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Aliases for GCDH Gene

Aliases for GCDH Gene

  • Glutaryl-CoA Dehydrogenase 2 3 5
  • Glutaryl-Coenzyme A Dehydrogenase 2 3
  • GCD 3 4
  • Glutaryl-CoA Dehydrogenase, Mitochondrial 3
  • Truncated GCDH 3
  • EC 1.3.99.7 61
  • EC 1.3.8.6 4
  • EC 1.3.99 61
  • ACAD5 3

External Ids for GCDH Gene

Previous GeneCards Identifiers for GCDH Gene

  • GC19P013133
  • GC19P013224
  • GC19P012847
  • GC19P012862
  • GC19P012863
  • GC19P013001
  • GC19P012573

Summaries for GCDH Gene

Entrez Gene Summary for GCDH Gene

  • 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]

GeneCards Summary for GCDH Gene

GCDH (Glutaryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with GCDH include Glutaricaciduria, Type I and Athetosis. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot for GCDH Gene

  • 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. Isoform Short is inactive.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCDH Gene

Genomics for GCDH Gene

Regulatory Elements for GCDH Gene

Enhancers for GCDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F012911 1.6 FANTOM5 Ensembl ENCODE 17.9 +22.5 22538 3.3 HDGF PKNOX1 ARNT MLX SIN3A ARID4B DMAP1 FEZF1 ZNF2 YY1 GCDH MIR24-2 DAND5 TNPO2 ZNF709 MAST1 SYCE2 RPS6P25
GH19F012936 1.5 FANTOM5 ENCODE 16.6 +48.1 48106 5.9 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 C19orf43 MTCO1P27 GCDH ENSG00000267735 MIR181C WDR83OS SYCE2 CCDC130 ZNF136 ENSG00000268945
GH19F012943 1.2 ENCODE 16.5 +55.9 55894 6.8 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 CCDC130 ZNF564 WDR83OS ZNF136 ZNF442 ZNF799 MRI1 ZNF844 ZNF44 GCDH
GH19F012918 1.1 ENCODE 17.9 +28.8 28845 2.2 HDGF PKNOX1 ARNT CREB3L1 SIN3A ZNF2 ZNF143 ZNF207 KLF13 DEK ZNF136 CCDC130 ZNF564 ZNF844 ZNF44 ZNF791 ZNF625 WDR83OS ENSG00000242615 ZNF700
GH19F012890 1.1 ENCODE 17 +0.3 255 1.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS GCDH MIR24-2 RPS6P25
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GCDH on UCSC Golden Path with GeneCards custom track

Promoters for GCDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000343699 274 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS

Genomic Location for GCDH Gene

Chromosome:
19
Start:
12,891,026 bp from pter
End:
12,914,630 bp from pter
Size:
23,605 bases
Orientation:
Plus strand

Genomic View for GCDH Gene

Genes around GCDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCDH Gene

Proteins for GCDH Gene

  • Protein details for GCDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92947-GCDH_HUMAN
    Recommended name:
    Glutaryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Q92947
    Secondary Accessions:
    • A8K2Z2
    • O14719

    Protein attributes for GCDH Gene

    Size:
    438 amino acids
    Molecular mass:
    48127 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for GCDH Gene

    Alternative splice isoforms for GCDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCDH Gene

Selected DME Specific Peptides for GCDH Gene

Q92947:
  • VNTYEGTHD
  • LAKGELLGCFGLTEPN
  • VEVPEENVLP
  • PIYAYGSEEQ
  • VWARCED
  • LKRNNCGKALDIARQARD
  • KLADMLTEITLGLHACLQLGRLKDQDK
  • HALILGRAITG
  • FGLTEPN

Post-translational modifications for GCDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GCDH Gene

Gene Families for GCDH Gene

Graphical View of Domain Structure for InterPro Entry

Q92947

UniProtKB/Swiss-Prot:

GCDH_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with GCDH: view

Function for GCDH Gene

Molecular function for GCDH Gene

GENATLAS Biochemistry:
glutaryl-CoA dehydrogenase,flavoprotein dependent,mitochondrial matrix,lysine oxidation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.7 uM for glutaryl-CoA (at pH 6.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=5.5 uM for glutaryl-CoA (at pH 7.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=8.1 uM for glutaryl-CoA (at pH 7.6) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; KM=34.0 uM for glutaryl-CoA (at pH 8.5) {ECO:0000269 PubMed:17176108, ECO:0000269 PubMed:6423663}; Note=Release of crotonyl-CoA product from the enzyme is the rate-determining step in its steady-state turnover.;
UniProtKB/Swiss-Prot CatalyticActivity:
Glutaryl-CoA + electron-transfer flavoprotein = crotonyl-CoA + CO(2) + reduced electron-transfer flavoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree.
UniProtKB/Swiss-Prot Function:
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. Isoform Short is inactive.

Enzyme Numbers (IUBMB) for GCDH Gene

Gene Ontology (GO) - Molecular Function for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0004361 glutaryl-CoA dehydrogenase activity EXP,TAS 18775954
GO:0009055 electron carrier activity IBA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with GCDH: view
genes like me logo Genes that share phenotypes with GCDH: view

Human Phenotype Ontology for GCDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCDH Gene

MGI Knock Outs for GCDH:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GCDH Gene

Localization for GCDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCDH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCDH gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GCDH: view

Pathways & Interactions for GCDH Gene

genes like me logo Genes that share pathways with GCDH: view

UniProtKB/Swiss-Prot Q92947-GCDH_HUMAN

  • Pathway: Amino-acid metabolism; lysine degradation.
  • Pathway: Amino-acid metabolism; tryptophan metabolism.

Gene Ontology (GO) - Biological Process for GCDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006554 lysine catabolic process TAS --
GO:0006568 tryptophan metabolic process IEA --
GO:0006637 acyl-CoA metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0019395 fatty acid oxidation IEA --
genes like me logo Genes that share ontologies with GCDH: view

No data available for SIGNOR curated interactions for GCDH Gene

Drugs & Compounds for GCDH Gene

(9) Drugs for GCDH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Carbon dioxide Approved, Vet_approved Pharma 0
S-4-Nitrobutyryl-Coa Experimental Pharma Target 0
Propionyl-CoA Experimental Pharma 0

(38) Additional Compounds for GCDH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glutaryl-coa
  • Glutaryl-CoA
  • Glutaryl-coenzyme A
103192-48-9
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with GCDH: view

Transcripts for GCDH Gene

Unigene Clusters for GCDH Gene

Glutaryl-CoA dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCDH Gene

No ASD Table

Relevant External Links for GCDH Gene

GeneLoc Exon Structure for
GCDH
ECgene alternative splicing isoforms for
GCDH

Expression for GCDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GCDH Gene

mRNA differential expression in normal tissues according to GTEx for GCDH Gene

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for GCDH Gene

This gene is overexpressed in Liver (10.0), Salivary gland (7.3), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GCDH Gene



Protein tissue co-expression partners for GCDH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GCDH Gene:

GCDH

SOURCE GeneReport for Unigene cluster for GCDH Gene:

Hs.532699

mRNA Expression by UniProt/SwissProt for GCDH Gene:

Q92947-GCDH_HUMAN
Tissue specificity: Isoform Long and isoform Short are expressed in fibroblasts and liver.
genes like me logo Genes that share expression patterns with GCDH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GCDH Gene

Orthologs for GCDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCDH 34 35
  • 98.63 (n)
dog
(Canis familiaris)
Mammalia GCDH 34 35
  • 87.98 (n)
cow
(Bos Taurus)
Mammalia GCDH 34 35
  • 86.91 (n)
mouse
(Mus musculus)
Mammalia Gcdh 34 16 35
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Gcdh 34
  • 83.07 (n)
oppossum
(Monodelphis domestica)
Mammalia GCDH 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCDH 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCDH 34
  • 79.06 (n)
lizard
(Anolis carolinensis)
Reptilia GCDH 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcdh 34
  • 72.08 (n)
Str.16156 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6713 34
zebrafish
(Danio rerio)
Actinopterygii gcdh 35
  • 72 (a)
OneToMany
gcdhl 34 35
  • 70.65 (n)
zgc77704 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5525 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008501 34
  • 66.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9547 36 34 35
  • 65.33 (n)
worm
(Caenorhabditis elegans)
Secernentea F54D5.7 36 35
  • 64 (a)
CELE_F54D5.7 34
  • 61.39 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACX4 34
  • 46.51 (n)
rice
(Oryza sativa)
Liliopsida Os01g0159400 34
  • 46.33 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02291 34
  • 62.1 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4265 34
Species where no ortholog for GCDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCDH Gene

ENSEMBL:
Gene Tree for GCDH (if available)
TreeFam:
Gene Tree for GCDH (if available)

Paralogs for GCDH Gene

Paralogs for GCDH Gene

Pseudogenes.org Pseudogenes for GCDH Gene

genes like me logo Genes that share paralogs with GCDH: view

Variants for GCDH Gene

Sequence variations from dbSNP and Humsavar for GCDH Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121434366 Glutaric aciduria 1 (GA1) [MIM:231670], Pathogenic 12,896,940(+) CCCGG(C/T)ACGGC nc-transcript-variant, reference, missense
rs121434367 Glutaric aciduria 1 (GA1) [MIM:231670], Pathogenic 12,899,486(+) TCACG(C/T)CCTGA intron-variant, nc-transcript-variant, reference, missense
rs121434368 Glutaric aciduria 1 (GA1) [MIM:231670], Pathogenic 12,899,471(+) AGGTA(C/T)ACATG intron-variant, nc-transcript-variant, reference, missense
rs121434369 Glutaric aciduria 1 (GA1) [MIM:231670], Pathogenic 12,897,824(+) TGATC(C/T)GGCAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs121434370 Glutaric aciduria 1 (GA1) [MIM:231670], Pathogenic 12,897,713(+) CCCCC(A/G)AGATG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GCDH Gene

Variant ID Type Subtype PubMed ID
nsv1160589 CNV duplication 26073780
nsv833754 CNV loss 17160897
nsv953977 CNV deletion 24416366
nsv961183 CNV duplication 23825009

Variation tolerance for GCDH Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCDH Gene

Human Gene Mutation Database (HGMD)
GCDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCDH Gene

Disorders for GCDH Gene

MalaCards: The human disease database

(11) MalaCards diseases for GCDH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glutaricaciduria, type i
  • glutaric acidemia i
athetosis
early-onset generalized dystonia
  • dystonia musculorum deformans
epithelial-stromal tgfbi dystrophy
corneal dystrophy, avellino type
  • granular corneal dystrophy type ii
- elite association - COSMIC cancer census association via MalaCards
Search GCDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCDH_HUMAN
  • Glutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. {ECO:0000269 PubMed:14707522, ECO:0000269 PubMed:24973495, ECO:0000269 PubMed:8541831, ECO:0000269 PubMed:8900227, ECO:0000269 PubMed:8900228, ECO:0000269 PubMed:9600243}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GCDH

Genetic Association Database (GAD)
GCDH
Human Genome Epidemiology (HuGE) Navigator
GCDH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCDH
genes like me logo Genes that share disorders with GCDH: view

No data available for Genatlas for GCDH Gene

Publications for GCDH Gene

  1. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). (PMID: 18775954) Keyser B. … Braulke T. (Hum. Mol. Genet. 2008) 3 4 22 64
  2. Kinetic mechanism of glutaryl-CoA dehydrogenase. (PMID: 17176108) Rao K.S. … Frerman F.E. (Biochemistry 2006) 3 4 22 64
  3. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. (PMID: 15274622) Fu Z. … Kim J.-J.P. (Biochemistry 2004) 3 4 22 64
  4. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. (PMID: 9600243) Schwartz M. … Brandt N.J. (Hum. Genet. 1998) 3 4 22 64
  5. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. (PMID: 9711871) Goodman S.I. … Elpeleg O.N. (Hum. Mutat. 1998) 3 4 22 64

Products for GCDH Gene

Sources for GCDH Gene

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