InnateDB Protein
|
IDBP-236345.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
PCK2
|
Protein Name
|
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
|
Synonyms
|
PEPCK; PEPCK-M; PEPCK2;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000380171
|
InnateDB Gene
|
IDBG-3497 (PCK2)
|
Protein Structure
|
|
Function |
Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. {ECO:0000250}.
|
Subcellular Localization |
Mitochondrion.
|
Disease Associations |
Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
8
[view]
|
Protein-Protein |
7
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
1 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR008209
Phosphoenolpyruvate carboxykinase, GTP-utilising
IPR008210
Phosphoenolpyruvate carboxykinase, N-terminal
|
PFAM |
PF00821
|
PRINTS |
|
PIRSF |
PIRSF001348
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q16822
|
PhosphoSite |
PhosphoSite-Q16822
|
TrEMBL |
H0YNG4
|
UniProt Splice Variant |
|
Entrez Gene |
5106
|
UniGene |
Hs.75812
|
RefSeq |
NP_001018083
|
HUGO |
HGNC:8725
|
OMIM |
614095
|
CCDS |
CCDS41928
|
HPRD |
02026
|
IMGT |
|
EMBL |
AL136295
BC001454
BX248272
X92720
Y11484
|
GenPept |
AAH01454
CAA63380
CAA72272
CAD62600
|
|
|