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Aliases for MUT Gene

Aliases for MUT Gene

  • Methylmalonyl CoA Mutase 2 3
  • MCM 3 4 6
  • Methylmalonyl Coenzyme A Mutase 2 3
  • Methylmalonyl-CoA Isomerase 3 4
  • EC 5.4.99.2 4 64
  • Methylmalonyl-CoA Mutase, Mitochondrial 3

External Ids for MUT Gene

Summaries for MUT Gene

Entrez Gene Summary for MUT Gene

  • 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]

GeneCards Summary for MUT Gene

MUT (Methylmalonyl CoA Mutase) is a Protein Coding gene. Diseases associated with MUT include methylmalonyl-coenzyme a mutase deficiency and methylmalonic aciduria, mut(0) type. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding and methylmalonyl-CoA mutase activity.

UniProtKB/Swiss-Prot for MUT Gene

  • 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

Gene Wiki entry for MUT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUT Gene

Genomics for MUT Gene

Genomic Location for MUT Gene

Start:
49,430,360 bp from pter
End:
49,463,328 bp from pter
Size:
32,969 bases
Orientation:
Minus strand

Genomic View for MUT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MUT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUT Gene

Regulatory Elements for MUT Gene

Proteins for MUT Gene

  • Protein details for MUT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22033-MUTA_HUMAN
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial
    Protein Accession:
    P22033
    Secondary Accessions:
    • A8K953
    • Q5SYZ3
    • Q96B11
    • Q9UD64

    Protein attributes for MUT Gene

    Size:
    750 amino acids
    Molecular mass:
    83134 Da
    Cofactor:
    Name=adenosylcob(III)alamin; Xref=ChEBI:CHEBI:18408;
    Quaternary structure:
    • Homodimer

    Three dimensional structures from OCA and Proteopedia for MUT Gene

neXtProt entry for MUT Gene

Proteomics data for MUT Gene at MOPED

Post-translational modifications for MUT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MUT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MUT Gene

UniProtKB/Swiss-Prot:

MUTA_HUMAN
Domain:
  • Contains 1 B12-binding domain.:
    • P22033
Family:
  • Belongs to the methylmalonyl-CoA mutase family.:
    • P22033
genes like me logo Genes that share domains with MUT: view

No data available for Gene Families for MUT Gene

Function for MUT Gene

Molecular function for MUT Gene

GENATLAS Biochemistry: methylmalonyl-CoA mutase
UniProtKB/Swiss-Prot CatalyticActivity: (R)-methylmalonyl-CoA = succinyl-CoA
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for MUT Gene

Gene Ontology (GO) - Molecular Function for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004494 methylmalonyl-CoA mutase activity IEA --
GO:0016853 isomerase activity --
GO:0016866 intramolecular transferase activity --
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with MUT: view
genes like me logo Genes that share phenotypes with MUT: view

Animal Models for MUT Gene

MGI Knock Outs for MUT:

miRNA for MUT Gene

miRTarBase miRNAs that target MUT

No data available for Transcription Factor Targeting and HOMER Transcription for MUT Gene

Localization for MUT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUT Gene COMPARTMENTS Subcellular localization image for MUT gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2567699
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MUT: view

Pathways for MUT Gene

SuperPathways for MUT Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Fatty acid, triacylglycerol, and ketone body metabolism
3 Metabolism
4 Valine, leucine and isoleucine degradation
5 superpathway of methionine degradation
genes like me logo Genes that share pathways with MUT: view

Gene Ontology (GO) - Biological Process for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0008152 metabolic process --
GO:0009235 cobalamin metabolic process TAS --
genes like me logo Genes that share ontologies with MUT: view

Compounds for MUT Gene

(6) HMDB Compounds for MUT Gene

Compound Synonyms Cas Number PubMed IDs
Adenosylcobalamin
  • (5'-Deoxy-5'-adenosyl)cobamide coenzyme
13870-90-1
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cobalt
  • Co
7440-48-4
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9
R-Methylmalonyl-CoA
73173-92-9

(2) Drugbank Compounds for MUT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 target cofactor
Hydroxocobalamin
  • Hydroxomin
13422-51-0 target cofactor

(16) Novoseek inferred chemical compound relationships for MUT Gene

Compound -log(P) Hits PubMed IDs
adenosylcobalamin 94.5 20
l-methylmalonyl-coa 91.1 5
cobalamin 79.6 11
methylmalonic acid 79.4 3
methylcobalamin 64.9 2
genes like me logo Genes that share compounds with MUT: view

Transcripts for MUT Gene

mRNA/cDNA for MUT Gene

Unigene Clusters for MUT Gene

Methylmalonyl CoA mutase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3: -
SP4: -

Relevant External Links for MUT Gene

GeneLoc Exon Structure for
MUT
ECgene alternative splicing isoforms for
MUT

Expression for MUT Gene

mRNA expression in normal human tissues for MUT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUT Gene

This gene is overexpressed in Liver (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MUT Gene

SOURCE GeneReport for Unigene cluster for MUT Gene Hs.485527

genes like me logo Genes that share expressions with MUT: view

Orthologs for MUT Gene

This gene was present in the common ancestor of animals.

Orthologs for MUT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUT 36
  • 99.6 (n)
  • 99.6 (a)
MUT 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MUT 36
  • 92.22 (n)
  • 95.07 (a)
MUT 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUT 36
  • 92.71 (n)
  • 95.07 (a)
MUT 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mut 36
  • 88.99 (n)
  • 95.05 (a)
Mut 16
Mut 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUT 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUT 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mut 36
  • 88.46 (n)
  • 95.19 (a)
chicken
(Gallus gallus)
Aves MUT 36
  • 79.46 (n)
  • 87.57 (a)
MUT 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUT 37
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4891 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mut 36
  • 74.94 (n)
  • 86.38 (a)
Str.10358 36
zebrafish
(Danio rerio)
Actinopterygii Dr.7055 36
mut 36
  • 73.07 (n)
  • 84.12 (a)
mut 37
  • 80 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mmcm-1 36
  • 66.48 (n)
  • 70.92 (a)
mmcm-1 37
  • 69 (a)
OneToOne
ZK1058.1 38
  • 69 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4477 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 74 (a)
OneToOne
Species with no ortholog for MUT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MUT Gene

ENSEMBL:
Gene Tree for MUT (if available)
TreeFam:
Gene Tree for MUT (if available)

Paralogs for MUT Gene

No data available for Paralogs for MUT Gene

Variants for MUT Gene

Sequence variations from dbSNP and Humsavar for MUT Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs8589 Benign, - 49,435,569(-) TGGGC(A/G)TAAGC reference, missense
rs14341 -- 49,431,698(-) GTCTA(A/G)AATAT utr-variant-3-prime
rs1136145 -- 49,440,210(-) TCTTT(C/T)CCAGA missense, reference
rs1141321 Benign, - 49,444,720(-) TGAAC(A/C/G)TTGTC missense, reference
rs1141333 -- 49,431,413(-) AATCT(C/G)TTTAC utr-variant-3-prime

Relevant External Links for MUT Gene

HapMap Linkage Disequilibrium report
MUT
Human Gene Mutation Database (HGMD)
MUT
Locus Specific Mutation Databases (LSDB)
MUT

No data available for Structural Variations from Database of Genomic Variants (DGV) for MUT Gene

Disorders for MUT Gene

(1) OMIM Diseases for MUT Gene (609058)

UniProtKB/Swiss-Prot

MUTA_HUMAN
  • 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:0000269 PubMed:10923046, ECO:0000269 PubMed:11350191, ECO:0000269 PubMed:1346616, ECO:0000269 PubMed:1351030, ECO:0000269 PubMed:15643616, ECO:0000269 PubMed:15781192, ECO:0000269 PubMed:16281286, ECO:0000269 PubMed:1670635, ECO:0000269 PubMed:1977311, ECO:0000269 PubMed:7909321, ECO:0000269 PubMed:7912889, ECO:0000269 PubMed:9285782, ECO:0000269 PubMed:9452100, ECO:0000269 PubMed:9554742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for MUT Gene

Disease -log(P) Hits PubMed IDs
methylmalonic aciduria 97.1 36
metabolic disorder 27.7 3
acidosis 24.7 1

Genatlas disease for MUT Gene

hyperglycinemia,ketotic methylmalonic acidemia

Relevant External Links for MUT

GeneTests
MUT
GeneReviews
MUT
Genetic Association Database (GAD)
MUT
Human Genome Epidemiology (HuGE) Navigator
MUT
genes like me logo Genes that share disorders with MUT: view

Publications for MUT Gene

  1. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID: 16281286) Worgan L.C. … Rosenblatt D.S. (Hum. Mutat. 2006) 3 4 23 25
  2. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. (PMID: 1346616) Crane A.M. … Ledley F.D. (J. Clin. Invest. 1992) 3 4 23
  3. Structure of the human methylmalonyl-CoA mutase (MUT) locus. (PMID: 1980486) Nham S.U. … Ledley F.D. (Genomics 1990) 3 4 23
  4. Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia. (PMID: 7912889) Crane A.M. … Ledley F.D. (Am. J. Hum. Genet. 1994) 3 4 23
  5. Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. (PMID: 9285782) Janata J. … Fenton W.A. (Hum. Mol. Genet. 1997) 3 4 23

Products for MUT Gene

Sources for MUT Gene

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