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

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; AllianceGenome:HGNC:4189
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12891129..12899999)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13015581..13024452)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13001943..13010813)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma.
Title: Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma.
Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
Title: Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Title: Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.
Title: Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Title: Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Title: The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Title: Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Title: Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Title: Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Homozygous pathogenic missense variant in GCDH gene is associated with glutaric aciduria, type I.
Title: Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glutaric aciduria, type 1 MedGen: C0268595 OMIM: 231670 GeneReviews: Glutaric Acidemia Type I	not available

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-24430 (e-PCR)
- UniSTS:67589

D19S1133 (e-PCR)
- UniSTS:27399

RH44737 (e-PCR)
- UniSTS:10263

GDB:568756 (e-PCR)
- UniSTS:157751

GDB:568776 (e-PCR)
- UniSTS:157752

GDB:568779 (e-PCR)
- UniSTS:157753

GDB:568782 (e-PCR)
- UniSTS:157754

WI-17002 (e-PCR)
- UniSTS:68425

GDB:362952 (e-PCR)
- UniSTS:156769

RH17829 (e-PCR)
- UniSTS:8300

RH99313 (e-PCR)
- UniSTS:89040

G49216 (e-PCR)
- UniSTS:140786

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty-acyl-CoA binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables glutaryl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutaryl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty-acyl-CoA biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tryptophan metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: glutaryl-CoA dehydrogenase, mitochondrial

Names: glutaryl-Coenzyme A dehydrogenase

NP_000150.1

EC 1.3.8.6

NP_039663.1

EC 1.3.8.6

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_009292.1 RefSeqGene

Range

5001..13840

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000159.4 → NP_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

A8K2Z2, O14719, Q92947

UniProtKB/TrEMBL

A0A1L3A5U7, A0A2H4FWZ7, A0A2H4FX55, A0A2H4FX57, A0A2H4FX70, A0A2H4FX81, A0A2H4G0V0, A0A2H4G1S8, A0A2H4G235, A0A2H4G245, A0A2L2DH10, A0A2L2DH19, A0A2L2DH21, A0A2L2DH25, A0A2L2DH39

Related

ENSP00000222214.4, ENST00000222214.10

Conserved Domains (1) summary

cd01151
Location:48 → 434

GCD; Glutaryl-CoA dehydrogenase
NM_013976.5 → NP_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, U69141

UniProtKB/TrEMBL

K7ESA6

Related

ENSP00000519364.1, ENST00000714073.1

Conserved Domains (2) summary

cd01151
Location:48 → 414

GCD; Glutaryl-CoA dehydrogenase

COG1960
Location:60 → 414

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RNA

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
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