Homo sapiens Gene: MUT
Summary
InnateDB Gene IDBG-90173.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol MUT
Gene Name methylmalonyl CoA mutase
Synonyms MCM;
Species Homo sapiens
Ensembl Gene ENSG00000146085
Encoded Proteins
methylmalonyl CoA mutase
Protein Structure
Entrez Gene
Summary This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:49398073-49430904
Strand Reverse strand
Band p12.3
Transcripts
ENST00000274813 ENSP00000274813
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 5 [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:0008152 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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Propionyl-CoA catabolism pathway
KEGG
Metabolic pathways pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
Glyoxylate and dicarboxylate metabolism pathway
INOH
Propanoate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P22033
TrEMBL
UniProt Splice Variant
Entrez Gene 4594
UniGene Hs.485527 Hs.598713 Hs.653296
RefSeq NM_000255
HUGO 7526
OMIM 609058
CCDS CCDS4924
HPRD 02014
IMGT
EMBL AK292568 AL590668 BC016282 BT007434 M37499 M37500 M37501 M37503 M37504 M37505 M37506 M37507 M37508 M37509 M37510 M65131
GenPept AAA59569 AAA99226 AAH16282 AAP36102 BAF85257 CAI14311
ImmGen MUT (murine)
RNA Seq Atlas 4594