KEGG H.sapiens: 593

Homo sapiens (human): 593

Entry

593 CDS H.sapiens

Gene name BCKDHA

Definition branched chain keto acid dehydrogenase E1, alpha polypeptide
(EC:1.2.4.4)

Orthology K00166 2-oxoisovalerate dehydrogenase E1 component, alpha subunit
[EC:1.2.4.4]

Pathway hsa00280 Valine, leucine and isoleucine degradation
hsa01100 Metabolic pathways

Disease H00172 Maple syrup urine disease (MSUD)

Class Metabolism; Amino Acid Metabolism; Valine, leucine and isoleucine
degradation [PATH:hsa00280]

SSDB

Motif Pfam: E1_dh Transketolase_N TPP_enzyme_C

Other DBs NCBI-GI: 11386135
NCBI-GeneID: 593
OMIM: 608348
HGNC: 986
HPRD: 02009
Ensembl: ENSG00000142046
UniProt: P12694

Structure

PDB: 2BFD 2BFF 1X7Y 2BFC 2BFE 1X7Z 1X7W 2BFB
     2BEW 1U5B 1WCI 1OLS 2J9F 2BEU 1V11 1X80
     1X7X 1OLX 1DTW 2BEV 1V1R 1V1M 1V16 1OLU

Position 19q13.1-q13.2

AA seq 445 aa
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK

NT seq 1338 nt +upstreamnt +downstreamnt
atggcggtagcgatcgctgcagcgagggtctggcggctaaaccgtggtttgagccaggct
gccctcctgctgctgcggcagcctggggctcggggactggctagatctcacccccccagg
cagcagcagcagttttcatctctggatgacaagccccagttcccaggggcctcggcggag
tttatagataagttggaattcatccagcccaacgtcatctctggaatccccatctaccgc
gtcatggaccggcaaggccagatcatcaaccccagcgaggacccccacctgccgaaggag
aaggtgctgaagctctacaagagcatgacactgcttaacaccatggaccgcatcctctat
gagtctcagcggcagggccggatctccttctacatgaccaactatggtgaggagggcacg
cacgtggggagtgccgccgccctggacaacacggacctggtgtttggccagtaccgggag
gcaggtgtgctgatgtatcgggactaccccctggaactattcatggcccagtgctatggc
aacatcagtgacttgggcaaggggcgccagatgcctgtccactacggctgcaaggaacgc
cacttcgtcactatctcctctccactggccacgcagatccctcaggcggtgggggcggcg
tacgcagccaagcgggccaatgccaacagggtcgtcatctgttacttcggcgagggggca
gccagtgagggggacgcccatgccggcttcaacttcgctgccacacttgagtgccccatc
atcttcttctgccggaacaatggctacgccatctccacgcccacctctgagcagtatcgc
ggcgatggcattgcagcacgaggccccgggtatggcatcatgtcaatccgcgtggatggt
aatgatgtgtttgccgtatacaacgccacaaaggaggcccgacggcgggctgtggcagag
aaccagcccttcctcatcgaggccatgacctacaggatcgggcaccacagcaccagtgac
gacagttcagcgtaccgctcggtggatgaggtcaattactgggataaacaggaccacccc
atctcccggctgcggcactatctgctgagccaaggctggtgggatgaggagcaggagaag
gcctggaggaagcagtcccgcaggaaggtgatggaggcctttgagcaggccgagcggaag
cccaaacccaaccccaacctactcttctcagacgtgtatcaggagatgcccgcccagctc
cgcaagcagcaggagtctctggcccgccacctgcagacctacggggagcactacccactg
gatcacttcgataagtga

All links

Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (13)   
   UniProt (1)   
   RefSeq(pep) (2)   
   IPI (10)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
3D Structure (24)   
   PDB (24)   
Protein domain (3)   
   Pfam (3)   
All databases (70)

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