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FLASH GENE

Symbol

PDHA1

contributors: mct/npt - updated : 06-07-2022

HGNC name	pyruvate dehydrogenase (lipoamide) alpha 1
HGNC id	8806

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	17.79 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

tissue-specific transcription factor binding sites

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - DXS1195 - DXS418 -[DXS999 - DXS443 - DXS3424 - RPS6KA3 - DXS1229 - DXS2504 - DXS1528 - DXS365 ] - DXS7101 - DXS1683 - DXS1052 - DXS274 - DXS92 - DXS1226 - DXS41 - DXS989 - DXS451 - cen
Authors	Van de Vosse (94), Trump (95), Börglum (96)
Text	[PDHA1 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000284 11 - 3390 NP_000275 - 390 - 2021 34384830 NM_001173454 12 - 3504 NP_001166925 - 428 - 2021 34384830 NM_001173455 12 - 3337 NP_001166926 - 397 - 2021 34384830 NM_001173456 10 - 3223 NP_001166927 - 359 - 2021 34384830

EXPRESSION

Type	ubiquitous

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       highly Digestive liver       highly Reproductive male system testis     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte Reproductive Sertoli cell Reproductive spermatid Reproductive spermatozoa

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

two alpha and two beta subunits

mono polymer

heteromer , tetramer

isoforms

Precursor

the first 29 amino acids correspond to a typical mitochondrial targeting leader sequence; the remaining 361 amino acids represent the mature peptide

HOMOLOGY

interspecies

homolog to murine Pdha1

intraspecies

homolog to PDHA2

Homologene

FAMILY

CATEGORY

enzyme

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

basic FUNCTION	mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA
	serves as a gate-keeper enzyme link between glycolysis and the mitochondrial citric acid cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

E1 alpha polypeptide of the complex forming an heterotetramer alpha2/beta2 bound to two TPP (thiamine-pyrophosphate) one each bridging E1 alpha and E1 beta to form an active site catalyzing the irreversible decarboxylation of pyruvate to acetyl-CoA

INTERACTION

DNA

RNA

small molecule	cofactor,
	thiamine pyrophosphate

protein

cell & other

REGULATION

activated by

thyroid hormones

ASSOCIATED DISORDERS

corresponding disease(s)

PDHA1D , LGS

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   promotes cancer progression and acts as a poor prognostic factor for cancer tumoral     --low   significantly correlated with a poorer overall survival in patients with Gastric cancer constitutional     --low   significantly decreased in the putamen and substantia nigra of patients with idiopathic Parkinson disease

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	decreased expression of PDHA1 might be an independent prognostic factor in unfavorable outcomes in ovarian carcinoma
	PDHA1 is an independent predictor of overall survival in Gastric cancer
Therapy target

ANIMAL & CELL MODELS