KEGG H.sapiens: 594

Homo sapiens (human): 594

Entry

594 CDS H.sapiens

Gene name BCKDHB

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

Orthology K00167 2-oxoisovalerate dehydrogenase E1 component, beta 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: Transket_pyr Transketolase_C

Other DBs NCBI-GI: 4557353
NCBI-GeneID: 594
OMIM: 248611
HGNC: 987
HPRD: 02011
Ensembl: ENSG00000083123
UniProt: P21953 Q9BQL0

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 6q13-q15

AA seq 392 aa
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY

NT seq 1179 nt +upstreamnt +downstreamnt
atggcggttgtagcggcggctgccggctggctactcaggctcagggcggcaggggctgag
gggcactggcgtcggcttcctggcgcggggctggcgcggggctttttgcaccccgccgcg
actgtcgaggatgcggcccagaggcggcaggtggctcattttactttccagccagatccg
gagccccgggagtacgggcaaactcagaaaatgaatcttttccagtctgtaacaagtgcc
ttggataactcattggccaaagatcctactgcagtaatatttggtgaagatgttgccttt
ggtggagtctttagatgcactgttggcttgcgagacaaatatggaaaagatagagttttt
aataccccattgtgtgaacaaggaattgttggatttggaatcggaattgcggtcactgga
gctactgccattgcggaaattcagtttgcagattatattttccctgcatttgatcagatt
gttaatgaagctgccaagtatcgctatcgctctggggatctttttaactgtggaagcctc
actatccggtccccttggggctgtgttggtcatggggctctctatcattctcagagtcct
gaagcattttttgcccattgcccaggaatcaaggtggttatacccagaagccctttccag
gccaaaggacttcttttgtcatgcatagaggataaaaatccttgtatattttttgaacct
aaaatactttacagggcagcagcggaagaagtccctatagaaccatacaacatcccactg
tcccaggccgaagtcatacaggaagggagtgatgttactctagttgcctggggcactcag
gttcatgtgatccgagaggtagcttccatggcaaaagaaaagcttggagtgtcttgtgaa
gtcattgatctgaggactataataccttgggatgtggacacaatttgtaagtctgtgatc
aaaacagggcgactgctaatcagtcacgaggctcccttgacaggcggctttgcatcggaa
atcagctctacagttcaggaggaatgtttcttgaacctagaggctcctatatcaagagta
tgtggttatgacacaccatttcctcacatttttgaaccattctacatcccagacaaatgg
aagtgttatgatgcccttcgaaaaatgatcaactattga

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 (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (6)   
   UniProt (2)   
   RefSeq(pep) (2)   
   IPI (2)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
3D Structure (24)   
   PDB (24)   
Protein domain (2)   
   Pfam (2)   
All databases (65)

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