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BCKDHB branched chain keto acid dehydrogenase E1 subunit beta [ Sus scrofa (pig) ]

Gene ID: 100142669, updated on 17-Aug-2024

Summary

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Official Symbol
BCKDHBprovided by VGNC
Official Full Name
branched chain keto acid dehydrogenase E1 subunit betaprovided by VGNC
Primary source
VGNC:VGNC:85777
See related
Ensembl:ENSSSCG00000004465
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Sus scrofa
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
Expression
Ubiquitous expression in liver (RPKM 38.0), kidney (RPKM 36.6) and 8 other tissues See more
Orthologs
human mouse all
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Genomic context

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See BCKDHB in Genome Data Viewer
Location:
chromosome: 1
Exon count:
11
Annotation release Status Assembly Chr Location
106 current Sscrofa11.1 (GCF_000003025.6) 1 NC_010443.5 (85755819..86017661, complement)
105 previous assembly Sscrofa10.2 (GCF_000003025.5) 1 NC_010443.4 (96353433..96716539, complement)

Chromosome 1 - NC_010443.5Genomic Context describing neighboring genes Neighboring gene terminal nucleotidyltransferase 5A Neighboring gene uncharacterized LOC110260709 Neighboring gene serine/threonine-protein kinase 17A pseudogene Neighboring gene TTK protein kinase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Transcriptome data used for gene annotation Transcriptome data used for gene annotation
  • Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
  • BioProject: PRJNA311523
  • Publication: PMID 27646534
  • Analysis date: Thu Dec 14 17:10:49 2017

Bibliography

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Related articles in PubMed

  1. Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes: NCF2, BCKDHB and BCKDHA. Liu GY. J Appl Genet, 2009. PMID 19193982
  2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. analysis of NCF2, BCKDHB and BCKDHA in pig
    Title: Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes: NCF2, BCKDHB and BCKDHA.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in branched-chain amino acid catabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Names
branched chain keto acid dehydrogenase E1 beta polypeptide
branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
NP_001116691.1
XP_020938559.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001123219.1 → NP_001116691.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

    See identical proteins and their annotated locations for NP_001116691.1

    Status: PROVISIONAL

    Source sequence(s)
    EU442568
    UniProtKB/TrEMBL
    A0A8D0TZN9, B1PK11
    Related
    ENSSSCP00000069136.2, ENSSSCT00000075996.2
    Conserved Domains (3) summary
    cd07036
    Location:79 → 245
    TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
    PTZ00182
    Location:70 → 394
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:266 → 385
    Transketolase_C; Transketolase, C-terminal domain

RefSeqs of Annotated Genomes: Sus scrofa Annotation Release 106 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference Sscrofa11.1 Primary Assembly

Genomic

  1. NC_010443.5 Reference Sscrofa11.1 Primary Assembly

    Range
    85755819..86017661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021082900.1 → XP_020938559.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A4X1V4D8, A0A8D0TZN9, F1RQL3
    Related
    ENSSSCP00000004815.5, ENSSSCT00000004932.5
    Conserved Domains (1) summary
    PTZ00182
    Location:70 → 394
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
Nucleotide Protein
Heading Accession and Version

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