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PDHB pyruvate dehydrogenase E1 subunit beta [ Homo sapiens (human) ]

Gene ID: 5162, updated on 7-Jun-2020

Summary

Official Symbol
PDHBprovided by HGNC
Official Full Name
pyruvate dehydrogenase E1 subunit betaprovided by HGNC
Primary source
HGNC:HGNC:8808
See related
Ensembl:ENSG00000168291 MIM:179060
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; PDHE1B; 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]
Expression
Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues See more
Orthologs

Genomic context

See PDHB in Genome Data Viewer
Location:
3p14.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58427630..58433852, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58413357..58419579, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribonuclease P/MRP subunit p14 Neighboring gene hydroxyacyl-thioester dehydratase type 2 Neighboring gene uncharacterized LOC105377106 Neighboring gene PX domain containing serine/threonine kinase like Neighboring gene uncharacterized LOC107986092 Neighboring gene potassium channel tetramerization domain containing 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify pyruvate dehydrogenase subunit beta (PDHB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify pyruvate dehydrogenase subunit beta (PDHB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify pyruvate dehydrogenase subunit beta (PDHB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify pyruvate dehydrogenase subunit beta (PDHB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564K0164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to pyruvate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acetyl-CoA biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetyl-CoA biosynthetic process from pyruvate IDA
Inferred from Direct Assay
more info
PubMed 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
mitochondrial acetyl-CoA biosynthetic process from pyruvate IC
Inferred by Curator
more info
PubMed 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial pyruvate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Names
epididymis secretory sperm binding protein
pyruvate dehydrogenase (lipoamide) beta
pyruvate dehydrogenase E1 beta subunit
pyruvate dehydrogenase, E1 beta polypeptide
NP_000916.2
NP_001166939.1
NP_001302465.1

NCBI Reference Sequences (RefSeq)

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_000925.4NP_000916.2  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000916.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC135507
    Consensus CDS
    CCDS2890.1
    UniProtKB/Swiss-Prot
    P11177
    Related
    ENSP00000307241.6, ENST00000302746.11
    Conserved Domains (1) summary
    cl27364
    Location:32355
    Transketolase_C; Transketolase, C-terminal domain
  2. NM_001173468.1NP_001166939.1  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000417267.1, ENST00000485460.5
    Conserved Domains (1) summary
    cl27364
    Location:32337
    Transketolase_C; Transketolase, C-terminal domain
  3. NM_001315536.1NP_001302465.1  pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL117618, BQ477366, DA965753
    Consensus CDS
    CCDS82795.1
    UniProtKB/Swiss-Prot
    P11177
    Related
    ENSP00000373220.4, ENST00000383714.8
    Conserved Domains (1) summary
    cl27364
    Location:11337
    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
    Related
    ENST00000461692.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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