InnateDB Protein
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IDBP-82364.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PCK1
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Protein Name
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phosphoenolpyruvate carboxykinase 1 (soluble)
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Synonyms
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PEPCK-C; PEPCK1; PEPCKC;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000319814
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InnateDB Gene
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IDBG-82362 (PCK1)
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Protein Structure
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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.
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Subcellular Localization |
Cytoplasm.
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Disease Associations |
Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]: 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.
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Tissue Specificity |
Major sites of expression are liver, kidney and adipocytes.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
80
[view]
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Protein-Protein |
76
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008209
Phosphoenolpyruvate carboxykinase, GTP-utilising
IPR008210
Phosphoenolpyruvate carboxykinase, N-terminal
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PFAM |
PF00821
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PRINTS |
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PIRSF |
PIRSF001348
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P35558
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PhosphoSite |
PhosphoSite-P35558
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5105
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UniGene |
Hs.1872
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RefSeq |
NP_002582
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HUGO |
HGNC:8724
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OMIM |
614168
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CCDS |
CCDS13460
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HPRD |
02028
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IMGT |
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EMBL |
AK290802
AL035541
AY794987
BC023978
CH471077
L05144
L12760
U31519
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GenPept |
AAA02558
AAA60084
AAA91026
AAH23978
AAV50001
BAF83491
CAB55863
EAW75514
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