Reactome | T180A ECHS1 [mitochondrial matrix]

T180A ECHS1 [mitochondrial matrix]

Stable Identifier

R-HSA-9916687

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

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

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
29575569	Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency Fitzsimons, PE, Alston, CL, Bonnen, PE, Hughes, J, Crushell, E, Geraghty, MT, Tetreault, M, O'Reilly, P, Twomey, E, Sheikh, Y, Walsh, R, Waterham, HR, Ferdinandusse, S, Wanders, RJA, Taylor, RW, Pitt, JJ, Mayne, PD	Am J Med Genet A	2018
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]

A238V 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-threonine 180 replaced with L-alanine

Coordinate

180

PsiMod

L-alanine residue [MOD:00010]

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

L-threonine removal [MOD:01647]

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

Disease

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

Cross References

RefSeq

NP_004083.3

ClinGen

CA5765729

OpenTargets

ENSG00000127884

ENSEMBL

ENSG00000127884, ENST00000368547, ENSP00000357535

Mondo

0014563

PRO

P30084

GlyGen

P30084

PDB

8ZRU, 8ZRY, 8ZRW, 8ZRX, 8ZRV, 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) Stat3 [cytosol] (R-MMU-914084) p-Y705-Stat3 [cytosol] (R-MMU-914034) p(Y705)-Stat3 [nucleoplasm] (R-MMU-2730582) phospho-Stat3 [cytosol] (R-MMU-8983130) phospho-Stat3 [cytosol] (R-MMU-539048) phospho-Stat3 [nucleoplasm] (R-MMU-9701429) phospho-Stat3 [cytosol] (R-MMU-8982823) phospho-Stat3 [nucleoplasm] (R-MMU-9027589) 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,S727-STAT3 [cytosol] (R-HSA-539048) p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701429) p-STAT3 [cytosol] (R-HSA-8982823) p-Y705-STAT3 [nucleoplasm] (R-HSA-9027589) 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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