Human Gene MMUT (uc003ozg.4)
  Description: Homo sapiens methylmalonyl CoA mutase (MMUT), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_000255): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr6:49,398,073-49,431,041 Size: 32,969 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr6:49,399,441-49,427,179 Size: 27,739 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:49,398,073-49,431,041)mRNA (may differ from genome)Protein (750 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MUTA_HUMAN
DESCRIPTION: RecName: Full=Methylmalonyl-CoA mutase, mitochondrial; Short=MCM; EC=5.4.99.2; AltName: Full=Methylmalonyl-CoA isomerase; Flags: Precursor;
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.
CATALYTIC ACTIVITY: (R)-methylmalonyl-CoA = succinyl-CoA.
COFACTOR: Adenosylcobalamin.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Mitochondrion matrix.
DISEASE: Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:251000]. MMAM is 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.
SIMILARITY: Belongs to the methylmalonyl-CoA mutase family.
SIMILARITY: Contains 1 B12-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MUT";
WEB RESOURCE: Name=Wikipedia; Note=Methylmalonyl coenzyme A mutase entry; URL="http://en.wikipedia.org/wiki/Methylmalonyl_Coenzyme_A_mutase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.12 RPKM in Liver
Total median expression: 579.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.71265-0.410 Picture PostScript Text
3' UTR -295.841368-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006159 - Acid_CoA_mut_C
IPR016176 - Cbl-dep_enz_cat
IPR014348 - Cbl-dep_enz_cat-sub
IPR006158 - Cobalamin-bd
IPR006099 - MeMalonylCoA_mutase_a/b_cat
IPR006098 - MMCoA_mutase_a_cat

Pfam Domains:
PF01642 - Methylmalonyl-CoA mutase
PF02310 - B12 binding domain

SCOP Domains:
51703 - Cobalamin (vitamin B12)-dependent enzymes
52242 - Cobalamin (vitamin B12)-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2XIJ - X-ray MuPIT 2XIQ - X-ray MuPIT 3BIC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22033
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0003924 GTPase activity
GO:0004494 methylmalonyl-CoA mutase activity
GO:0005515 protein binding
GO:0016853 isomerase activity
GO:0016866 intramolecular transferase activity
GO:0031419 cobalamin binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0072341 modified amino acid binding

Biological Process:
GO:0008152 metabolic process
GO:0009235 cobalamin metabolic process
GO:0009791 post-embryonic development
GO:0043547 positive regulation of GTPase activity
GO:0050667 homocysteine metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  MF170176 - Homo sapiens truncated methylmalonyl-CoA mutase variant c.91C>T (MUT) mRNA, complete cds.
MF170177 - Homo sapiens methylmalonyl-CoA mutase variant c.322C>T (MUT) mRNA, complete cds.
MF170178 - Homo sapiens methylmalonyl-CoA mutase variant c.613_615delGAA (MUT) mRNA, complete cds.
MF170179 - Homo sapiens methylmalonyl-CoA mutase variant c.636G>A (MUT) mRNA, complete cds.
MF170180 - Homo sapiens methylmalonyl-CoA mutase variant c.643G>A (MUT) mRNA, complete cds.
MF170181 - Homo sapiens truncated methylmalonyl-CoA mutase variant c.1420C>T (MUT) mRNA, complete cds.
MF170182 - Homo sapiens methylmalonyl-CoA mutase variant c.1495G>A (MUT) mRNA, complete cds.
MF170183 - Homo sapiens methylmalonyl-CoA mutase variant c.2011A>G (MUT) mRNA, complete cds.
MF170184 - Homo sapiens methylmalonyl-CoA mutase variant c.2150G>T (MUT) mRNA, complete cds.
MF170185 - Homo sapiens truncated methylmalonyl-CoA mutase variant c.2179C>T (MUT) mRNA, complete cds.
MF170186 - Homo sapiens methylmalonyl-CoA mutase c.*51C>G variant (MUT) mRNA, complete cds.
MF170187 - Homo sapiens methylmalonyl-CoA mutase c.*192delA variant (MUT) mRNA, complete cds.
M65131 - Human methylmalonyl-CoA mutase (MCM) mRNA, complete cds.
BX647789 - Homo sapiens mRNA; cDNA DKFZp686K0186 (from clone DKFZp686K0186).
AB208845 - Homo sapiens mRNA for methylmalonyl Coenzyme A mutase precursor variant protein.
AK292568 - Homo sapiens cDNA FLJ78010 complete cds, highly similar to Homo sapiens methylmalonyl Coenzyme A mutase, mRNA.
BC016282 - Homo sapiens methylmalonyl Coenzyme A mutase, mRNA (cDNA clone MGC:9002 IMAGE:3908548), complete cds.
AK312611 - Homo sapiens cDNA, FLJ92992, highly similar to Homo sapiens methylmalonyl Coenzyme A mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.
BT007434 - Homo sapiens methylmalonyl Coenzyme A mutase mRNA, complete cds.
KU178201 - Homo sapiens methylmalonyl CoA mutase isoform 1 (MUT) mRNA, partial cds.
KU178202 - Homo sapiens methylmalonyl CoA mutase isoform 2 (MUT) mRNA, complete cds, alternatively spliced.
KF030882 - Homo sapiens methylmalonyl-CoA mutase (MUT) mRNA, partial cds.
MP564101 - Sequence 1 from Patent WO2020056294.
JD333978 - Sequence 315002 from Patent EP1572962.
JD516079 - Sequence 497103 from Patent EP1572962.
JD036467 - Sequence 17491 from Patent EP1572962.
JD347993 - Sequence 329017 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00280 - Valine, leucine and isoleucine degradation
hsa00640 - Propanoate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PROPIONMET-PWY - methylmalonyl pathway
PWY-5328 - superpathway of methionine degradation
PWY3DJ-0 - isoleucine degradation
PWY3DJ-86 - valine degradation

Reactome (by CSHL, EBI, and GO)

Protein P22033 (Reactome details) participates in the following event(s):

R-HSA-3159259 MMAA:MUT binds AdoCbl
R-HSA-71010 MUT isomerises L-MM-CoA to SUCC-CoA
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359475 Defective MMAA causes methylmalonic aciduria type cblA
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-3296469 Defects in cobalamin (B12) metabolism
R-HSA-71032 Propionyl-CoA catabolism
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-3296482 Defects in vitamin and cofactor metabolism
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728 Metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-8978868 Fatty acid metabolism
R-HSA-1643685 Disease
R-HSA-556833 Metabolism of lipids

-  Other Names for This Gene
  Alternate Gene Symbols: A8K953, MUT, MUTA_HUMAN, NM_000255, NP_000246, P22033, Q5SYZ3, Q96B11, Q9UD64
UCSC ID: uc003ozg.4
RefSeq Accession: NM_000255
Protein: P22033 (aka MUTA_HUMAN)
CCDS: CCDS4924.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MMUT:
dystonia-ov (Hereditary Dystonia Overview)
mma (Isolated Methylmalonic Acidemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000255.3
exon count: 13CDS single in 3' UTR: no RNA size: 3886
ORF size: 2253CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4649.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.