Reactome | A238V ECHS1 [mitochondrial matrix]

A238V ECHS1 [mitochondrial matrix]

Stable Identifier

R-HSA-9916686

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

Enoyl-CoA hydratase, mitochondrial precursor , Short chain enoyl-CoA hydratase, Enoyl-CoA hydratase 1

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Literature References

PubMed ID	Title	Journal	Year
26099313	Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome Tetreault, M, Fahiminiya, S, Antonicka, H, Mitchell, GA, Geraghty, MT, Lines, M, Boycott, KM, Shoubridge, EA, Mitchell, JJ, Care4Rare Canada Consortium, -, Michaud, JL, Majewski, J	Hum Genet	2015

External Reference Information

External Reference

UniProt:P30084 ECHS1

Gene Names

ECHS1

Chain

transit peptide:1-27, chain:28-290

Reference Genes

BioGPS Gene:1892 ECHS1

COSMIC (genes):ECHS1 ECHS1

CTD Gene:1892 ECHS1

dbSNP Gene:1892 ECHS1

ENSEMBL:ENSG00000127884 ECHS1

HGNC:3151 ECHS1

KEGG:hsa:1892 ECHS1

Monarch:1892 ECHS1

NCBI Gene:1892 ECHS1

OMIM:602292 ECHS1

UCSC:P30084 ECHS1

Reference Transcript

RefSeq:NM_004092.3 ECHS1

Other Identifiers

11757606_s_at

16719892

16719903

1892

201135_PM_at

201135_at

3315232

3315233

3315234

3315238

3315242

3315245

3315247

3315248

3315250

3315251

3315252

3315253

37016_at

7937217

A_23_P104362

D13900_at

GE548043

GO:0003824

GO:0004165

GO:0004300

GO:0005515

GO:0005739

GO:0005759

GO:0006520

GO:0006629

GO:0006631

GO:0006635

GO:0009083

GO:0016829

GO:0016853

GO:0018812

GO:0043956

GO:0120092

HMNXSV003032605

HMNXSV003046503

ILMN_1718132

PH_hs_0004410

TC10001790.hg

TC10001791.hg

g12707569_3p_at

Participates

as a candidate of

ECHS1 mutants [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

ECHS1 [mitochondrial matrix]

A2V ECHS1 [mitochondrial matrix]

T180A ECHS1 [mitochondrial matrix]

A132T ECHS1 [mitochondrial matrix]

G195S ECHS1 [mitochondrial matrix]

K273E ECHS1 [mitochondrial matrix]

R54H ECHS1 [mitochondrial matrix]

I66T ECHS1 [mitochondrial matrix]

D150G ECHS1 [mitochondrial matrix]

A158D ECHS1 [mitochondrial matrix]

C225R ECHS1 [mitochondrial matrix]

N59S ECHS1 [mitochondrial matrix]

A138V ECHS1 [mitochondrial matrix]

E77Q ECHS1 [mitochondrial matrix]

F33S ECHS1 [mitochondrial matrix]

Q159R ECHS1 [mitochondrial matrix]

Modified Residues

Name

L-alanine 238 replaced with L-valine

Coordinate

238

PsiMod

L-valine residue [MOD:00029]

A protein modification that effectively converts a source amino acid residue to an L-valine.

L-alanine removal [MOD:01631]

A protein modification that effectively removes or replaces an L-alanine.

Disease

Name	Identifier	Synonyms
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	DOID:0070540	ECHS1D

Cross References

RefSeq

NP_004083.3

ClinGen

CA5765678

OpenTargets

ENSG00000127884

ENSEMBL

ENST00000368547, ENSP00000357535, ENSG00000127884

Mondo

0014563

PRO

P30084

GlyGen

P30084

PDB

2HW5

GeneCards

ECHS1

HPA

ENSG00000127884-ECHS1

Pharos - Targets

P30084

Orphanet

ECHS1

HMDB Protein

HMDBP00388

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q5S007 LRRK2	1	LRRK2 [cytosol] (R-HSA-5661173)	0.713	4
UniProt:P11182 DBT	11	Lipo-K105-DBT [mitochondrial matrix] (R-HSA-70017) Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859151) Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859144) 2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859145) LipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859167) DBT [mitochondrial matrix] (R-HSA-6792584) P276C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865046) S399C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865036) K313_Y338del Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865051) I98M Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865057) DBT [cytosol] (R-HSA-9714663)	0.527	3
UniProt:P42227 Stat3	13	phospho-Stat3 [nucleoplasm] (R-MMU-1112554) phospho-Stat3 [cytosol] (R-MMU-914048) Stat3 [cytosol] (R-MMU-539044) phospho-Stat3 [cytosol] (R-MMU-8983130) Stat3 [cytosol] (R-MMU-914084) p-Y705-Stat3 [cytosol] (R-MMU-914034) p(Y705)-Stat3 [nucleoplasm] (R-MMU-2730582) phospho-Stat3 [nucleoplasm] (R-MMU-9027589) phospho-Stat3 [nucleoplasm] (R-MMU-9701429) phospho-Stat3 [cytosol] (R-MMU-8982823) phospho-Stat3 [cytosol] (R-MMU-539048) phospho-Stat3 [nucleoplasm] (R-MMU-9701435) phospho-Stat3 [nucleoplasm] (R-MMU-8983188)	0.524	3
UniProt:P40763 STAT3	12	p-Y705-STAT3 [nucleoplasm] (R-HSA-1112554) p-Y705-STAT3 [cytosol] (R-HSA-914048) STAT3 [cytosol] (R-HSA-539044) p-Y705-STAT3 [cytosol] (R-HSA-8983130) p-Y705-STAT3 [nucleoplasm] (R-HSA-9027589) p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701429) p-STAT3 [cytosol] (R-HSA-8982823) p-Y705,S727-STAT3 [cytosol] (R-HSA-539048) p-S727-STAT3 [cytosol] (R-HSA-198705) AcK685- p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701435) p-STAT3 [nucleoplasm] (R-HSA-8983188) Unfolded STAT3 [cytosol] (R-HSA-6813811)	0.508	3

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