Human Gene GCDH (ENST00000222214.10_4) from GENCODE V47lift37
  Description: glutaryl-CoA dehydrogenase, transcript variant 4 (from RefSeq NR_102317.1)
Gencode Transcript: ENST00000222214.10_4
Gencode Gene: ENSG00000105607.14_11
Transcript (Including UTRs)
   Position: hg19 chr19:13,001,974-13,010,813 Size: 8,840 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr19:13,002,119-13,010,355 Size: 8,237 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:13,001,974-13,010,813)mRNA (may differ from genome)Protein (438 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GCDH_HUMAN
DESCRIPTION: RecName: Full=Glutaryl-CoA dehydrogenase, mitochondrial; Short=GCD; EC=1.3.8.6; Flags: Precursor;
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.
CATALYTIC ACTIVITY: Glutaryl-CoA + electron-transfer flavoprotein = (E)-but-2-enoyl-CoA + CO(2) + reduced electron-transfer flavoprotein.
COFACTOR: FAD.
PATHWAY: Amino-acid metabolism; lysine degradation.
PATHWAY: Amino-acid metabolism; tryptophan metabolism.
SUBUNIT: Homotetramer.
INTERACTION: P62993:GRB2; NbExp=1; IntAct=EBI-1236978, EBI-401755; P29474:NOS3; NbExp=1; IntAct=EBI-1236978, EBI-1391623; P49768:PSEN1; NbExp=1; IntAct=EBI-1236978, EBI-297277;
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in fibroblasts and liver.
DISEASE: Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
SIMILARITY: Belongs to the acyl-CoA dehydrogenase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCDH";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GCDH
Diseases sorted by gene-association score: glutaricaciduria, type i* (1650), athetosis (18), epithelial-stromal tgfbi dystrophy (12), d-2-hydroxyglutaric aciduria (10), early-onset generalized dystonia (10), corneal dystrophy, avellino type (10), 2-hydroxyglutaric aciduria (10), corneal dystrophy, reis-bucklers type (9), corneal granular dystrophy (8), corneal dystrophy, thiel-behnke type (5), dystonia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.57 RPKM in Liver
Total median expression: 362.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.9077-0.297 Picture PostScript Text
3' UTR -162.20458-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006089 - Acyl-CoA_DH_CS
IPR006092 - Acyl-CoA_DH_N
IPR006090 - Acyl-CoA_Oxase/DH_1
IPR006091 - Acyl-CoA_Oxase/DH_cen-dom
IPR009075 - AcylCo_DH/oxidase_C
IPR013786 - AcylCoA_DH/ox_N
IPR009100 - AcylCoA_DH/oxidase

Pfam Domains:
PF00441 - Acyl-CoA dehydrogenase, C-terminal domain
PF02770 - Acyl-CoA dehydrogenase, middle domain
PF02771 - Acyl-CoA dehydrogenase, N-terminal domain

SCOP Domains:
47203 - Acyl-CoA dehydrogenase C-terminal domain-like
56645 - Acyl-CoA dehydrogenase NM domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SIQ - X-ray 1SIR - X-ray 2R0M - X-ray MuPIT 2R0N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92947
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000062 fatty-acyl-CoA binding
GO:0003995 acyl-CoA dehydrogenase activity
GO:0004361 glutaryl-CoA dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors
GO:0050660 flavin adenine dinucleotide binding

Biological Process:
GO:0006554 lysine catabolic process
GO:0006568 tryptophan metabolic process
GO:0006637 acyl-CoA metabolic process
GO:0019395 fatty acid oxidation
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase
GO:0046949 fatty-acyl-CoA biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  KR674114 - Homo sapiens truncated GCDH (GCDH) mRNA, complete cds.
KT996148 - Homo sapiens isolate case 1 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297254 - Homo sapiens isolate case12 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297255 - Homo sapiens isolate case 10 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297256 - Homo sapiens isolate case 16 truncated glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297257 - Homo sapiens isolate case 20 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297258 - Homo sapiens isolate case 5 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297259 - Homo sapiens isolate case 14 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297260 - Homo sapiens isolate case 18 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297261 - Homo sapiens isolate case 19 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297262 - Homo sapiens isolate case 9 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297263 - Homo sapiens isolate case15 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297264 - Homo sapiens isolate case 2 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297265 - Homo sapiens isolate case 3 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297266 - Homo sapiens isolate case 4 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297267 - Homo sapiens isolate case 6 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297268 - Homo sapiens isolate case 7 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297269 - Homo sapiens isolate case 8 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU297270 - Homo sapiens isolate case 17 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU612120 - Homo sapiens isolate case 30 truncated glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KU641459 - Homo sapiens isolate case 22 glutaryl-CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419897 - Homo sapiens isolate 23 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419898 - Homo sapiens isolate 24 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419899 - Homo sapiens isolate 26 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419900 - Homo sapiens isolate 25 truncated glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419901 - Homo sapiens isolate 27 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419902 - Homo sapiens isolate 28 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419903 - Homo sapiens isolate 29 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419904 - Homo sapiens isolate 32 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419905 - Homo sapiens isolate 33 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419906 - Homo sapiens isolate 34 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419907 - Homo sapiens isolate 35 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419908 - Homo sapiens isolate 36 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419909 - Homo sapiens isolate 37 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419910 - Homo sapiens isolate 38 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419911 - Homo sapiens isolate 39 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419912 - Homo sapiens isolate 40 glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
KY419913 - Homo sapiens isolate 31 truncated glutaryl CoA dehydrogenase (GCDH) mRNA, complete cds.
AK298772 - Homo sapiens cDNA FLJ59956 complete cds, highly similar to Glutaryl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.7).
AK290407 - Homo sapiens cDNA FLJ76015 complete cds, highly similar to Homo sapiens glutaryl-Coenzyme A dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
AK098370 - Homo sapiens cDNA FLJ25504 fis, clone CBR04473, highly similar to GLUTARYL-COA DEHYDROGENASE PRECURSOR (EC 1.3.99.7).
AK296446 - Homo sapiens cDNA FLJ59559 complete cds, highly similar to Glutaryl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.7).
BC002579 - Homo sapiens glutaryl-Coenzyme A dehydrogenase, mRNA (cDNA clone MGC:1743 IMAGE:3142978), complete cds.
AK309892 - Homo sapiens cDNA, FLJ99933.
AK300841 - Homo sapiens cDNA FLJ60352 complete cds, highly similar to Glutaryl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.7).
U69141 - Human glutaryl-CoA dehydrogenase mRNA, complete cds.
JD187943 - Sequence 168967 from Patent EP1572962.
CU678052 - Synthetic construct Homo sapiens gateway clone IMAGE:100017268 5' read GCDH mRNA.
KJ891226 - Synthetic construct Homo sapiens clone ccsbBroadEn_00620 GCDH gene, encodes complete protein.
KR710603 - Synthetic construct Homo sapiens clone CCSBHm_00014533 GCDH (GCDH) mRNA, encodes complete protein.
KR710604 - Synthetic construct Homo sapiens clone CCSBHm_00014561 GCDH (GCDH) mRNA, encodes complete protein.
KR710605 - Synthetic construct Homo sapiens clone CCSBHm_00014584 GCDH (GCDH) mRNA, encodes complete protein.
KR710606 - Synthetic construct Homo sapiens clone CCSBHm_00014618 GCDH (GCDH) mRNA, encodes complete protein.
BT006706 - Homo sapiens glutaryl-Coenzyme A dehydrogenase mRNA, complete cds.
S77773 - Homo sapiens glutaryl CoA dehydrogenase (GCDH) mRNA, partial cds; mitochondrial gene for mitochondrial product.
JD026023 - Sequence 7047 from Patent EP1572962.
JD286403 - Sequence 267427 from Patent EP1572962.
JD506836 - Sequence 487860 from Patent EP1572962.
JD206333 - Sequence 187357 from Patent EP1572962.
JD330735 - Sequence 311759 from Patent EP1572962.
JD143600 - Sequence 124624 from Patent EP1572962.
JD054679 - Sequence 35703 from Patent EP1572962.
JD348057 - Sequence 329081 from Patent EP1572962.
JD081418 - Sequence 62442 from Patent EP1572962.
JD273075 - Sequence 254099 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5177 - glutaryl-CoA degradation
PWY66-401 - superpathway of L-tryptophan utilization
TRYPTOPHAN-DEGRADATION-1 - L-tryptophan degradation (kynurenine pathway)

Reactome (by CSHL, EBI, and GO)

Protein Q92947 (Reactome details) participates in the following event(s):

R-HSA-71046 glutaryl-CoA + FAD => crotonyl-CoA + FADH2 + CO2
R-HSA-71064 Lysine catabolism
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2Z2, ENST00000222214.1, ENST00000222214.2, ENST00000222214.3, ENST00000222214.4, ENST00000222214.5, ENST00000222214.6, ENST00000222214.7, ENST00000222214.8, ENST00000222214.9, GCDH_HUMAN, NR_102317, O14719, Q92947, uc317dds.1, uc317dds.2
UCSC ID: ENST00000222214.10_4
RefSeq Accession: NM_000159.4
Protein: Q92947 (aka GCDH_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GCDH:
dystonia-ov (Hereditary Dystonia Overview)
glutaric-a1 (Glutaric Acidemia Type I)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.