PDHA1

GENERAL INFORMATION

? »

Gene name

PDHA1

Gene description

Pyruvate dehydrogenase (lipoamide) alpha 1

Protein class

Citric acid cycle related proteins
Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most cell types.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Uncertain based on 3 antibodies.
HPA047487 , HPA047864 , HPA063053
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

PDHA1 (HGNC Symbol)

Synonyms

PDHA

Description

Pyruvate dehydrogenase (lipoamide) alpha 1 (HGNC Symbol)

Entrez gene 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), 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 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

Chromosome

X

Cytoband

p22.12

Chromosome location (bp)

19343893 - 19361705

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131828 (version 78.38)

Entrez gene

5160

UniProt

P08559 (UniProt - Evidence at protein level)

neXtProt

NX_P08559

Antibodypedia

PDHA1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000355808
 
ENST00000379804
 
ENST00000379805
 
ENST00000379806
 
ENST00000417819
 
ENST00000422285
 
ENST00000423505
 
ENST00000540249
 
ENST00000545074
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PDHA1-001 ENSP00000369133
ENST00000379805
Q5JPU0
Show all »
Show » Show » 180 19.8 No 0
PDHA1-002 ENSP00000369132
ENST00000379804
Q5JPU3
Show all »
Show » Show » 109 12.6 No 0
PDHA1-004 ENSP00000394382
ENST00000422285
P08559
Show all »
Show » Show » 390 43.3 No 0
PDHA1-008 ENSP00000348062
ENST00000355808
Q5JPT9
Show all »
Show » Show » 204 22.3 No 0
PDHA1-009 ENSP00000406473
ENST00000423505
Q5JPU1
Show all »
Show » Show » 205 22.8 Yes 0
PDHA1-010 ENSP00000404616
ENST00000417819
Q5JPU2
Show all »
Show » 121 13.8 Yes 0
PDHA1-201 ENSP00000369134
ENST00000379806
P08559
Show all »
Show » Show » 428 47.6 Yes 0
PDHA1-202 ENSP00000440761
ENST00000540249
P08559
Show all »
Show » Show » 359 40.2 No 0
PDHA1-203 ENSP00000438550
ENST00000545074
P08559
Show all »
Show » Show » 397 44.1 No 0