• Gene id: 8050

Gene Summary

• Gene Symbol: PDHX   Gene   UCSC   Ensembl
• Aliases: DLDBP, E3BP, OPDX, PDHXD, PDX1, proX
• Gene name: pyruvate dehydrogenase complex component X
• Alternate names: pyruvate dehydrogenase protein X component, mitochondrial, dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex, lipoyl-containing pyruvate dehydrogenase complex component X, pyruvate dehydrogenase complex, E3-binding protein subu,
• Gene location: 11p13 (39867437: 39929391)     Exons: 3     NC_000021.9
• Gene summary(Entrez): The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1,
• OMIM: 608769

Protein Summary

• Protein general information: O00330  
  • Name: Pyruvate dehydrogenase protein X component, mitochondrial (Dihydrolipoamide dehydrogenase binding protein of pyruvate dehydrogenase complex) (E3 binding protein) (E3BP) (Lipoyl containing pyruvate dehydrogenase complex component X) (proX)
  • Length: 501  
  • Mass: 54122
• Sequence:

  MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVK
  WLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPP
  PPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQT
  GKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH
  AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLT
  PIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLK
  LTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA

• Structural information:
  • Protein Domains: (56..13-)
    (/note="Lipoyl-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01066-)
    (183..22-)
    (PSBD) (/note="Peripheral-subunit-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01170"-)
  • Interpro: IPR003016  IPR001078  IPR000089  IPR023213  IPR036625   IPR004167  IPR011053  
  • Prosite: PS50968 PS00189 PS51826
  • PDB: 1ZY8 2DNC 2F5Z 2F60 6H60
  • PDBsum: 1ZY8 2DNC 2F5Z 2F60 6H60
  • DIP: 29026
  • STRING: ENSP00000227868
• Other Databases: GeneCards:  PDHX  Malacards:  PDHX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045254	pyruvate dehydrogenase complex	IBA	cellular component
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IBA	contributes to
GO:0005739	mitochondrion	IBA	cellular component
GO:0045254	pyruvate dehydrogenase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0045254	pyruvate dehydrogenase complex	IDA	cellular component
GO:0061732	mitochondrial acetyl-CoA biosynthetic process from pyruvate	IC	biological process
GO:0034604	pyruvate dehydrogenase (NAD+) activity	IDA	contributes to
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E3-binding protein deficiency	KEGG:H02003
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase E3-binding protein deficiency	KEGG:H02003
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq