T310R BCKDHA [mitochondrial matrix]

Stable Identifier
R-HSA-9865052
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
branched chain keto acid dehydrogenase E1, alpha polypeptide
Icon
T310R BCKDHA [mitochondrial matrix] icon
T310R BCKDHA [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
9582350 Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease

Cote, CD, Davie, JR, Wynn, RM, Chuang, JL, Chuang, DT

J Biol Chem 1998
10745006 Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.

Hol, WG, Turley, S, Chuang, DT, Chuang, JL, Wynn, RM, Aevarsson, A

Structure Fold Des 2000
External Reference Information
External Reference
UniProt:P12694 BCKDHA
Gene Names
BCKDHA
Chain
transit peptide:1-45, chain:46-445
Reference Genes
BioGPS Gene:593 BCKDHA
COSMIC (genes):BCKDHA BCKDHA
CTD Gene:593 BCKDHA
dbSNP Gene:593 BCKDHA
ENSEMBL:ENSG00000248098 BCKDHA
HGNC:986 BCKDHA
KEGG:hsa:593 BCKDHA
Monarch:593 BCKDHA
NCBI Gene:593 BCKDHA
OMIM:608348 BCKDHA
UCSC:P12694 BCKDHA
Reference Transcript
Other Identifiers
11733731_s_at
16862504
202331_PM_at
202331_at
37704_at
3834206
3834209
3834210
3834211
3834212
3834213
3834215
3834217
3834218
3834219
3834220
3834221
3834222
3834223
3834224
3834225
3834226
593
8029065
A_23_P67188
A_33_P3302305
GE60352
GO:0003824
GO:0003863
GO:0005515
GO:0005739
GO:0005759
GO:0006520
GO:0009083
GO:0016491
GO:0016624
GO:0016829
GO:0016831
GO:0043226
GO:0045252
GO:0046872
GO:0047101
GO:0160157
HMNXSV003002234
ILMN_1735979
PH_hs_0020110
PH_hs_0040098
TC19002636.hg
Z14093_at
g11386134_3p_at
Participates
as a member of
Other forms of this molecule
BCKDHA [mitochondrial matrix]
Y438N BCKDHA [mitochondrial matrix]
A285P BCKDHA [mitochondrial matrix]
G290R BCKDHA [mitochondrial matrix]
G249S BCKDHA [mitochondrial matrix]
Y413C BCKDHA [mitochondrial matrix]
Modified Residues
Name
L-threonine 310 replaced with L-arginine
Coordinate
310
PsiMod
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
HPA
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P06746 POLB  2 0.527 2
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