixi158 – 169Combined sources12
    Beta strandi175 – 178Combined sources4
    Beta strandi184 – 186Combined sources3
    Helixi188 – 190Combined sources3
    Beta strandi194 – 198Combined sources5
    Turni199 – 202Combined sources4
    Beta strandi203 – 214Combined sources12
    Helixi216 – 218Combined sources3
    Beta strandi220 – 228Combined sources9
    Beta strandi233 – 239Combined sources7
    Beta strandi254 – 256Combined sources3
    Beta strandi261 – 272Combined sources12
    Helixi273 – 275Combined sources3
    Helixi284 – 318Combined sources35
    Helixi326 – 328Combined sources3
    Helixi330 – 358Combined sources29
    Helixi364 – 388Combined sources25
    Helixi389 – 394Combined sources6
    Helixi396 – 398Combined sources3
    Helixi400 – 410Combined sources11
    Beta strandi413 – 415Combined sources3
    Helixi417 – 429Combined sources13

    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...

    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.
    OMAiRCEDGCI.
    OrthoDBiEOG091G07GZ.
    PhylomeDBiQ92947.
    TreeFamiTF105051.

    Family and domain databases

    Gene3Di1.10.540.10. 1 hit.
    InterProiIPR006089. Acyl-CoA_DH_CS.
    IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
    IPR009075. AcylCo_DH/oxidase_C.
    IPR013786. AcylCoA_DH/ox_N.
    IPR009100. AcylCoA_DH/oxidase_NM_dom.
    [Graphical view]
    PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
    PF02770. Acyl-CoA_dh_M. 1 hit.
    PF02771. Acyl-CoA_dh_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF47203. SSF47203. 1 hit.
    SSF56645. SSF56645. 1 hit.
    PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
    PS00073. ACYL_COA_DH_2. 1 hit.
    [Graphical view]

    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

    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

    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 rs142967670dbSNPEnsembl.1
    Natural variantiVAR_00036794R → L in GA1. 1
    Natural variantiVAR_000368101G → R in GA1. 1 Publication1
    Natural variantiVAR_000369115C → Y in GA1. Corresponds to variant rs776758971dbSNPEnsembl.1
    Natural variantiVAR_000370122A → V in GA1. Corresponds to variant rs766325846dbSNPEnsembl.1
    Natural variantiVAR_000371128R → G in GA1. 1
    Natural variantiVAR_000372138R → G in GA1; impaired protein stability; loss of activity. 1 Publication1
    Natural variantiVAR_000373139S → L in GA1. Corresponds to variant rs139851890dbSNPEnsembl.1
    Natural variantiVAR_000374148V → I in GA1. 1
    Natural variantiVAR_000375161R → Q in GA1. Corresponds to variant rs777201305dbSNPEnsembl.1
    Natural variantiVAR_000376178G → R in GA1. Corresponds to variant rs749452002dbSNPEnsembl.1
    Natural variantiVAR_000377179L → R in GA1. Corresponds to variant rs774526353dbSNPEnsembl.1
    Natural variantiVAR_000378191M → T in GA1. Corresponds to variant rs149120354dbSNPEnsembl.1
    Natural variantiVAR_000379195A → T in GA1. 1
    Natural variantiVAR_000380227R → P in GA1. Corresponds to variant rs121434373dbSNPEnsembl.1
    Natural variantiVAR_000381236F → L in GA1. Corresponds to variant rs747920711dbSNPEnsembl.1
    Natural variantiVAR_000382257R → Q in GA1. Corresponds to variant rs751583656dbSNPEnsembl.1
    Natural variantiVAR_000383257R → W in GA1. Corresponds to variant rs766518430dbSNPEnsembl.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 rs765723076dbSNPEnsembl.1
    Natural variantiVAR_000385278P → S in GA1. Corresponds to variant rs751742575dbSNPEnsembl.1
    Natural variantiVAR_000386283L → P in GA1. 1 Publication1
    Natural variantiVAR_000387293A → T in GA1. 1 PublicationCorresponds to variant rs121434371dbSNPEnsembl.1
    Natural variantiVAR_000388294R → W in GA1. 1
    Natural variantiVAR_000389295Y → H in GA1. 1 PublicationCorresponds to variant rs121434366dbSNPEnsembl.1
    Natural variantiVAR_000390298A → T.Corresponds to variant rs761765983dbSNPEnsembl.1
    Natural variantiVAR_000391298A → V.Corresponds to variant rs764993096dbSNPEnsembl.1
    Natural variantiVAR_000392305S → L in GA1. 1 Publication1
    Natural variantiVAR_000393308C → S in GA1. 1
    Natural variantiVAR_000394309L → W in GA1. 1
    Natural variantiVAR_000395313R → W in GA1. Corresponds to variant rs779315456dbSNPEnsembl.1
    Natural variantiVAR_000396333Q → E in GA1. Corresponds to variant rs794726972dbSNPEnsembl.1
    Natural variantiVAR_000397349A → T in GA1. 1
    Natural variantiVAR_000398354G → R in GA1. 1
    Natural variantiVAR_000399354G → S in GA1. Corresponds to variant rs768925619dbSNPEnsembl.1
    Natural variantiVAR_000400355R → C in GA1. Corresponds to variant rs781477694dbSNPEnsembl.1
    Natural variantiVAR_000401355R → H in GA1. Corresponds to variant rs748275416dbSNPEnsembl.1
    Natural variantiVAR_000402365E → K in GA1. Corresponds to variant rs121434370dbSNPEnsembl.1
    Natural variantiVAR_000403375C → R in GA1. 1 Publication1
    Natural variantiVAR_000404382A → T in GA1. Corresponds to variant rs567564095dbSNPEnsembl.1
    Natural variantiVAR_000405383R → C in GA1. Corresponds to variant rs150938052dbSNPEnsembl.1
    Natural variantiVAR_000406383R → H in GA1. Corresponds to variant rs764608975dbSNPEnsembl.1
    Natural variantiVAR_000407386R → Q in GA1. Corresponds to variant rs398123190dbSNPEnsembl.1
    Natural variantiVAR_000409390G → A in GA1. 1
    Natural variantiVAR_000408390G → R in GA1. 1 PublicationCorresponds to variant rs372983141dbSNPEnsembl.1
    Natural variantiVAR_000410392N → D in GA1. 1
    Natural variantiVAR_000411400V → M in GA1. Corresponds to variant rs121434372dbSNPEnsembl.1
    Natural variantiVAR_000413402R → Q in GA1. Corresponds to variant rs786204626dbSNPEnsembl.1
    Natural variantiVAR_000412402R → W in GA1; most common mutation identified; loss of tetramerization; loss enzyme activity. 2 PublicationsCorresponds to variant rs121434369dbSNPEnsembl.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 rs147611168dbSNPEnsembl.1
    Natural variantiVAR_000418416T → I in GA1. 1 PublicationCorresponds to variant rs121434368dbSNPEnsembl.1
    Natural variantiVAR_000419421A → T in GA1. Corresponds to variant rs151201155dbSNPEnsembl.1
    Natural variantiVAR_000420421A → V in GA1; impaired association of subunits. Corresponds to variant rs121434367dbSNPEnsembl.1
    Natural variantiVAR_000421429T → M in GA1. 1 PublicationCorresponds to variant rs745360675dbSNPEnsembl.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

    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. 18 interactors.
    IntActiQ92947. 15 interactors.
    STRINGi9606.ENSP00000222214.

    Chemistry databases

    DrugBankiDB03147. Flavin adenine dinucleotide.

    PTM databases

    iPTMnetiQ92947.
    PhosphoSitePlusiQ92947.

    Polymorphism and mutation databases

    DMDMi2492631.

    Proteomic databases

    EPDiQ92947.
    MaxQBiQ92947.
    PaxDbiQ92947.
    PeptideAtlasiQ92947.
    PRIDEiQ92947.

    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.
    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.
    OMAiRCEDGCI.
    OrthoDBiEOG091G07GZ.
    PhylomeDBiQ92947.
    TreeFamiTF105051.

    Enzyme and pathway databases

    UniPathwayiUPA00224.
    UPA00225.
    BioCyciZFISH:HS02769-MONOMER.
    BRENDAi1.3.8.6. 2681.
    ReactomeiR-HSA-71064. Lysine catabolism.
    SABIO-RKQ92947.

    Miscellaneous databases

    ChiTaRSiGCDH. human.
    EvolutionaryTraceiQ92947.
    GenomeRNAii2639.
    PROiQ92947.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000105607.
    CleanExiHS_GCDH.
    ExpressionAtlasiQ92947. baseline and differential.
    GenevisibleiQ92947. HS.

    Family and domain databases

    Gene3Di1.10.540.10. 1 hit.
    InterProiIPR006089. Acyl-CoA_DH_CS.
    IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
    IPR009075. AcylCo_DH/oxidase_C.
    IPR013786. AcylCoA_DH/ox_N.
    IPR009100. AcylCoA_DH/oxidase_NM_dom.
    [Graphical view]
    PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
    PF02770. Acyl-CoA_dh_M. 1 hit.
    PF02771. Acyl-CoA_dh_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF47203. SSF47203. 1 hit.
    SSF56645. SSF56645. 1 hit.
    PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
    PS00073. ACYL_COA_DH_2. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiGCDH_HUMAN
    AccessioniPrimary (citable) accession number: Q92947
    Secondary accession number(s): A8K2Z2, O14719
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: February 1, 1997
    Last modified: November 2, 2016
    This is version 179 of the entry and version 1 of the sequence. [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. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.