Details for: BCKDHA
Associated with
Other Information
Genular Protein ID: 1030522781
Symbol: ODBA_HUMAN
Name: Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1420356
Title: Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.
PubMed ID: 1420356
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15057824
Title: The DNA sequence and biology of human chromosome 19.
PubMed ID: 15057824
DOI: 10.1038/nature02399
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2914958
Title: Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
PubMed ID: 2914958
PubMed ID: 2060625
Title: Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
PubMed ID: 2060625
PubMed ID: 1682165
PubMed ID: 3224821
Title: Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.
PubMed ID: 3224821
PubMed ID: 7918575
Title: Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.
PubMed ID: 7918575
PubMed ID: 19411760
Title: Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.
PubMed ID: 19411760
DOI: 10.1172/jci38151
PubMed ID: 22589535
Title: Tissue-specific and nutrient regulation of the branched-chain alpha-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).
PubMed ID: 22589535
PubMed ID: 10745006
Title: Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
PubMed ID: 10745006
PubMed ID: 8037208
Title: 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.
PubMed ID: 8037208
PubMed ID: 2703538
Title: Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
PubMed ID: 2703538
DOI: 10.1172/jci114033
PubMed ID: 2241958
Title: A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
PubMed ID: 2241958
PubMed ID: 1867199
Title: Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
PubMed ID: 1867199
PubMed ID: 1885764
Title: Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
PubMed ID: 1885764
DOI: 10.1172/jci115363
PubMed ID: 8161368
Title: Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
PubMed ID: 8161368
PubMed ID: 7883996
Title: Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients.
PubMed ID: 7883996
DOI: 10.1172/jci117804
PubMed ID: 9582350
Title: Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
PubMed ID: 9582350
PubMed ID: 21844576
Title: Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
PubMed ID: 21844576
Sequence Information:
- Length: 445
- Mass: 50471
- Checksum: 2B4DD658924DB0C3
- Sequence:
MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL RKQQESLARH LQTYGEHYPL DHFDK
Genular Protein ID: 1639317202
Symbol: Q59EI3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 444
- Mass: 50400
- Checksum: C5A54AFF6AB9BF87
- Sequence:
MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIARGPGY GIMSIRVDGN DVFAVYNATK EARRRAVAEN QPFLIEAMTY RIGHHSTSDD SSAYRSVDEV NYWDKQDHPI SRLRHYLLSQ GWWDEEQEKA WRKQSRRKVM EAFEQAERKP KPNPNLLFSD VYQEMPAQLR KQQESLARHL QTYGEHYPLD HFDK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.