InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MCCC2

Summary

InnateDB Protein

IDBP-27393.5

Last Modified

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

Gene Symbol

MCCC2

Protein Name

methylcrotonoyl-CoA carboxylase 2 (beta)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000343657

InnateDB Gene

IDBG-27391 (MCCC2)

Protein Structure

UniProt Annotation

Function

Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269PubMed:17360195}.

Subcellular Localization

Mitochondrion matrix {ECO:0000269PubMed:11170888, ECO:0000269PubMed:16023992}.

Disease Associations

Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269PubMed:11170888, ECO:0000269PubMed:11181649, ECO:0000269PubMed:11406611, ECO:0000269PubMed:22150417}. 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.

Experimentally validated
Total	22 [view]
Protein-Protein	20 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004485	methylcrotonoyl-CoA carboxylase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016874	ligase activity

Biological Process

GO:0006552	leucine catabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006768	biotin metabolic process
GO:0009083	branched-chain amino acid catabolic process
GO:0015936	coenzyme A metabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000022 Carboxyl transferase
IPR011762 Acetyl-coenzyme A carboxyltransferase, N-terminal
IPR011763 Acetyl-coenzyme A carboxyltransferase, C-terminal
IPR029045 ClpP/crotonase-like domain

PFAM

PF01039

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9HCC0

PhosphoSite