Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PDHX

contributors: mct - updated : 05-02-2011

HGNC name	pyruvate dehydrogenase complex, component X
HGNC id	21350

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PDHX pyruvate dehydrogenase e3-binding protein deficiency
Location	11p13      Physical location : 34.937.676 - 35.017.674
Synonym name	lipoyl-containing protein (protein X)
	E3-binding protein
Synonym symbol(s)	DLDBP, E3BP, OPDX, PDX1, proX

DNA

TYPE	functioning gene
STRUCTURE	80.00 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003477 11 - 2991 NP_003468 - 501 - 2006 16442803 NM_001135024 11 - 5689 NP_001128496 - 486 - - NM_001166158 6 - 2310 NP_001159630 - 274 - -

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a biotin binding lipoyl domain
	an E3 binding domain
	2 oxoacid dehydrogenase acyltransferase catalytic domain

HOMOLOGY

intraspecies

homolog to lipoate acetyltransferase (E2)

Homologene

FAMILY

2-oxoacid dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	required for anchoring E3 to the dihydrolipoamide transacetylase (E2) core of PDH complex. mediating the binding and optimal orientation of E3 with E2
	E3 subunit of the pyruvate dehydrogenase (PDH) complex involved in the conversion of pyruvate to acetyl coenzyme A, which links glycolysis and the Krebs cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component

subunit of the pyruvate dehydrogenase complex

INTERACTION

DNA

RNA

small molecule

protein

binding lipoamide dehydrogenase (E3)

cell & other

REGULATION

Other

regulated by HNF3B,HNF1A,SP1 and SP3 transcription factors

ASSOCIATED DISORDERS

corresponding disease(s)

PDHX

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       correlated with non-progressive encephalopathy and long-term survival

Susceptibility

Variant & Polymorphism

Candidate gene	for susceptibility to systemic lupus erythematosus
Marker
Therapy target

ANIMAL & CELL MODELS