InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PC

Summary

InnateDB Protein

IDBP-242563.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

pyruvate carboxylase

Synonyms

PCB;

Species

Homo sapiens

Ensembl Protein

ENSP00000377532

InnateDB Gene

IDBG-59727 (PC)

Protein Structure

UniProt Annotation

Function

Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003824	catalytic activity
GO:0004075	biotin carboxylase activity
GO:0004736	pyruvate carboxylase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008716	D-alanine-D-alanine ligase activity
GO:0009374	biotin binding
GO:0016874	ligase activity
GO:0031406	carboxylic acid binding
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006090	pyruvate metabolic process
GO:0006094	gluconeogenesis
GO:0006107	oxaloacetate metabolic process
GO:0006629	lipid metabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006768	biotin metabolic process
GO:0008152	metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005759	mitochondrial matrix
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000089 Biotin/lipoyl attachment
IPR000891 Pyruvate carboxyltransferase
IPR003379 Carboxylase, conserved domain
IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
IPR005481 Carbamoyl-phosphate synthase, large subunit, N-terminal
IPR005482 Biotin carboxylase, C-terminal
IPR005930 Pyruvate carboxylase
IPR011053 Single hybrid motif
IPR011054 Rudiment single hybrid motif
IPR011095 D-alanine--D-alanine ligase, C-terminal
IPR011761 ATP-grasp fold
IPR011764 Biotin carboxylation domain
IPR016185 Pre-ATP-grasp domain

PFAM