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PDHB pyruvate dehydrogenase (lipoamide) beta [ Homo sapiens (human) ]

Gene ID: 5162, updated on 17-Apr-2014
Official Symbol
PDHBprovided by HGNC
Official Full Name
pyruvate dehydrogenase (lipoamide) betaprovided by HGNC
Primary source
HGNC:8808
See related
Ensembl:ENSG00000168291; HPRD:01530; MIM:179060; Vega:OTTHUMG00000159157
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDHBD; PHE1B; PDHE1-B
Summary
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
Location :
3p21.1-p14.2
Sequence :
Chromosome: 3; NC_000003.12 (58427630..58433852, complement)
See PDHB in Epigenomics, MapViewer

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribonuclease P/MRP 14kDa subunit Neighboring gene PX domain containing serine/threonine kinase Neighboring gene uncharacterized LOC101929223 Neighboring gene potassium channel tetramerization domain containing 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) activity IEA
Inferred from Electronic Annotation
more info
 
pyruvate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acetyl-CoA biosynthetic process from pyruvate IDA
Inferred from Direct Assay
more info
PubMed 
cellular metabolic process TAS
Traceable Author Statement
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tricarboxylic acid cycle IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Names
pyruvate dehydrogenase E1 component subunit beta, mitochondrial
pyruvate dehydrogenase, E1 beta polypeptide
NP_000916.2
NP_001166939.1

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.

Genomic

  1. NG_016860.1 RefSeqGene

    Range
    5001..11223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000925.3NP_000916.2  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor

    See proteins identical to NP_000916.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK225569, AK293153, BM971427, DA965753
    Consensus CDS
    CCDS2890.1
    UniProtKB/Swiss-Prot
    P11177
    Related
    ENSP00000307241, OTTHUMP00000214202, ENST00000302746, OTTHUMT00000353558
    Conserved Domains (3) summary
    cd07036
    Location:37203
    Blast Score: 815
    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
    PLN02683
    Location:6356
    Blast Score: 1427
    PLN02683; pyruvate dehydrogenase E1 component subunit beta
    pfam02780
    Location:226348
    Blast Score: 370
    Transketolase_C; Transketolase, C-terminal domain
  2. NM_001173468.1NP_001166939.1  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor

    See proteins identical to NP_001166939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK293153, BM971427, DA965753
    Consensus CDS
    CCDS54602.1
    UniProtKB/Swiss-Prot
    P11177
    Related
    ENSP00000417267, OTTHUMP00000214203, ENST00000485460, OTTHUMT00000353562
    Conserved Domains (3) summary
    cd07036
    Location:37185
    Blast Score: 717
    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
    PLN02683
    Location:6338
    Blast Score: 1323
    PLN02683; pyruvate dehydrogenase E1 component subunit beta
    pfam02780
    Location:208330
    Blast Score: 370
    Transketolase_C; Transketolase, C-terminal domain

RNA

  1. NR_033384.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is alternatively spliced at the 5' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK225569, AK293153, BM971427, DB039833

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38 Primary Assembly

    Range
    58427630..58433852, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 Alternate HuRef

    Range
    58509470..58515692, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    58363623..58369848, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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