GCDH

GENERAL INFORMATION

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Gene name

GCDH

Gene description

Glutaryl-CoA dehydrogenase

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mitochondrial expression in most cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA043252 , HPA048492
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

GCDH (HGNC Symbol)

Synonyms

ACAD5

Description

Glutaryl-CoA dehydrogenase (HGNC Symbol)

Entrez gene 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]

Chromosome

19

Cytoband

p13.13

Chromosome location (bp)

12891026 - 12914207

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105607 (version 78.38)

Entrez gene

2639

UniProt

Q92947 (UniProt - Evidence at protein level)

neXtProt

NX_Q92947

Antibodypedia

GCDH antibodies


PROTEIN BROWSER

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ENST00000222214
 
ENST00000587072
 
ENST00000588905
 
ENST00000589039
 
ENST00000590472
 
ENST00000591050
 
ENST00000591470
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GCDH-001 ENSP00000222214
ENST00000222214
Q92947
Show all »
Show » Show » 438 48.1 No 0
GCDH-002 ENSP00000466845
ENST00000591470
Q92947
Show all »
Show » Show » 438 48.1 No 0
GCDH-008 ENSP00000465618
ENST00000589039
K7EKH1
Show all »
Show » Show » 148 16.7 No 0
GCDH-010 ENSP00000465770
ENST00000588905
K7EKT3
Show all »
Show » Show » 164 18.4 No 0
GCDH-012 ENSP00000468625
ENST00000590472
Show » Show » 115 12.6 No 0
GCDH-015 ENSP00000468584
ENST00000587072
K7ES74
Show all »
Show » Show » 131 14.5 No 0
GCDH-016 ENSP00000467735
ENST00000591050
Show » Show » 102 10.8 No 0