Homo sapiens Gene: MUT
Summary
InnateDB Gene IDBG-90173.6
Last Modified 2014-10-13 [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 6:49430360-49463191
Strand Reverse strand
Band p12.3
Transcripts
ENST00000274813 ENSP00000274813
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
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
Metabolism of lipids and lipoproteins pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Propionyl-CoA catabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Mitochondrial Fatty Acid Beta-Oxidation pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Valine, leucine and isoleucine degradation pathway
Glyoxylate and dicarboxylate metabolism pathway
Propanoate metabolism pathway
INOH
Propanoate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P22033
TrEMBL A0A024RD82 S4UML7 T1WHH0
UniProt Splice Variant
Entrez Gene 4594
UniGene Hs.485527 Hs.598713 Hs.653296
RefSeq NM_000255 XM_005249143
HUGO HGNC:7526
OMIM 609058
CCDS CCDS4924
HPRD 02014
IMGT
EMBL AK292568 AL590668 BC016282 BT007434 CH471081 KC594081 KC594082 KC594083 KC594084 KC594085 KC594086 KC594087 KC594088 KC594089 KC594090 KC594091 KC594093 KC594095 KC594097 KC594098 KF030882 M37499 M37500 M37501 M37503 M37504 M37505 M37506 M37507 M37508 M37509 M37510 M65131
GenPept AAA59569 AAA99226 AAH16282 AAP36102 AGL09919 AGL09920 AGL09921 AGL09922 AGL09923 AGL09924 AGL09925 AGL09926 AGL09927 AGL09928 AGL09929 AGL09931 AGL09932 AGL09934 AGL09935 AGU16980 BAF85257 CAI14311 EAX04329 EAX04330
ImmGen MUT (murine)
RNA Seq Atlas 4594