Details for: BCKDHB

Gene ID: 594

Symbol: BCKDHB

Ensembl ID: ENSG00000083123

Description: branched chain keto acid dehydrogenase E1 subunit beta

Associated with

Other Information

Genular Protein ID: 4259112584

Symbol: ODBB_HUMAN

Name: Branched-chain alpha-keto acid dehydrogenase E1 component beta chain

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2365818

Title: Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

PubMed ID: 2365818

DOI: 10.1172/jci114690

PubMed ID: 8651316

Title: Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.

PubMed ID: 8651316

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 2335211

Title: Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2335211

DOI: 10.1016/0014-5793(90)80215-5

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

DOI: 10.1016/0304-4165(94)90161-9

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

DOI: 10.1074/jbc.273.21.13110

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

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

DOI: 10.1016/s0969-2126(00)00105-2

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

DOI: 10.1016/0925-4439(93)90123-i

PubMed ID: 11509994

Title: Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PubMed ID: 11509994

DOI: 10.1086/323677

PubMed ID: 22326532

Title: Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).

PubMed ID: 22326532

DOI: 10.1016/j.gene.2012.01.082

Sequence Information:

  • Length: 392
  • Mass: 43122
  • Checksum: D78097834D063BB7
  • Sequence:
  • MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP 
    EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF 
    NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL 
    TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP 
    KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE 
    VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV 
    CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY

Genular Protein ID: 3357021263

Symbol: B4E2N3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 322
  • Mass: 35493
  • Checksum: CFB7DF596ED02A75
  • Sequence:
  • MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV 
    GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG 
    HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE 
    VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW 
    DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVLEECF LNLEAPISRV CGYDTPFPHI 
    FEPFYIPDKW KCYDALRKMI NY

Genular Protein ID: 66381409

Symbol: B7ZB80_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 322
  • Mass: 35508
  • Checksum: F4CEEF596ED031FF
  • Sequence:
  • MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV 
    GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG 
    HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE 
    VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW 
    DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV CGYDTPFPHI 
    FEPFYIPDKW KCYDALRKMI NY

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.