Version 5.4
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
IDBP-90175
methylmalonyl CoA mutase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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
ENSMUSG00000023921
View Gene Order
ENSBTAG00000014272
Not yet available
Pathways
NETPATH
REACTOME
REACT_993
Propionyl-CoA catabolism pathway
REACT_22279
Fatty acid, triacylglycerol, and ketone body metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_1473
Mitochondrial Fatty Acid Beta-Oxidation pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_163862
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
KEGG
hsa00280
Valine, leucine and isoleucine degradation pathway
hsa00640
Propanoate metabolism pathway
hsa00630
Glyoxylate and dicarboxylate metabolism pathway
INOH
INOH website
Propanoate metabolism pathway
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
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
RNA Seq Atlas 4594

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca