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PDK3 pyruvate dehydrogenase kinase 3 [ Homo sapiens (human) ]

Gene ID: 5165, updated on 21-Dec-2019

Summary

Official Symbol
PDK3provided by HGNC
Official Full Name
pyruvate dehydrogenase kinase 3provided by HGNC
Primary source
HGNC:HGNC:8811
See related
Ensembl:ENSG00000067992 MIM:300906
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
CMTX6; GS1-358P8.4
Summary
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in brain (RPKM 5.9), testis (RPKM 4.2) and 25 other tissues See more
Orthologs

Genomic context

See PDK3 in Genome Data Viewer
Location:
Xp22.11
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (24465227..24550466)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (24483344..24568583)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SUPT20H like 1 Neighboring gene ribosomal protein S26 pseudogene 58 Neighboring gene SNRPE pseudogene 9 Neighboring gene phosphate cytidylyltransferase 1, choline, beta Neighboring gene PCYT1B antisense RNA 1 Neighboring gene H2B histone pseudogene 7

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
pyruvate dehydrogenase kinase, isozyme 3
Names
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial
pyruvate dehydrogenase kinase, isoenzyme 3
pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial
NP_001135858.1
NP_005382.1

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_016762.1 RefSeqGene

    Range
    5001..74199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142386.3NP_001135858.1  pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001135858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC004656, AI001064, AK301965, BC038512, BI549903, BU069975
    Consensus CDS
    CCDS48088.1
    UniProtKB/Swiss-Prot
    Q15120
    Related
    ENSP00000498864.1, ENST00000568479.2
    Conserved Domains (2) summary
    smart00387
    Location:238359
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:26188
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  2. NM_005391.4NP_005382.1  pyruvate dehydrogenase kinase, isozyme 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_005382.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, resulting in a shorter isoform (2) lacking the last 9 aa from the C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004656, BC015948, BI549903, L42452
    Consensus CDS
    CCDS14212.1
    UniProtKB/Swiss-Prot
    Q15120
    Related
    ENSP00000368460.4, ENST00000379162.8
    Conserved Domains (2) summary
    smart00387
    Location:238359
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:26188
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    24465227..24550466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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