R183P BCKDHB [mitochondrial matrix]

Stable Identifier
R-HSA-9865041
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
branched chain keto acid dehydrogenase E1, beta polypeptide
Icon
R183P BCKDHB [mitochondrial matrix] icon
R183P BCKDHB [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
11509994 Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

Edelmann, L, Wasserstein, MP, Kornreich, R, Sansaricq, C, Snyderman, SE, Diaz, GA

Am J Hum Genet 2001
11448970 Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel

Wynn, RM, Chuang, JL, Sansaricq, C, Mandel, H, Chuang, DT

J Biol Chem 2001
External Reference Information
External Reference
UniProt:P21953 BCKDHB
Gene Names
BCKDHB
Chain
transit peptide:1-50, chain:51-392
Reference Genes
BioGPS Gene:594 BCKDHB
COSMIC (genes):BCKDHB BCKDHB
CTD Gene:594 BCKDHB
dbSNP Gene:594 BCKDHB
ENSEMBL:ENSG00000083123 BCKDHB
HGNC:987 BCKDHB
KEGG:hsa:594 BCKDHB
Monarch:594 BCKDHB
NCBI Gene:594 BCKDHB
OMIM:248611 BCKDHB
UCSC:P21953 BCKDHB
Reference Transcript
Other Identifiers
11723021_a_at
11723022_at
11723023_x_at
11724673_a_at
17010584
210653_PM_s_at
210653_s_at
213321_PM_at
213321_at
2914821
2914822
2914826
2914827
2914828
2914829
2914830
2914831
2914832
2914833
2914836
2914837
2914855
2914857
2914873
2914874
2914875
2914876
2914877
41682_s_at
41684_at
594
8120860
A_14_P110534
A_14_P128753
A_23_P93464
A_24_P914513
A_33_P3352873
GE79124
GO:0003863
GO:0005515
GO:0005654
GO:0005730
GO:0005739
GO:0005759
GO:0006520
GO:0006629
GO:0007584
GO:0009083
GO:0016491
GO:0120552
GO:0160157
HMNXSV003003913
HMNXSV003020268
Hs.1265.2.A1_3p_at
ILMN_1655433
ILMN_1764166
ILMN_2259949
ILMN_2390453
RNA147054|p0158_imsncRNA249
RNA147055|p0159_imsncRNA249
RNA147056|p0160_imsncRNA249
TC06000762.hg
U50708_at
g179361_3p_a_at
Participates
as a candidate of
Other forms of this molecule
BCKDHB [mitochondrial matrix]
p-S342-BCKDHB [mitochondrial matrix]
Q346R BCKDHB [mitochondrial matrix]
R170H BCKDHB [mitochondrial matrix]
G278S BCKDHB [mitochondrial matrix]
N176Y BCKDHB [mitochondrial matrix]
H206R BCKDHB [mitochondrial matrix]
Modified Residues
Name
L-arginine 183 replaced with L-proline
Coordinate
183
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
HPA
GeneCards
Pharos - Targets
Orphanet
HMDB Protein
Interactors (4)
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