C225R ECHS1 [mitochondrial matrix]

Stable Identifier
R-HSA-9916672
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Enoyl-CoA hydratase, mitochondrial precursor , Short chain enoyl-CoA hydratase, Enoyl-CoA hydratase 1
C225R ECHS1 [mitochondrial matrix] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
26000322 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Jackson, CB, Murayama, K, Wieczorek, D, Bolognini, R, Haack, TB, Graf, E, Freisinger, P, Sperl, W, Schottmann, G, Kohda, M, Hasselmann, O, Ohtake, A, Eggimann, S, Wieland, T, Memari, Y, Schaller, A, Rodenburg, RJ, Trollmann, R, Kölker, S, Mayr, JA, Nuoffer, JM, Strom, TM, Prokisch, H, Kremer, LS, Klopstock, T, de Vries, MC, Zink, AM, Alston, CL, Albrecht, B, Tokuzawa, Y, Cremer, K, Hoffmann, GF, Büchner, B, Hahn, D, Durbin, R, Kotzaeridou, U, Santra, S, Sauer, S, Engels, H, Okazaki, Y, Kishita, Y, Schuelke, M, Taylor, RW, Meitinger, T, Kolb-Kokocinski, A

Ann Clin Transl Neurol 2015
External Reference Information
External Reference
Gene Names
ECHS1
Chain
transit peptide:1-27, chain:28-290
Reference Transcript
Other Identifiers
11757606_s_at
16719892
1892
201135_PM_at
201135_at
3315232
3315233
3315234
3315238
3315242
3315245
3315247
3315248
3315250
3315252
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:0016836
GO:0016853
GO:0043226
GO:0043956
GO:0120092
HMNXSV003046503
ILMN_1718132
PH_hs_0004410
TC10001790.hg
g12707569_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
L-cysteine 225 replaced with L-arginine
Coordinate
225
PsiMod
A protein modification that effectively removes or replaces an L-cysteine.
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Cross References
RefSeq
ClinGen
OpenTargets
GeneCards
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
HMDB Protein
Interactors (4)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q5S007 LRRK2  1 0.713 4
 UniProt:P11182 DBT  11 0.527 3
 UniProt:P42227 Stat3  13 0.524 3
 UniProt:P40763 STAT3  12 0.508 3
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