Format

Send to:

Choose Destination

GCDH glutaryl-CoA dehydrogenase [ Homo sapiens (human) ]

Gene ID: 2639, updated on 3-May-2020

Summary

Official Symbol
GCDHprovided by HGNC
Official Full Name
glutaryl-CoA dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:4189
See related
Ensembl:ENSG00000105607 MIM:608801
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCD; ACAD5
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]
Expression
Ubiquitous expression in liver (RPKM 11.6), kidney (RPKM 10.0) and 25 other tissues See more
Orthologs

Genomic context

See GCDH in Genome Data Viewer
Location:
19p13.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12891129..12915345)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13001943..13010813)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 2, lysosomal Neighboring gene Kruppel like factor 1 Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene synaptonemal complex central element protein 2 Neighboring gene microRNA 5695 Neighboring gene phenylalanyl-tRNA synthetase subunit alpha Neighboring gene FARSA antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glutaric aciduria, type 1
MedGen: C0268595 OMIM: 231670 GeneReviews: Glutaric Acidemia Type I
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
glutaryl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutaryl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
glutaryl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
PubMed 
fatty-acyl-CoA biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
lysine catabolic process TAS
Traceable Author Statement
more info
 
tryptophan metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
glutaryl-CoA dehydrogenase, mitochondrial
Names
glutaryl-Coenzyme A dehydrogenase
truncated GCDH
truncated glutaryl-CoA dehydrogenase
NP_000150.1
NP_039663.1
XP_006722784.1
XP_011526201.1
XP_011526202.1
XP_016882069.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009292.1 RefSeqGene

    Range
    5001..13840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000159.4NP_000150.1  glutaryl-CoA dehydrogenase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_000150.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a, also known as the long isoform).
    Source sequence(s)
    AK290407, BM855466, U69141
    Consensus CDS
    CCDS12286.1
    UniProtKB/Swiss-Prot
    Q92947
    UniProtKB/TrEMBL
    A0A024R7F9
    Related
    ENSP00000222214.4, ENST00000222214.10
    Conserved Domains (1) summary
    cd01151
    Location:48434
    GCD; Glutaryl-CoA dehydrogenase
  2. NM_013976.4NP_039663.1  glutaryl-CoA dehydrogenase, mitochondrial isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment that results in a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (b, also known as the short isoform) has a distinct and shorter C-terminus, compared to isoform a. This variant lacks publicly available transcript support but is supported by data in PubMed ID:8541831.
    Source sequence(s)
    AK290407, BM855466, U69141
    UniProtKB/Swiss-Prot
    Q92947
    Conserved Domains (2) summary
    cd01151
    Location:48414
    GCD; Glutaryl-CoA dehydrogenase
    COG1960
    Location:60414
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RNA

  1. NR_102316.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon in the 5' region but contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296446, BM855466, DA286320, U69141
    Related
    ENST00000590530.5
  2. NR_102317.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an additional internal segment in the 5' region, and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK300841, BM855466, DA286320, U69141
    Related
    ENST00000585420.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12891129..12915345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527899.2XP_011526201.1  glutaryl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd01151
    Location:48415
    GCD; Glutaryl-CoA dehydrogenase
    COG1960
    Location:60415
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  2. XM_011527900.2XP_011526202.1  glutaryl-CoA dehydrogenase, mitochondrial isoform X2

    Conserved Domains (2) summary
    cd01151
    Location:48414
    GCD; Glutaryl-CoA dehydrogenase
    COG1960
    Location:60414
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  3. XM_006722721.2XP_006722784.1  glutaryl-CoA dehydrogenase, mitochondrial isoform X4

    Conserved Domains (2) summary
    cd01151
    Location:48414
    GCD; Glutaryl-CoA dehydrogenase
    COG1960
    Location:60414
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  4. XM_017026580.1XP_016882069.1  glutaryl-CoA dehydrogenase, mitochondrial isoform X3

    Conserved Domains (2) summary
    cd01151
    Location:48414
    GCD; Glutaryl-CoA dehydrogenase
    COG1960
    Location:60414
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
Support Center