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Entry version 216 (07 Apr 2021)
Sequence version 4 (11 Jan 2011)
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Protein

Methylmalonyl-CoA mutase, mitochondrial

Gene

MMUT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle.10 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

adenosylcob(III)alamin4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

During catalysis, accumulation of oxidized inactive cofactor hydroxocobalamin (OH2Cbl) leads to loss of MMUT activity (PubMed:21138732, PubMed:28943303). Interaction with MMAA decreases the rate of OH2Cbl formation and promotes the replacement of OH2Cbl by the active cofactor adenosylcobalamin (AdoCbl), thereby restoring MMUT activity (PubMed:21138732, PubMed:28943303). Inhibited by itaconyl-CoA, a metabolite that inactivates the coenzyme B12 cofactor (PubMed:29056341). Inhibited at high concentration of substrate (PubMed:28943303).2 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=4.7 nM for adenosylcob(III)alamin1 Publication
  2. KM=0.24 µM for adenosylcob(III)alamin1 Publication
  3. KM=0.35 mM for methylmalonyl-CoA1 Publication
  4. KM=76.15 µM for methylmalonyl-CoA1 Publication
  5. KM=23.19 µM for methylmalonyl-CoA (in the presence of methylmalonic aciduria type A protein/MMAA and GTP)1 Publication
  1. Vmax=9.06 µmol/min/mg enzyme for methylmalonyl-CoA1 Publication
  2. Vmax=4.83 µmol/min/mg enzyme for methylmalonyl-CoA in the presence of methylmalonic aciduria type A protein/MMAA and GTP1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei50malonyl-CoA1 Publication1
Binding sitei228malonyl-CoA1 Publication1
Binding sitei255malonyl-CoA1 Publication1
Binding sitei265malonyl-CoA1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi627Cobalt (cobalamin 2 axial ligand)1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
LigandCobalamin, Cobalt, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07322-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
5.4.99.2, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P22033

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-196741, Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359475, Defective MMAA causes methylmalonic aciduria type cblA
R-HSA-3359478, Defective MUT causes methylmalonic aciduria mut type
R-HSA-71032, Propionyl-CoA catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P22033

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000001254

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Methylmalonyl-CoA mutase, mitochondrialCurated (EC:5.4.99.27 Publications)
Short name:
MCM
Alternative name(s):
Methylmalonyl-CoA isomerase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MMUTImported
Synonyms:MUTImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7526, MMUT

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609058, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P22033

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000146085.7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Methylmalonic aciduria type mut (MMAM)23 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0800317 – 750Missing in MMAM; mut-. 1 PublicationAdd BLAST744
Natural variantiVAR_02347269I → V in MMAM; likely benign variant. 3 PublicationsCorresponds to variant dbSNP:rs115923556EnsemblClinVar.1
Natural variantiVAR_02659286P → L in MMAM; mut0 and mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs769348060EnsemblClinVar.1
Natural variantiVAR_02659387G → E in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1554160986EnsemblClinVar.1
Natural variantiVAR_00440993R → H in MMAM; mut0; decreased methylmalonyl-CoA mutase activity. 4 PublicationsCorresponds to variant dbSNP:rs121918251EnsemblClinVar.1
Natural variantiVAR_02659494G → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs727504022EnsemblClinVar.1
Natural variantiVAR_02239394G → V in MMAM; mut- and mut0. 2 PublicationsCorresponds to variant dbSNP:rs535411418EnsemblClinVar.1
Natural variantiVAR_02659595P → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs190834116EnsemblClinVar.1
Natural variantiVAR_075379100Y → C in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs864309735EnsemblClinVar.1
Natural variantiVAR_004410105W → R in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs121918249EnsemblClinVar.1
Natural variantiVAR_026596108R → C in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs121918257EnsemblClinVar.1
Natural variantiVAR_026597108R → G in MMAM; mut-. 1 Publication1
Natural variantiVAR_022394108R → H in MMAM; mut0. 3 PublicationsCorresponds to variant dbSNP:rs483352778EnsemblClinVar.1
Natural variantiVAR_023473109Q → R in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs1461110052Ensembl.1
Natural variantiVAR_075380110Y → C in MMAM. 1 PublicationCorresponds to variant dbSNP:rs796052005EnsemblClinVar.1
Natural variantiVAR_077210126N → K in MMAM. 1 PublicationCorresponds to variant dbSNP:rs879253827EnsemblClinVar.1
Natural variantiVAR_077211133G → R in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs879253828EnsemblClinVar.1
Natural variantiVAR_075381137A → G in MMAM. 1 PublicationCorresponds to variant dbSNP:rs941483851EnsemblClinVar.1
Natural variantiVAR_022395137A → V in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs941483851EnsemblClinVar.1
Natural variantiVAR_077212139D → N in MMAM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253829EnsemblClinVar.1
Natural variantiVAR_078342140L → P in MMAM; decreased protein expression; decreased methylmalonyl-CoA mutase activity. 2 Publications1
Natural variantiVAR_078343141A → T in MMAM; decreased protein expression. 1 PublicationCorresponds to variant dbSNP:rs1554160730EnsemblClinVar.1
Natural variantiVAR_075382143H → Y in MMAM; mut0. 1 Publication1
Natural variantiVAR_026598145G → S in MMAM; mut0. 1 Publication1
Natural variantiVAR_022396148S → L in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs1300547552Ensembl.1
Natural variantiVAR_080032152 – 750Missing in MMAM; mut0. 1 PublicationAdd BLAST599
Natural variantiVAR_022397156D → N in MMAM; mut-. 1 Publication1
Natural variantiVAR_077213156D → V in MMAM. 1 PublicationCorresponds to variant dbSNP:rs757000253EnsemblClinVar.1
Natural variantiVAR_022398158G → V in MMAM; mut0. 1 Publication1
Natural variantiVAR_077214161G → R in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 2 Publications1
Natural variantiVAR_078344161G → V in MMAM; decreased protein expression. 1 Publication1
Natural variantiVAR_022399174F → S in MMAM; mut0. 3 PublicationsCorresponds to variant dbSNP:rs864309733EnsemblClinVar.1
Natural variantiVAR_026599186M → V in MMAM; mut-. 1 PublicationCorresponds to variant dbSNP:rs148331800EnsemblClinVar.1
Natural variantiVAR_077215187T → S in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs879253830EnsemblClinVar.1
Natural variantiVAR_077216189N → I in MMAM; mut-; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs200908035EnsemblClinVar.1
Natural variantiVAR_026600189N → K in MMAM; mut-. 1 PublicationCorresponds to variant dbSNP:rs1561959114EnsemblClinVar.1
Natural variantiVAR_004411191A → E in MMAM; mut- and mut0; affects proper folding; reduced protein level; decreased methylmalonyl-CoA mutase activity. 8 PublicationsCorresponds to variant dbSNP:rs760782399EnsemblClinVar.1
Natural variantiVAR_026601197A → E in MMAM; mut0. 1 Publication1
Natural variantiVAR_022400203G → R in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 6 PublicationsCorresponds to variant dbSNP:rs778702777EnsemblClinVar.1
Natural variantiVAR_077217205Missing in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs879253831Ensembl.1
Natural variantiVAR_026602215G → C in MMAM; mut- and mut0. 1 PublicationCorresponds to variant dbSNP:rs121918258EnsemblClinVar.1
Natural variantiVAR_022401215G → S in MMAM; mut0. 3 PublicationsCorresponds to variant dbSNP:rs121918258EnsemblClinVar.1
Natural variantiVAR_022402218Q → H in MMAM; mut0 and mut-; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; alters thermodynamic stability. 4 PublicationsCorresponds to variant dbSNP:rs1446389693EnsemblClinVar.1
Natural variantiVAR_022403219N → Y in MMAM; mut0; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity. 8 PublicationsCorresponds to variant dbSNP:rs121918256EnsemblClinVar.1
Natural variantiVAR_080033228 – 750Missing in MMAM; mut0. 1 PublicationAdd BLAST523
Natural variantiVAR_004412228R → Q in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs770810987Ensembl.1
Natural variantiVAR_026603230T → I in MMAM; mut-. 1 Publication1
Natural variantiVAR_077218230T → R in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs879253833EnsemblClinVar.1
Natural variantiVAR_004413231Y → N in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; strong decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 5 PublicationsCorresponds to variant dbSNP:rs864309736EnsemblClinVar.1
Natural variantiVAR_022404262S → N in MMAM; mut0. 2 Publications1
Natural variantiVAR_026604265H → Y in MMAM; mut-. 1 Publication1
Natural variantiVAR_077219276E → D in MMAM; mut-; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs12175488EnsemblClinVar.1
Natural variantiVAR_026605281L → S in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs796052007EnsemblClinVar.1
Natural variantiVAR_077220284G → E in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs879253835EnsemblClinVar.1
Natural variantiVAR_077221284G → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs761477436EnsemblClinVar.1
Natural variantiVAR_075383288S → P in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1179778233Ensembl.1
Natural variantiVAR_026606291G → E in MMAM; mut0. 1 Publication1
Natural variantiVAR_022405293Q → P in MMAM; mut0. 1 Publication1
Natural variantiVAR_026607305L → S in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 3 PublicationsCorresponds to variant dbSNP:rs1554160246EnsemblClinVar.1
Natural variantiVAR_026608306S → F in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1085307929EnsemblClinVar.1
Natural variantiVAR_078345309W → G in MMAM; decreased protein expression. 1 Publication1
Natural variantiVAR_004414312G → V in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs864309734EnsemblClinVar.1
Natural variantiVAR_026609316Y → C in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; no decreased affinity for adenosylcob(III)alamin. 2 PublicationsCorresponds to variant dbSNP:rs781474200EnsemblClinVar.1
Natural variantiVAR_023474324A → T in MMAM; mut-. 3 PublicationsCorresponds to variant dbSNP:rs780387525EnsemblClinVar.1
Natural variantiVAR_077222325G → D in MMAM. 1 PublicationCorresponds to variant dbSNP:rs879253837EnsemblClinVar.1
Natural variantiVAR_077223326R → K in MMAM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758577372EnsemblClinVar.1
Natural variantiVAR_022406328L → F in MMAM; mut0; affects proper folding; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity. 4 PublicationsCorresponds to variant dbSNP:rs796052002EnsemblClinVar.1
Natural variantiVAR_023475328L → P in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs965316043EnsemblClinVar.1
Natural variantiVAR_075384344S → F in MMAM; mut-; affects proper folding; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin. 2 Publications1
Natural variantiVAR_004415346Missing in MMAM; mut0. 2 Publications1
Natural variantiVAR_026610347L → R in MMAM; mut0. 1 Publication1
Natural variantiVAR_026611350H → Y in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1407914109Ensembl.1
Natural variantiVAR_077224358L → P in MMAM; mut0. 1 Publication1
Natural variantiVAR_075385364Y → S in MMAM. 1 PublicationCorresponds to variant dbSNP:rs563776413Ensembl.1
Natural variantiVAR_075386366N → S in MMAM; mut-; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs864309737EnsemblClinVar.1
Natural variantiVAR_004416368V → D in MMAM. 1
Natural variantiVAR_026612369R → C in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs772552898EnsemblClinVar.1
Natural variantiVAR_004417369R → H in MMAM; mut- and mut0; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; alters thermodynamic stability. 4 PublicationsCorresponds to variant dbSNP:rs564069299EnsemblClinVar.1
Natural variantiVAR_026613370T → P in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs368790885EnsemblClinVar.1
Natural variantiVAR_004418377A → E in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918250EnsemblClinVar.1
Natural variantiVAR_026614383Q → H in MMAM; mut0. 1 Publication1
Natural variantiVAR_026615383Q → P in MMAM; mut0. 1 Publication1
Natural variantiVAR_026616386H → N in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1554159937EnsemblClinVar.1
Natural variantiVAR_077225386H → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs866933356Ensembl.1
Natural variantiVAR_075387387T → I in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 3 Publications1
Natural variantiVAR_026617388N → H in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs766010704Ensembl.1
Natural variantiVAR_077226388N → K in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs879253840EnsemblClinVar.1
Natural variantiVAR_026618389Missing in MMAM; mut0. 1 Publication1
Natural variantiVAR_026619412Missing in MMAM; mut0. 1 Publication1
Natural variantiVAR_077227424P → L in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs879253842EnsemblClinVar.1
Natural variantiVAR_077228426G → E in MMAM; mut-; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs533755473EnsemblClinVar.1
Natural variantiVAR_026620426G → R in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; strong decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs769922244Ensembl.1
Natural variantiVAR_026621427G → D in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs753288303EnsemblClinVar.1
Natural variantiVAR_075388454G → E in MMAM; mut0. 2 Publications1
Natural variantiVAR_078346505I → T in MMAM; decreased protein expression; decreased methylmalonyl-CoA mutase activity. 1 Publication1
Natural variantiVAR_075389514Q → E in MMAM; unknown pathological significance. 1 Publication1
Natural variantiVAR_078347514Q → K in MMAM; decreased protein expression. 1 Publication1
Natural variantiVAR_026622518L → P in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs864309738EnsemblClinVar.1
Natural variantiVAR_022408535A → P in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs760183775Ensembl.1
Natural variantiVAR_077229552A → V in MMAM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253845EnsemblClinVar.1
Natural variantiVAR_026623560C → Y in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1238333040EnsemblClinVar.1
Natural variantiVAR_026624566T → R in MMAM; mut0. 1 Publication1
Natural variantiVAR_026625573F → S in MMAM; mut-; affects proper folding; no effect on protein abundance; no effect on methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; does not alter thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs775593146EnsemblClinVar.1
Natural variantiVAR_022409587Y → C in MMAM; mut-. 1 Publication1
Natural variantiVAR_078348597I → R in MMAM; no changed in protein expression; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs1554158951EnsemblClinVar.1
Natural variantiVAR_075390615P → L in MMAM; mut0; affects proper folding; reduced strongly protein level. 3 Publications1
Natural variantiVAR_026626615P → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs1554158777EnsemblClinVar.1
Natural variantiVAR_022410615P → T in MMAM; mut0; affects proper folding; reduced strongly protein level; loss of methylmalonyl-CoA mutase activity. 5 PublicationsCorresponds to variant dbSNP:rs1302409621Ensembl.1
Natural variantiVAR_023476616R → C in MMAM; mut0. 3 PublicationsCorresponds to variant dbSNP:rs765284825EnsemblClinVar.1
Natural variantiVAR_023477617L → R in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs1554158775EnsemblClinVar.1
Natural variantiVAR_077230618L → P in MMAM. 1 PublicationCorresponds to variant dbSNP:rs879253846EnsemblClinVar.1
Natural variantiVAR_022411621K → N in MMAM; mut0. 1 Publication1
Natural variantiVAR_004420623G → R in MMAM; mut0. 4 PublicationsCorresponds to variant dbSNP:rs121918254EnsemblClinVar.1
Natural variantiVAR_022412624Q → R in MMAM; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs768521956Ensembl.1
Natural variantiVAR_077231625D → G in MMAM; mut0; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs879253847EnsemblClinVar.1
Natural variantiVAR_075391625D → V in MMAM; mut0; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity. 2 Publications1
Natural variantiVAR_004421626G → C in MMAM; mut-. 1 PublicationCorresponds to variant dbSNP:rs982110849Ensembl.1
Natural variantiVAR_022413627H → R in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs372486357EnsemblClinVar.1
Natural variantiVAR_004422630G → E in MMAM; mut0. 3 PublicationsCorresponds to variant dbSNP:rs143023066EnsemblClinVar.1
Natural variantiVAR_004423633V → G in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; does not alter thermodynamic stability. 4 PublicationsCorresponds to variant dbSNP:rs200055428EnsemblClinVar.1
Natural variantiVAR_022414637G → E in MMAM; mut-. 1 Publication1
Natural variantiVAR_026627637G → R in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs781501004Ensembl.1
Natural variantiVAR_022415638F → I in MMAM; mut0. 1 Publication1
Natural variantiVAR_022416640D → Y in MMAM; mut0. 1 PublicationCorresponds to variant dbSNP:rs865815395Ensembl.1
Natural variantiVAR_022417642G → R in MMAM; mut-. 2 PublicationsCorresponds to variant dbSNP:rs747897332EnsemblClinVar.1
Natural variantiVAR_004424648G → D in MMAM; mut-; no effect on protein abundance; decreased methylmalonyl-CoA mutase activity; strong decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 2 PublicationsCorresponds to variant dbSNP:rs766721811Ensembl.1
Natural variantiVAR_004425669V → E in MMAM; mut0. Corresponds to variant dbSNP:rs1360470463Ensembl.1
Natural variantiVAR_075392674L → F in MMAM; decreased protein abundance; decreased methylmalonyl-CoA mutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1164271240EnsemblClinVar.1
Natural variantiVAR_004427678H → R in MMAM; mut-. 2 PublicationsCorresponds to variant dbSNP:rs147094927Ensembl.1
Natural variantiVAR_004428684E → EL in MMAM; mut-. 1 Publication1
Natural variantiVAR_004429685L → R in MMAM; mut-. 2 PublicationsCorresponds to variant dbSNP:rs864309739EnsemblClinVar.1
Natural variantiVAR_075393692L → P in MMAM. 1 Publication1
Natural variantiVAR_075394694R → L in MMAM; mut-; decreased protein abundance; loss of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 3 Publications1
Natural variantiVAR_004430694R → W in MMAM; mut- and mut0; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 8 PublicationsCorresponds to variant dbSNP:rs777758903EnsemblClinVar.1
Natural variantiVAR_022418700M → K in MMAM; mut-; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; alters thermodynamic stability. 4 PublicationsCorresponds to variant dbSNP:rs140600746EnsemblClinVar.1
Natural variantiVAR_004431703G → R in MMAM; mut0. 2 PublicationsCorresponds to variant dbSNP:rs121918255EnsemblClinVar.1
Natural variantiVAR_004432717G → V in MMAM; mut-; no effect on protein abundance; interfers with the binding of the cofactor to the apoenzyme; decreased methylmalonyl-CoA mutase activity; strong decreased affinity for adenosylcob(III)alamin; decreased thermodynamic stability. 6 PublicationsCorresponds to variant dbSNP:rs121918252EnsemblClinVar.1
Natural variantiVAR_078349723G → D in MMAM; decreased protein expression; decreased methylmalonyl-CoA mutase activity. 1 PublicationCorresponds to variant dbSNP:rs755077681Ensembl.1
Natural variantiVAR_077232736L → F in MMAM. 1 PublicationCorresponds to variant dbSNP:rs753461919EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

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DisGeNETi
4594

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MMUT

MalaCards human disease database

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MalaCardsi
MMUT
MIMi251000, phenotype

Open Targets

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OpenTargetsi
ENSG00000146085

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
79312, Vitamin B12-unresponsive methylmalonic acidemia type mut-
289916, Vitamin B12-unresponsive methylmalonic acidemia type mut0

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31327

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P22033, Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB00115, Cyanocobalamin
DB00200, Hydroxocobalamin

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MUT

Domain mapping of disease mutations (DMDM)

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DMDMi
317373575

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 32Mitochondrion1 PublicationAdd BLAST32
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001929333 – 750Methylmalonyl-CoA mutase, mitochondrialAdd BLAST718

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei89N6-acetyllysineBy similarity1
Modified residuei212N6-acetyllysineBy similarity1
Modified residuei335N6-acetyllysineBy similarity1
Modified residuei343N6-succinyllysineBy similarity1
Modified residuei481PhosphoserineCombined sources1
Modified residuei595N6-succinyllysineBy similarity1
Modified residuei602N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P22033

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P22033

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P22033

MaxQB - The MaxQuant DataBase

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MaxQBi
P22033

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P22033

PeptideAtlas

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PeptideAtlasi
P22033

PRoteomics IDEntifications database

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PRIDEi
P22033

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
53953

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P22033

MetOSite database of methionine sulfoxide sites

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MetOSitei
P22033

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P22033

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000146085, Expressed in liver and 243 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P22033, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P22033, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000146085, Tissue enhanced (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:20876572).

Interacts (the apoenzyme form) with MMAA; the interaction is GTP dependent (PubMed:20876572, PubMed:21138732, PubMed:28943303).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
110680, 30 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P22033

Protein interaction database and analysis system

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IntActi
P22033, 10 interactors

Molecular INTeraction database

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MINTi
P22033

STRING: functional protein association networks

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STRINGi
9606.ENSP00000274813

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
P22033, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1750
Legend: HelixTurnBeta strandPDB Structure known for this area
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