• Gene id: 5160

Gene Summary

• Gene Symbol: PDHA1   Gene   UCSC   Ensembl
• Aliases: PDHA, PDHAD, PDHCE1A, PHE1A
• Gene name: pyruvate dehydrogenase E1 subunit alpha 1
• Alternate names: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, PDHE1-A type I, pyruvate dehydrogenase (lipoamide) alpha 1, pyruvate dehydrogenase E1 alpha 1 subunit, pyruvate dehydrogenase E1 subunit, pyruvate dehydrogenase alpha 1, pyruvate de,
• Gene location: Xp22.12 (19343892: 19361717)     Exons: 12     NC_000023.11
• Gene summary(Entrez): 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) cy
• OMIM: 300502

Protein Summary

• Protein general information: P08559  
  • Name: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (EC 1.2.4.1) (PDHE1 A type I)
  • Length: 390  
  • Mass: 43296
  • Tissue specificity: Ubiquitous.
• Sequence:

  MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
  LKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKG
  GSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN
  RYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS
  YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPF
  EVRGANQWIKFKSVS

• Structural information:
  • Interpro: IPR001017  IPR017597  IPR029061  
  • PDB: 1NI4 2OZL 3EXE 3EXF 3EXG 3EXH 3EXI 6CER 6CFO
  • PDBsum: 1NI4 2OZL 3EXE 3EXF 3EXG 3EXH 3EXI 6CER 6CFO
  • DIP: 37652
  • STRING: ENSP00000369134
• Other Databases: GeneCards:  PDHA1  Malacards:  PDHA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004739	pyruvate dehydrogenase (acetyl-transferring) activity	IBA	molecular function
GO:0005967	mitochondrial pyruvate dehydrogenase complex	IBA	cellular component
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IBA	biological process
GO:0045254	pyruvate dehydrogenase complex	IDA	cellular component
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IDA	biological process
GO:0004739	pyruvate dehydrogenase (acetyl-transferring) activity	IEA	molecular function
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0004739	pyruvate dehydrogenase (acetyl-transferring) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006090	pyruvate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004738	pyruvate dehydrogenase activity	IEA	molecular function
GO:0061732	mitochondrial acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0004739	pyruvate dehydrogenase (acetyl-transferring) activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04922	Glucagon signaling pathway
hsa04066	HIF-1 signaling pathway
hsa00010	Glycolysis / Gluconeogenesis
hsa05230	Central carbon metabolism in cancer
hsa00620	Pyruvate metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E1-alpha deficiency	KEGG:H01997
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E1-alpha deficiency	KEGG:H01997
pyruvate decarboxylase deficiency	PMID:20002461
pyruvate decarboxylase deficiency	PMID:10679936
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R