MGP Database

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MGP002228

Record overview

MGPD IDMGP002228
Gene ID5160
SpeciesHomo sapiens (Human)
Gene Namepyruvate dehydrogenase (lipoamide) alpha 1
Gene Symbol PDHA1
SynonymsPDHA; PDHAD; PHE1A; PDHCE1A;
Alternate namespyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; PDHE1-A type I; pyruvate dehydrogenase complex, E1-alpha polypeptide 1;
ChromosomeX
Map LocationXp22.1
EC Number1.2.4.1
SummaryThe 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]
OrthologsView orthologs and multiple alignments for PDHA1

Proteins

pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor
Refseq ID:NP_000275
Protein GI:4505685
UniProt ID:P08559
mRNA ID:NM_000284
Length:390
RefSeq Status:
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEAC
CVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAAN
QGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS
YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..397
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3
calculated_mol_wt: 41042
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFIC
ENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKD
RMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..359
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4
calculated_mol_wt: 37122
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGL
SVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDIL
CVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3077
peptide sequence: 
MRKMLAAVSRVLSGASQKPRHGLATLPSL

mat_peptide: 30..428
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2
calculated_mol_wt: 44521
peptide sequence: 
VSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFC
HLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCL
TLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHG
HSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..390
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1
calculated_mol_wt: 40229
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGL
SVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGM
GTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNL
ASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor
Refseq ID:NP_001166925
Protein GI:291084742
UniProt ID:P08559
mRNA ID:NM_001173454
Length:428
RefSeq Status:
MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGL
KYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYG
GNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCV
REATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLE
ELGYHIYSSDPPFEVRGANQWIKFKSVS
 
transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..397
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3
calculated_mol_wt: 41042
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFIC
ENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKD
RMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..359
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4
calculated_mol_wt: 37122
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGL
SVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDIL
CVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3077
peptide sequence: 
MRKMLAAVSRVLSGASQKPRHGLATLPSL

mat_peptide: 30..428
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2
calculated_mol_wt: 44521
peptide sequence: 
VSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFC
HLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCL
TLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHG
HSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor
Refseq ID:NP_001166926
Protein GI:291084744
UniProt ID:P08559
mRNA ID:NM_001173455
Length:397
RefSeq Status:
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLL
PLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTL
YGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHS
MSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..397
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3
calculated_mol_wt: 41042
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFIC
ENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKD
RMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor
Refseq ID:NP_001166927
Protein GI:291084757
UniProt ID:P08559
mRNA ID:NM_001173456
Length:359
RefSeq Status:
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEAC
CVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGT
SVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLAS
VEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..397
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3
calculated_mol_wt: 41042
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFIC
ENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKD
RMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS

transit_peptide: 1..29
calculated_mol_wt: 3085
peptide sequence: 
MRKMLAAVSRVLSGASQKPASRVLVASRN

mat_peptide: 30..359
product: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4
calculated_mol_wt: 37122
peptide sequence: 
FANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGL
SVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDIL
CVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS
 
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