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
IDBP-90175 methylmalonyl CoA mutase
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
Accession GO Term
Molecular Function
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
ENSMUSG00000023921 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000014272 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_993 Propionyl-CoA catabolism
KEGG
hsa00630  Glyoxylate and dicarboxylate metabolism
hsa01100  Metabolic pathways
hsa00640  Propanoate metabolism
hsa00280  Valine, leucine and isoleucine degradation
INOH
INOH website Propanoate metabolism
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