| 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 |