InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MUT

Summary

InnateDB Protein

IDBP-90175.6

Last Modified

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

Gene Symbol

MUT

Protein Name

methylmalonyl CoA mutase

Synonyms

MCM;

Species

Homo sapiens

Ensembl Protein

ENSP00000274813

InnateDB Gene

IDBG-90173 (MUT)

Protein Structure

UniProt Annotation

Function

Involved in the degradation of several amino acids, odd- chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.

Subcellular Localization

Mitochondrion matrix.

Disease Associations

Methylmalonic aciduria type mut (MMAM) [MIM:251000]: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. {ECO:0000269PubMed:10923046, ECO:0000269PubMed:11350191, ECO:0000269PubMed:1346616, ECO:0000269PubMed:1351030, ECO:0000269PubMed:15643616, ECO:0000269PubMed:15781192, ECO:0000269PubMed:16281286, ECO:0000269PubMed:1670635, ECO:0000269PubMed:1977311, ECO:0000269PubMed:7909321, ECO:0000269PubMed:7912889, ECO:0000269PubMed:9285782, ECO:0000269PubMed:9452100, ECO:0000269PubMed:9554742}. 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 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	7 [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:0003824	catalytic activity
GO:0004494	methylmalonyl-CoA mutase activity
GO:0016853	isomerase activity
GO:0016866	intramolecular transferase activity
GO:0031419	cobalamin binding
GO:0046872	metal ion binding
GO:0072341	modified amino acid binding

Biological Process

GO:0006635	fatty acid beta-oxidation
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0008152	metabolic process
GO:0009235	cobalamin metabolic process
GO:0009791	post-embryonic development
GO:0019626	short-chain fatty acid catabolic process
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0050667	homocysteine metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
IPR006158 Cobalamin (vitamin B12)-binding domain
IPR006159 Methylmalonyl-CoA mutase, C-terminal
IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic

PFAM

PF01642
PF02310

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P22033

PhosphoSite