ONGene
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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

594

Name

BCKDHB

Synonym

E1B|dJ279A18.1;branched chain keto acid dehydrogenase E1, beta polypeptide;BCKDHB;branched chain keto acid dehydrogenase E1, beta polypeptide

Definition

2-oxoisovalerate dehydrogenase beta subunit|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|BCKDE1B|BCKDH E1-beta|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched-chain alpha-ke

Position

6q14.1

Gene Type

protein-coding

Pathways and Diseases

Pathway

Valine, leucine and isoleucine degradation;KEGG PATHWAY;hsa00280

Pathway

valine degradation I;BioCyc;VALDEG-PWY

Pathway

Metabolism of amino acids and derivatives;Reactome;REACT:13

Pathway

2-oxobutanoate degradation I;BioCyc;PWY-5130

Pathway

Metabolic pathways;KEGG PATHWAY;hsa01100

Pathway

isoleucine degradation I;BioCyc;ILEUDEG-PWY

Pathway

branched-chain alpha-keto acid dehydrogenase complex;BioCyc;PWY-5046

Pathway

superpathway of methionine degradation;BioCyc;PWY-5328

Disease

Ovarian failure;FunDO

Disease

Encephalopathies;FunDO

Disease

Genetic disorders;KEGG DISEASE

Disease

Maple syrup urine disease, type Ib;OMIM

Disease

Inherited disorders of amino acid metabolism;KEGG DISEASE

Disease

Maple syrup urine disease;KEGG DISEASE;H00172

External Links

Links to cell senescence gene database

594

Links to epithelial mesenchymal transition gene database

594

Links to ovarian cancer gene database

594

Links to endometrial cancer gene database

594

Links to iHOP

594

Sequence Information

Nucleotide Sequence

>594 : length: 3712
GGGTGCTCCGCCCTCCCCGCAGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTG
AGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGG
GGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCC
CGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCC
AGATCCGGAGCCCCGGGAGTACGGGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAAC
AAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATATTTGGTGAAGATGT
TGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAG
AGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGT
CACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGA
TCAGATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGG
AAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCA
GAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAGGTGGTTATACCCAGAAGCCC
TTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTT
TGAACCTAAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAACCATACAACAT
CCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGG
CACTCAGGTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTC
TTGTGAAGTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAGTC
TGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGC
ATCGGAAATCAGCTCTACAGTTCAGGAGGAATGTTTCTTGAACCTAGAGGCTCCTATATC
AAGAGTATGTGGTTATGACACACCATTTCCTCACATTTTTGAACCATTCTACATCCCAGA
CAAATGGAAGTGTTATGATGCCCTTCGAAAAATGATCAACTATTGACCATATAGGTAGGT
ATGCATCTTGAGAAAGCTACTATGTGCCCCTGACATTAACGTACTGTTAACCAAGACACA
GCAATCATCAGTGTTTTGATGGTAACAAACTTTGATGGTAAAGTTGGTAAAAGGCAACTT
TCAGAAGAAAATAATGTGCTTTAGAAAAAAAATTCAAATTTATAGTAGTATATTTACATT
TTTGTTGTTGTTGTTGTTCTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGACTGCAGT
GGTGCAATCTCAGCTCACTGCAACCTCCCCCCTACCCCTGAGTTCAAGCGATTCTCCTGC
CTCAGCCTGCTGAGTAGTTGGGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTTGT
GTTTTTATTGGAGGTGGGGTGTCACTATGTTGGCTCAGCTGATTTCAAATTCCTGACCTC
AAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCAC
CTGGCTATATTTACATTTAATAGAAACATATCTAGCATATGTATATGTGATTTTTTTTTT
TTTTTTGAGACCGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTTGGCT
CATGGCAACCTCTGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGTCTCCTGAGTAGCT
GGGACTACAGGTGTGCACCAACATGCCCAGCTAATTTTTTATATTTTTAGTAGAGACGGG
GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGTTCCACCCGCCTTGG
CCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGCGCCTGGCCTGTATATGTGATTT
CTAAAAAATAGATGCATGCATATGTTAACATTGAATAGTCAATCACTAGATGAAGATGCT
CTCTACCATGGTTTAGATTGCAAGTGTACTTTATACCATTGTTTCAACTTCAACCTTTAT
TTTTGTATATATTTTTTCAGCTACTTAAACTGTTCATGAATAGGCGTACTTTCTGTATTT
AAAAATGGCCCCTCAAGCACCGTTAATTTACATTCCAGTTATTTACATGATAATTCATGA
CATTCTGAAACTTGCCTGTATATTATCTGAAAAATGGATTTCTTGAGCAAAAGATCTGTT
TATTGTATGTAAGGAAAAATTTTACCTGAAAACAAACAAACAAACCCTAAAACTCAGCAC
CACTACCATTTCCAGAAGCTTTTTTAACAAGTGAATATTTTTTACATAATGGATAATAAA
TGGTATTTATTCATCATGATTTTCTAAGTAATGCTTATCAGCCCCTTCAGTGGTGTTATT
CTAACAAAATGAATACATTACAAATTATTAAGTTAGCTTTTCAGAGTTTTAATATAGAAG
TTACTAGCACTGACACACTGATTTTGAAATGTTTCAAAATGAGTAGATATGATTAGATCC
TTTACCTTTTAATATCTAGTTTTTCCAAAAATGATAGTAATATCTTTTGAAGAACTATGC
TTTTTCAAAAGCAAAATCAACTCTGTATAATAGCACATTCTCTACTTTTTAAAGATCAGA
AATGCTAGAATTCTTGACTTTTGTGTATGGGTAGTAAATCTAGCTCACTGAAAATCAGAG
TGAAACGCCTTTACATTTGTGCGGATAGAGAAGTTAACTCTCCCTCATATGTCACTGTGC
TACCATAATCCCTACATTTTCTGTCTGTTCTAGTCTAAGAATATTGTTATAGATGGAAGT
TAGGACCATTAGCCCACAGATGCATGTATTCTCTCAGACATACCGGTGTAGATGCTATAT
TTCTGATGTCTTCTTAATGTCTGTGAAAGCAACTGGCATCTACAATAAATCACACTTAGA
GCTGGTTAGAGGACTCCTTCACTTTTGTTGTCCATGTGGTTCCCTTCCGTGGACCAGCCG
TAATAAAGAGCCAAGGTAGTGATGGTGGCCACGTGCCTCGTTGCTATTTTTAAAGTAATA
TTCAGATGTGGTTTTAAATTTAGATTATGTATTCCTTTTGAAACATAAGAAAAACATTTA
AACCTATGCTGAAAATACGATAAAAGAAAAACAACTCCAATATGCTAAAAGTTAAATATG
GTATTTAAGAAAATAGTCATGTATGCAATTGAGAAAGTCTATAATTTATTTTACAGAAAA
GCTGGAAGATTATGACTAGATATGGAAATATTTTTTCTGAATTTTTTTTTATATTTCCTC
CGACTTACCTCTTTTTGAAAAGAGAGTTTTTATTAAGTGAACCATCACGATATTGGCTGA
AAAGTTCTACATTCTATTATTGTATTGTAACACACATGTATTGATGATTTTCATTAAGAG
TTTCAGATTAACTTTGAAAAATATTCCACATGGTAATCTTATAAATTCTGTTTAATTACA
TCTGTAAATATTATGTGTGTGATAGTATTCAATAAAGTAAAATCAAATTGTC

Protein Sequence

>594 : length: 392
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY