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| # | Reference Title | Reference Citation |
| 1. | Regulation of gene expression of branched-chain keto acid dehydrogenase complex in primary cultured hepatocytes by dexamethasone and a cAMP analog. | Chicco AG, etal., J Biol Chem. 1994 Jul 29;269(30):19427-34. |
| 2. | Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. | Chuang JL, etal., Am J Hum Genet 1994 Aug;55(2):297-304. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 5. | Posttranscriptional alterations in protein masses of hepatic branched-chain keto acid dehydrogenase and its associated kinase in diabetes. | Lombardo YB, etal., Proc Assoc Am Physicians. 1998 Jan-Feb;110(1):40-9. |
| 6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 9. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 10. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 11. | GOA pipeline | RGD automated data pipeline |
| 12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 14. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 15. | Purification of branched chain alpha-ketoacid dehydrogenase complex from rat liver. | Shimomura Y, etal., Anal Biochem. 1987 May 15;163(1):74-8. |
| 16. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 17. | Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase. | Zhang B, etal., J Biol Chem 1987 Nov 5;262(31):15220-4. |
| 18. | Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. | Zhang B, etal., Mol Biol Med 1991 Feb;8(1):39-47. |
| 19. | Effect of dietary protein on the liver content and subunit composition of the branched-chain alpha-ketoacid dehydrogenase complex. | Zhao Y, etal., Arch Biochem Biophys. 1994 Feb 1;308(2):446-53. |
| PMID:7883996 | PMID:12477932 | PMID:14651853 | PMID:16396499 | PMID:18614015 | PMID:20833797 | PMID:24625528 | PMID:25193403 | PMID:26035971 | PMID:26316108 | PMID:29476059 | PMID:34800366 |
| PMID:36802195 |
| Bckdha (Rattus norvegicus - Norway rat) |
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| BCKDHA (Homo sapiens - human) |
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| Bckdha (Mus musculus - house mouse) |
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| Bckdha (Chinchilla lanigera - long-tailed chinchilla) |
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| BCKDHA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BCKDHA (Canis lupus familiaris - dog) |
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| Bckdha (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BCKDHA (Sus scrofa - pig) |
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| BCKDHA (Chlorocebus sabaeus - green monkey) |
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| Bckdha (Heterocephalus glaber - naked mole-rat) |
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| Bckdha (Rattus rattus - black rat) |
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.
Variants in Bckdha
205 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D1Rat97 |
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| D1Bda6 |
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| BE119497 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 142 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_012782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017588814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039101525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063281522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC134759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC089915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC161819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB579195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| J02827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000027995 ⟹ ENSRNOP00000027995 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000095163 ⟹ ENSRNOP00000087713 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000139513 ⟹ ENSRNOP00000105536 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000151777 ⟹ ENSRNOP00000109641 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_012782 ⟹ NP_036914 | ||||||||||||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_017588814 ⟹ XP_017444303 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039101525 ⟹ XP_038957453 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063281522 ⟹ XP_063137592 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_036914 | (Get FASTA) | NCBI Sequence Viewer |
| XP_017444303 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038957453 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063137592 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA40811 | (Get FASTA) | NCBI Sequence Viewer |
| AAH89915 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI61819 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM08010 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM08011 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000109641 | ||
| GenBank Protein | P11960 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_036914 ⟸ NM_012782 |
| - UniProtKB: | P11960 (UniProtKB/Swiss-Prot), B1WBN3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017444303 ⟸ XM_017588814 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6J973 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000027995 ⟸ ENSRNOT00000027995 |
| RefSeq Acc Id: | XP_038957453 ⟸ XM_039101525 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | P11960 (UniProtKB/Swiss-Prot) |
| Ensembl Acc Id: | ENSRNOP00000087713 ⟸ ENSRNOT00000095163 |
| RefSeq Acc Id: | XP_063137592 ⟸ XM_063281522 |
| - Peptide Label: | isoform X3 |
| Ensembl Acc Id: | ENSRNOP00000109641 ⟸ ENSRNOT00000151777 |
| Ensembl Acc Id: | ENSRNOP00000105536 ⟸ ENSRNOT00000139513 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P11960-F1-model_v2 | AlphaFold | P11960 | 1-441 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:2196 | AgrOrtholog |
| BioCyc Gene | G2FUF-60375 | BioCyc |
| BioCyc Pathway | ILEUDEG-PWY [L-isoleucine degradation I] | BioCyc |
| LEU-DEG2-PWY [L-leucine degradation I] | BioCyc | |
| PWY-5046 [2-oxoisovalerate decarboxylation to isobutanoyl-CoA] | BioCyc | |
| PWY-5130 [2-oxobutanoate degradation I] | BioCyc | |
| PWY66-428 [L-threonine degradation V] | BioCyc | |
| VALDEG-PWY [L-valine degradation I] | BioCyc | |
| BioCyc Pathway Image | ILEUDEG-PWY | BioCyc |
| LEU-DEG2-PWY | BioCyc | |
| PWY-5046 | BioCyc | |
| PWY-5130 | BioCyc | |
| PWY66-428 | BioCyc | |
| VALDEG-PWY | BioCyc | |
| Ensembl Genes | ENSRNOG00000020607 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000151777 | ENTREZGENE |
| Gene3D-CATH | 3.40.50.970 | UniProtKB/Swiss-Prot |
| IMAGE_CLONE | IMAGE:7305384 | IMAGE-MGC_LOAD |
| IMAGE:9099948 | IMAGE-MGC_LOAD | |
| InterPro | Alpha-ketoacid_DH_E1_comp | UniProtKB/Swiss-Prot |
| DH_E1 | UniProtKB/Swiss-Prot | |
| THDP-binding | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:25244 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:109190 | IMAGE-MGC_LOAD |
| MGC:187269 | IMAGE-MGC_LOAD | |
| NCBI Gene | 25244 | ENTREZGENE |
| PANTHER | 2-OXOISOVALERATE DEHYDROGENASE SUBUNIT ALPHA, MITOCHONDRIAL | UniProtKB/Swiss-Prot |
| PTHR43380:SF1 | UniProtKB/Swiss-Prot | |
| Pfam | E1_dh | UniProtKB/Swiss-Prot |
| PhenoGen | Bckdha | PhenoGen |
| RatGTEx | ENSRNOG00000020607 | RatGTEx |
| Superfamily-SCOP | SSF52518 | UniProtKB/Swiss-Prot |
| TIGR | TC218941 | |
| UniProt | A0A8I6GGA5_RAT | UniProtKB/TrEMBL |
| A0ABK0LFS2_RAT | UniProtKB/TrEMBL | |
| A0ABK0LL10_RAT | UniProtKB/TrEMBL | |
| A6J973 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6J974_RAT | UniProtKB/TrEMBL | |
| B1WBN3 | ENTREZGENE, UniProtKB/TrEMBL | |
| F7EV94_RAT | UniProtKB/TrEMBL | |
| ODBA_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q5EB89_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-05-09 | Bckdha | branched chain keto acid dehydrogenase E1 subunit alpha | Bckdha | branched chain ketoacid dehydrogenase E1, alpha polypeptide | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2004-09-10 | Bckdha | branched chain ketoacid dehydrogenase E1, alpha polypeptide | branched chain keto acid dehydrogenase subunit E1, alpha polypeptide | Name updated | 1299863 | APPROVED | |
| 2003-04-09 | Bckdha | branched chain keto acid dehydrogenase subunit E1, alpha polypeptide | Branched chain alpha-ketoacid dehydrogenase subunit E1 alpha | Name updated | 629478 | APPROVED | |
| 2002-06-10 | Bckdha | Branched chain alpha-ketoacid dehydrogenase subunit E1 alpha | Symbol and Name status set to approved | 70586 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_expression | expressed in liver and muscle | 631719 |
| gene_function | dehydrogenase | 631719 |
| gene_protein | 18.0 kb | 631719 |