Reactome | GCDH [mitochondrial matrix]

GCDH [mitochondrial matrix]

Stable Identifier

R-HSA-71039

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

glutaryl-CoA dehydrogenase, Glutaryl-CoA dehydrogenase, mitochondrial

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
18775954	Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH) Keyser, B, Mühlhausen, C, Dickmanns, A, Christensen, E, Muschol, N, Ullrich, K, Braulke, T	Hum Mol Genet	2008

External Reference Information

External Reference

UniProt:Q92947 GCDH

Gene Names

GCDH

Chain

transit peptide:1-44, chain:45-438

Reference Genes

BioGPS Gene:2639 GCDH

COSMIC (genes):GCDH GCDH

CTD Gene:2639 GCDH

dbSNP Gene:2639 GCDH

ENSEMBL:ENSG00000105607 GCDH

HGNC:4189 GCDH

KEGG:hsa:2639 GCDH

Monarch:2639 GCDH

NCBI Gene:2639 GCDH

OMIM:608801 GCDH

UCSC:Q92947 GCDH

Reference Transcript

Other Identifiers

11742480_a_at

11756760_a_at

16858756

1749_at

203500_PM_at

203500_at

208369_PM_s_at

208369_s_at

2639

3200715

33314_at

3821996

3821997

3821998

3821999

3822000

3822001

3822002

3822003

3822004

3822005

3822007

3822008

3822009

3822010

3822011

3822012

3822013

3822014

3822015

3822016

3822017

3822018

3822019

3822020

3822021

3822022

3822023

3822024

3822025

3822026

3822027

3822028

3822029

3822030

3822031

3822032

3822033

3822034

3822035

3822036

3822039

3822041

4012811

48703_at

8026090

A_14_P126755

A_23_P90089

A_33_P3390873

GE62805

GO:0000062

GO:0003995

GO:0004361

GO:0005739

GO:0005759

GO:0006520

GO:0006568

GO:0006629

GO:0006637

GO:0006790

GO:0008289

GO:0016491

GO:0016627

GO:0019395

GO:0033539

GO:0046949

GO:0050660

GO:0055086

HMNXSV003012973

HMNXSV003025977

HMNXSV003037744

ILMN_1797482

ILMN_2296843

TC19000231.hg

U69141_at

g4503942_3p_a_at

Participates

as a component of

GCDH tetramer [mitochondrial matrix] (Homo sapiens)

Inferred To

GCDH [mitochondrial matrix] (Bos taurus)

GCDH [mitochondrial matrix] (Caenorhabditis elegans)

GCDH [mitochondrial matrix] (Canis familiaris)

GCDH [mitochondrial matrix] (Gallus gallus)

GCDH [mitochondrial matrix] (Sus scrofa)

gcdhb [mitochondrial matrix] (Danio rerio)

152078_at [mitochondrial matrix] (Drosophila melanogaster)

gcdh [mitochondrial matrix] (Dictyostelium discoideum)

gcdh [mitochondrial matrix] (Xenopus tropicalis)

Gcdh [mitochondrial matrix] (Mus musculus)

Gcdh [mitochondrial matrix] (Rattus norvegicus)

Cross References

RefSeq

NP_039663.1, NP_000150.1

ENSEMBL

ENST00000714074, ENSP00000466845, ENSP00000519364, ENSP00000222214, ENSP00000519365, ENST00000222214, ENST00000591470, ENST00000714073, ENSG00000105607

OpenTargets

ENSG00000105607

IntEnz

1.3.8.6

GeneCards

GCDH

HPA

ENSG00000105607-GCDH

PRO

Q92947

Pharos - Targets

Q92947

Orphanet

GCDH

HMDB Protein

HMDBP00202

PDB

1SIQ, 1SIR, 2R0M, 2R0N

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P29474 NOS3	9	2xPalmC-MyrG-NOS3 [plasma membrane] (R-HSA-534993) 2xPalmC-MyrG-NOS3 [Golgi membrane] (R-HSA-203769) MyrG-NOS3 [cytosol] (R-HSA-203687) MyrG-NOS3 [Golgi membrane] (R-HSA-534995) NOS3 [cytosol] (R-HSA-202114) 2xPalmC-MyrG-NOS3 [endocytic vesicle membrane] (R-HSA-535007) 2xPalmC-MyrG-p-S1177-NOS3 [plasma membrane] (R-HSA-202139) 2xPalmC-MyrG-p-S633-NOS3 [plasma membrane] (R-HSA-9861341) 2xPalmC-MyrG-p-S1177,S1179-NOS3 [plasma membrane] (R-HSA-9860783)	0.524	3
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279)	0.483	8

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