|
GENERAL INFORMATION
? »
|
Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
|
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
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" is shown for genes analyzed with a knowledge-based approach where
available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with
immunohistochemistry-data to yield a reliable estimation of the protein expression profile.
|
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
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
|
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
|
|
|
|
PROTEIN EXPRESSION OVERVIEW
? »
|
Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found in a
selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in
detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation could not be performed, no protein
expression data is displayed in the protein expression data overview, however, all immunohistochemical images are
still available and the annotation data can be found under Primary data.
|
|
|
|
GENE INFORMATION
? »
|
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
|
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
? »
|
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues
(HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius (turquoise)
and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow
and InterPro regions in green. Common (purple) and
unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the
bottom of the protein view is the protein scale.
|
|
|
PROTEIN INFORMATION
? »
|
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this
gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary
for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the
protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are
listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a
majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0 and
Phobius) and the number of predicted transmembrane region(s)
(according to MDM) are also reported.
|
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 »
« Hide
Q5JPU0 [Target identity:100%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369133}
|
Show »
« Hide
Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process]
|
180 |
19.8 |
No |
0 |
PDHA1-002 |
ENSP00000369132
ENST00000379804
|
Q5JPU3 Show all »
« Hide
Q5JPU3 [Target identity:100%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369132} Q6LCA3 [Target identity:54%; Query identity:100%]Pyruvate dehydrogenase E1-alpha-subunit {ECO:0000313|EMBL:AAB39724.1} Q9UNV7 [Target identity:33%; Query identity:100%]Pyruvate dehydrogenase alpha subunit {ECO:0000313|EMBL:AAD16047.1}
|
Show »
« Hide
Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process]
|
109 |
12.6 |
No |
0 |
PDHA1-004 |
ENSP00000394382
ENST00000422285
|
P08559 Show all »
« Hide
P08559 [Direct mapping]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial A0A024RBX9 [Target identity:100%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha {ECO:0000256|RuleBase:RU361139} A5YPB6 [Target identity:66%; Query identity:100%]PDHA1 {ECO:0000313|EMBL:ABQ58815.1} Q5JPU3 [Target identity:27%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369132} Q6LCA3 [Target identity:15%; Query identity:100%]Pyruvate dehydrogenase E1-alpha-subunit {ECO:0000313|EMBL:AAB39724.1} Q9UNV7 [Target identity:9%; Query identity:100%]Pyruvate dehydrogenase alpha subunit {ECO:0000313|EMBL:AAD16047.1}
|
Show »
« Hide
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Mitochondrial proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
390 |
43.3 |
No |
0 |
PDHA1-008 |
ENSP00000348062
ENST00000355808
|
Q5JPT9 Show all »
« Hide
Q5JPT9 [Target identity:99%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000348062}
|
Show »
« Hide
SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process]
|
204 |
22.3 |
No |
0 |
PDHA1-009 |
ENSP00000406473
ENST00000423505
|
Q5JPU1 Show all »
« Hide
Q5JPU1 [Target identity:100%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000406473}
|
Show »
« Hide
Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Citric acid cycle related proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process]
|
205 |
22.8 |
Yes |
0 |
PDHA1-010 |
ENSP00000404616
ENST00000417819
|
Q5JPU2 Show all »
« Hide
Q5JPU2 [Target identity:100%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000404616}
|
Show »
« Hide
Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Citric acid cycle related proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
|
121 |
13.8 |
Yes |
0 |
PDHA1-201 |
ENSP00000369134
ENST00000379806
|
P08559 Show all »
« Hide
P08559 [Direct mapping]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial A5YPB6 [Target identity:60%; Query identity:100%]PDHA1 {ECO:0000313|EMBL:ABQ58815.1} Q5JPU1 [Target identity:47%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000406473} Q5JPU3 [Target identity:25%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369132} Q6LCA3 [Target identity:13%; Query identity:100%]Pyruvate dehydrogenase E1-alpha-subunit {ECO:0000313|EMBL:AAB39724.1} Q9UNV7 [Target identity:8%; Query identity:100%]Pyruvate dehydrogenase alpha subunit {ECO:0000313|EMBL:AAD16047.1}
|
Show »
« Hide
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Mitochondrial proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
428 |
47.6 |
Yes |
0 |
PDHA1-202 |
ENSP00000440761
ENST00000540249
|
P08559 Show all »
« Hide
P08559 [Direct mapping]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Q5JPU3 [Target identity:30%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369132} Q6LCA3 [Target identity:16%; Query identity:100%]Pyruvate dehydrogenase E1-alpha-subunit {ECO:0000313|EMBL:AAB39724.1} Q9UNV7 [Target identity:10%; Query identity:100%]Pyruvate dehydrogenase alpha subunit {ECO:0000313|EMBL:AAD16047.1}
|
Show »
« Hide
Enzymes ENZYME proteins Oxidoreductases Phobius predicted secreted proteins Predicted intracellular proteins Mitochondrial proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
359 |
40.2 |
No |
0 |
PDHA1-203 |
ENSP00000438550
ENST00000545074
|
P08559 Show all »
« Hide
P08559 [Direct mapping]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial A5YPB6 [Target identity:65%; Query identity:100%]PDHA1 {ECO:0000313|EMBL:ABQ58815.1} Q5JPT9 [Target identity:51%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000348062} Q5JPU3 [Target identity:27%; Query identity:100%]Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial {ECO:0000313|Ensembl:ENSP00000369132} Q6LCA3 [Target identity:14%; Query identity:100%]Pyruvate dehydrogenase E1-alpha-subunit {ECO:0000313|EMBL:AAB39724.1} Q9UNV7 [Target identity:9%; Query identity:100%]Pyruvate dehydrogenase alpha subunit {ECO:0000313|EMBL:AAD16047.1}
|
Show »
« Hide
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Mitochondrial proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
397 |
44.1 |
No |
0 |
|
|
|