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Protein

Methylmalonyl-CoA mutase, mitochondrial

Gene

MUT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 activityi

(R)-methylmalonyl-CoA = succinyl-CoA.1 Publication

Cofactori

Kineticsi

  1. KM=4.7 nM for adenosylcob(III)alamin1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi627Cobalt (cobalamin axial ligand)By similarity1

    GO - Molecular functioni

    • cobalamin binding Source: UniProtKB-KW
    • metal ion binding Source: UniProtKB-KW
    • methylmalonyl-CoA mutase activity Source: ProtInc
    • modified amino acid binding Source: UniProtKB

    GO - Biological processi

    Complete GO annotation...

    Keywordsi

    Molecular functionIsomerase
    LigandCobalamin, Cobalt, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07322-MONOMER.
    ZFISH:HS07322-MONOMER.
    BRENDAi5.4.99.2. 2681.
    ReactomeiR-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-RKP22033.

    Chemistry databases

    SwissLipidsiSLP:000001254.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial (EC:5.4.99.21 Publication)
    Short name:
    MCM
    Alternative name(s):
    Methylmalonyl-CoA isomerase
    Gene namesi
    Name:MUT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:7526. MUT.

    Subcellular locationi

    GO - Cellular componenti

    • mitochondrial matrix Source: Reactome
    • mitochondrion Source: ProtInc

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria type mut (MMAM)21 Publications
    The disease is caused by mutations 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.
    See also OMIM:251000
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02347269I → V in MMAM. Corresponds to variant dbSNP:rs1159235563 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7693480602 PublicationsEnsembl.1
    Natural variantiVAR_02659387G → E in MMAM; mut0. 1 Publication1
    Natural variantiVAR_00440993R → H in MMAM; mut0. Corresponds to variant dbSNP:rs1219182513 PublicationsEnsembl.1
    Natural variantiVAR_02659494G → R in MMAM; mut0. Corresponds to variant dbSNP:rs7275040221 PublicationEnsembl.1
    Natural variantiVAR_02239394G → V in MMAM; mut- and mut0. Corresponds to variant dbSNP:rs5354114182 PublicationsEnsembl.1
    Natural variantiVAR_02659595P → R in MMAM; mut0. 1 Publication1
    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. Corresponds to variant dbSNP:rs8643097352 PublicationsEnsembl.1
    Natural variantiVAR_004410105W → R in MMAM; mut0. Corresponds to variant dbSNP:rs1219182492 PublicationsEnsembl.1
    Natural variantiVAR_026596108R → C in MMAM; mut0. Corresponds to variant dbSNP:rs1219182572 PublicationsEnsembl.1
    Natural variantiVAR_026597108R → G in MMAM; mut-. 1 Publication1
    Natural variantiVAR_022394108R → H in MMAM; mut0. Corresponds to variant dbSNP:rs4833527783 PublicationsEnsembl.1
    Natural variantiVAR_023473109Q → R in MMAM; mut0. 2 Publications1
    Natural variantiVAR_075380110Y → C in MMAM. Corresponds to variant dbSNP:rs7960520051 PublicationEnsembl.1
    Natural variantiVAR_077210126N → K in MMAM. 1 Publication1
    Natural variantiVAR_077211133G → R in MMAM; mut0; decreased protein abundance. 1 Publication1
    Natural variantiVAR_075381137A → G in MMAM. 1 Publication1
    Natural variantiVAR_022395137A → V in MMAM; mut0. 2 Publications1
    Natural variantiVAR_077212139D → N in MMAM; unknown pathological significance. 1 Publication1
    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 Publications1
    Natural variantiVAR_022397156D → N in MMAM; mut-. 1 Publication1
    Natural variantiVAR_077213156D → V in MMAM. 1 Publication1
    Natural variantiVAR_022398158G → V in MMAM; mut0. 1 Publication1
    Natural variantiVAR_077214161G → R in MMAM; decreased protein abundance. 2 Publications1
    Natural variantiVAR_022399174F → S in MMAM; mut0. Corresponds to variant dbSNP:rs8643097333 PublicationsEnsembl.1
    Natural variantiVAR_026599186M → V in MMAM; mut-. Corresponds to variant dbSNP:rs1483318001 PublicationEnsembl.1
    Natural variantiVAR_077215187T → S in MMAM; mut0. 1 Publication1
    Natural variantiVAR_077216189N → I in MMAM; mut-. 1 Publication1
    Natural variantiVAR_026600189N → K in MMAM; mut-. 1 Publication1
    Natural variantiVAR_004411191A → E in MMAM; mut- and mut0; affects proper folding; reduced protein level. Corresponds to variant dbSNP:rs7607823997 PublicationsEnsembl.1
    Natural variantiVAR_026601197A → E in MMAM; mut0. 1 Publication1
    Natural variantiVAR_022400203G → R in MMAM; mut0; decreased protein abundance. Corresponds to variant dbSNP:rs7787027775 PublicationsEnsembl.1
    Natural variantiVAR_077217205Missing in MMAM; mut0. 1 Publication1
    Natural variantiVAR_026602215G → C in MMAM; mut- and mut0. 1 Publication1
    Natural variantiVAR_022401215G → S in MMAM; mut0. Corresponds to variant dbSNP:rs1219182583 PublicationsEnsembl.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 Publications1
    Natural variantiVAR_022403219N → Y in MMAM; mut0; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity. Corresponds to variant dbSNP:rs1219182567 PublicationsEnsembl.1
    Natural variantiVAR_004412228R → Q in MMAM; mut0. Corresponds to variant dbSNP:rs7708109872 PublicationsEnsembl.1
    Natural variantiVAR_026603230T → I in MMAM; mut-. 1 Publication1
    Natural variantiVAR_077218230T → R in MMAM; mut0; decreased protein abundance. 1 Publication1
    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. Corresponds to variant dbSNP:rs8643097364 PublicationsEnsembl.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 Publication1
    Natural variantiVAR_026605281L → S in MMAM; mut0. Corresponds to variant dbSNP:rs7960520071 PublicationEnsembl.1
    Natural variantiVAR_077220284G → E in MMAM; mut0. 1 Publication1
    Natural variantiVAR_077221284G → R in MMAM; mut0. 1 Publication1
    Natural variantiVAR_075383288S → P in MMAM; mut0; decreased protein abundance. 2 Publications1
    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. 3 Publications1
    Natural variantiVAR_026608306S → F in MMAM; mut0. 1 Publication1
    Natural variantiVAR_004414312G → V in MMAM; mut0. Corresponds to variant dbSNP:rs8643097342 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7814742002 PublicationsEnsembl.1
    Natural variantiVAR_023474324A → T in MMAM; mut-. 2 Publications1
    Natural variantiVAR_077222325G → D in MMAM. 1 Publication1
    Natural variantiVAR_077223326R → K in MMAM; unknown pathological significance. 1 Publication1
    Natural variantiVAR_022406328L → F in MMAM; mut0; affects proper folding; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity. Corresponds to variant dbSNP:rs7960520024 PublicationsEnsembl.1
    Natural variantiVAR_023475328L → P in MMAM; mut0. 2 Publications1
    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 Publication1
    Natural variantiVAR_077224358L → P in MMAM; mut0. 1 Publication1
    Natural variantiVAR_075385364Y → S in MMAM. Corresponds to variant dbSNP:rs5637764131 PublicationEnsembl.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. Corresponds to variant dbSNP:rs8643097372 PublicationsEnsembl.1
    Natural variantiVAR_004416368V → D in MMAM. 1
    Natural variantiVAR_026612369R → C in MMAM; mut0. Corresponds to variant dbSNP:rs7725528982 PublicationsEnsembl.1
    Natural variantiVAR_004417369R → H in MMAM; mut- and mut0; no effect on protein abundance; loss of methylmalonyl-CoA mutase activity; alters thermodynamic stability. Corresponds to variant dbSNP:rs5640692994 PublicationsEnsembl.1
    Natural variantiVAR_026613370T → P in MMAM; mut0. Corresponds to variant dbSNP:rs3687908851 PublicationEnsembl.1
    Natural variantiVAR_004418377A → E in MMAM; mut0; decreased protein abundance. Corresponds to variant dbSNP:rs1219182503 PublicationsEnsembl.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 Publication1
    Natural variantiVAR_077225386H → R in MMAM; mut0. 1 Publication1
    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 Publication1
    Natural variantiVAR_077226388N → K in MMAM; mut0; decreased protein abundance. 1 Publication1
    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. 1 Publication1
    Natural variantiVAR_077228426G → E in MMAM; mut-; decreased protein abundance. 1 Publication1
    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. Corresponds to variant dbSNP:rs7699222442 PublicationsEnsembl.1
    Natural variantiVAR_026621427G → D in MMAM; mut0. Corresponds to variant dbSNP:rs7532883031 PublicationEnsembl.1
    Natural variantiVAR_075388454G → E in MMAM; mut0. 2 Publications1
    Natural variantiVAR_075389514Q → E in MMAM; unknown pathological significance. 1 Publication1
    Natural variantiVAR_026622518L → P in MMAM; mut0. Corresponds to variant dbSNP:rs8643097381 PublicationEnsembl.1
    Natural variantiVAR_022408535A → P in MMAM; mut0. Corresponds to variant dbSNP:rs7601837751 PublicationEnsembl.1
    Natural variantiVAR_077229552A → V in MMAM; unknown pathological significance. 1 Publication1
    Natural variantiVAR_026623560C → Y in MMAM; mut0. 1 Publication1
    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 decreased of methylmalonyl-CoA mutase activity; decreased affinity for adenosylcob(III)alamin; does not alter thermodynamic stability. Corresponds to variant dbSNP:rs7755931462 PublicationsEnsembl.1
    Natural variantiVAR_022409587Y → C in MMAM; mut-. 1 Publication1
    Natural variantiVAR_075390615P → L in MMAM; mut0; affects proper folding; reduced strongly protein level. 2 Publications1
    Natural variantiVAR_026626615P → R in MMAM; mut0. 1 Publication1
    Natural variantiVAR_022410615P → T in MMAM; mut0; affects proper folding; reduced strongly protein level. 4 Publications1
    Natural variantiVAR_023476616R → C in MMAM; mut0. Corresponds to variant dbSNP:rs7652848253 PublicationsEnsembl.1
    Natural variantiVAR_023477617L → R in MMAM. 2 Publications1
    Natural variantiVAR_077230618L → P in MMAM. 1 Publication1
    Natural variantiVAR_022411621K → N in MMAM; mut0. 1 Publication1
    Natural variantiVAR_004420623G → R in MMAM; mut0. Corresponds to variant dbSNP:rs1219182544 PublicationsEnsembl.1
    Natural variantiVAR_022412624Q → R in MMAM; no effect on protein abundance. Corresponds to variant dbSNP:rs7685219562 PublicationsEnsembl.1
    Natural variantiVAR_077231625D → G in MMAM; mut0; decreased protein abundance. 1 Publication1
    Natural variantiVAR_075391625D → V in MMAM; unknown pathological significance; no effect on protein abundance. 2 Publications1
    Natural variantiVAR_004421626G → C in MMAM; mut-. 1 Publication1
    Natural variantiVAR_022413627H → R in MMAM; mut0. Corresponds to variant dbSNP:rs3724863572 PublicationsEnsembl.1
    Natural variantiVAR_004422630G → E in MMAM; mut0. Corresponds to variant dbSNP:rs1430230663 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs2000554284 PublicationsEnsembl.1
    Natural variantiVAR_022414637G → E in MMAM; mut-. 1 Publication1
    Natural variantiVAR_026627637G → R in MMAM; mut0. Corresponds to variant dbSNP:rs7815010041 PublicationEnsembl.1
    Natural variantiVAR_022415638F → I in MMAM; mut0. 1 Publication1
    Natural variantiVAR_022416640D → Y in MMAM; mut0. Corresponds to variant dbSNP:rs8658153951 PublicationEnsembl.1
    Natural variantiVAR_022417642G → R in MMAM; mut-. Corresponds to variant dbSNP:rs7478973322 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7667218112 PublicationsEnsembl.1
    Natural variantiVAR_004425669V → E in MMAM; mut0. 1
    Natural variantiVAR_075392674L → F in MMAM; decreased protein abundance. 2 Publications1
    Natural variantiVAR_004427678H → R in MMAM; mut-. Corresponds to variant dbSNP:rs1470949272 PublicationsEnsembl.1
    Natural variantiVAR_004428684E → EL in MMAM; mut-. 1 Publication1
    Natural variantiVAR_004429685L → R in MMAM; mut-. Corresponds to variant dbSNP:rs8643097392 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7777589037 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs1406007464 PublicationsEnsembl.1
    Natural variantiVAR_004431703G → R in MMAM; mut0. Corresponds to variant dbSNP:rs1219182552 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs1219182526 PublicationsEnsembl.1
    Natural variantiVAR_077232736L → F in MMAM. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi4594.
    MalaCardsiMUT.
    MIMi251000. phenotype.
    OpenTargetsiENSG00000146085.
    Orphaneti79312. Vitamin B12-unresponsive methylmalonic acidemia type mut-.
    289916. Vitamin B12-unresponsive methylmalonic acidemia type mut0.
    PharmGKBiPA31327.

    Chemistry databases

    DrugBankiDB00115. Cyanocobalamin.
    DB00200. Hydroxocobalamin.

    Polymorphism and mutation databases

    BioMutaiMUT.
    DMDMi317373575.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 32MitochondrionAdd BLAST32
    ChainiPRO_000001929333 – 750Methylmalonyl-CoA mutase, mitochondrialAdd BLAST718

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    EPDiP22033.
    MaxQBiP22033.
    PaxDbiP22033.
    PeptideAtlasiP22033.
    PRIDEiP22033.

    PTM databases

    iPTMnetiP22033.
    PhosphoSitePlusiP22033.

    Expressioni

    Gene expression databases

    BgeeiENSG00000146085.
    CleanExiHS_MUT.
    ExpressionAtlasiP22033. baseline and differential.
    GenevisibleiP22033. HS.

    Organism-specific databases

    HPAiHPA035971.
    HPA035972.

    Interactioni

    Subunit structurei

    Homodimer.

    Protein-protein interaction databases

    BioGridi110680. 13 interactors.
    IntActiP22033. 3 interactors.
    MINTiMINT-3009603.
    STRINGi9606.ENSP00000274813.

    Structurei

    Secondary structure

    1750
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Helixi30 – 33Combined sources4
    Helixi41 – 50Combined sources10
    Turni51 – 53Combined sources3
    Helixi56 – 59Combined sources4
    Helixi75 – 78Combined sources4
    Beta strandi95 – 98Combined sources4
    Beta strandi101 – 103Combined sources3
    Beta strandi106 – 111Combined sources6
    Helixi116 – 128Combined sources13
    Beta strandi133 – 136Combined sources4
    Helixi140 – 143Combined sources4
    Helixi151 – 153Combined sources3
    Turni154 – 159Combined sources6
    Beta strandi160 – 162Combined sources3
    Helixi167 – 173Combined sources7
    Turni174 – 176Combined sources3
    Turni179 – 181Combined sources3
    Beta strandi183 – 186Combined sources4
    Helixi192 – 205Combined sources14
    Helixi210 – 212Combined sources3
    Beta strandi214 – 217Combined sources4
    Helixi222 – 226Combined sources5
    Helixi235 – 252Combined sources18
    Beta strandi259 – 262Combined sources4
    Helixi264 – 269Combined sources6
    Helixi273 – 293Combined sources21
    Helixi298 – 301Combined sources4
    Helixi302 – 304Combined sources3
    Beta strandi307 – 311Combined sources5
    Helixi315 – 337Combined sources23
    Helixi342 – 345Combined sources4
    Beta strandi349 – 353Combined sources5
    Beta strandi360 – 362Combined sources3
    Helixi365 – 379Combined sources15
    Beta strandi383 – 386Combined sources4
    Turni390 – 394Combined sources5
    Helixi399 – 415Combined sources17
    Helixi418 – 420Combined sources3
    Beta strandi421 – 423Combined sources3
    Turni424 – 427Combined sources4
    Helixi429 – 451Combined sources23
    Helixi455 – 461Combined sources7
    Helixi463 – 481Combined sources19
    Beta strandi482 – 484Combined sources3
    Turni487 – 489Combined sources3
    Beta strandi490 – 492Combined sources3
    Helixi508 – 524Combined sources17
    Helixi527 – 543Combined sources17
    Helixi548 – 557Combined sources10
    Helixi562 – 573Combined sources12
    Helixi586 – 591Combined sources6
    Helixi595 – 611Combined sources17
    Beta strandi616 – 620Combined sources5
    Helixi629 – 640Combined sources12
    Beta strandi644 – 647Combined sources4
    Helixi654 – 663Combined sources10
    Beta strandi667 – 673Combined sources7
    Helixi678 – 691Combined sources14
    Beta strandi697 – 704Combined sources8
    Helixi707 – 709Combined sources3
    Helixi710 – 716Combined sources7
    Beta strandi720 – 722Combined sources3
    Helixi728 – 744Combined sources17

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2XIJX-ray1.95A12-750[»]
    2XIQX-ray1.95A/B12-750[»]
    3BICX-ray2.60A/B12-750[»]
    ProteinModelPortaliP22033.
    SMRiP22033.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP22033.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini614 – 746B12-bindingPROSITE-ProRule annotationAdd BLAST133

    Sequence similaritiesi

    Belongs to the methylmalonyl-CoA mutase family.Curated
    Contains 1 B12-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiENOG410IE7I. Eukaryota.
    COG1884. LUCA.
    COG2185. LUCA.
    GeneTreeiENSGT00390000011892.
    HOGENOMiHOG000003917.
    HOVERGENiHBG006423.
    InParanoidiP22033.
    KOiK01847.
    OMAiGVNKYRP.
    OrthoDBiEOG091G02GM.
    PhylomeDBiP22033.
    TreeFamiTF313557.

    Family and domain databases

    Gene3Di3.20.20.240. 1 hit.
    3.40.50.280. 1 hit.
    InterProiIPR006159. 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.
    [Graphical view]
    PfamiPF02310. B12-binding. 1 hit.
    PF01642. MM_CoA_mutase. 1 hit.
    [Graphical view]
    SUPFAMiSSF51703. SSF51703. 1 hit.
    SSF52242. SSF52242. 1 hit.
    TIGRFAMsiTIGR00640. acid_CoA_mut_C. 1 hit.
    TIGR00641. acid_CoA_mut_N. 1 hit.
    PROSITEiPS51332. B12_BINDING. 1 hit.
    PS00544. METMALONYL_COA_MUTASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P22033-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ
    60 70 80 90 100
    LKGKNPEDLI WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY
    110 120 130 140 150
    TFRPWTIRQY AGFSTVEESN KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN
    160 170 180 190 200
    PRVRGDVGMA GVAIDTVEDT KILFDGIPLE KMSVSMTMNG AVIPVLANFI
    210 220 230 240 250
    VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK IIADIFEYTA
    260 270 280 290 300
    KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE
    310 320 330 340 350
    FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH
    360 370 380 390 400
    CQTSGWSLTE QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK
    410 420 430 440 450
    SARIARNTQI IIQEESGIPK VADPWGGSYM MECLTNDVYD AALKLINEIE
    460 470 480 490 500
    EMGGMAKAVA EGIPKLRIEE CAARRQARID SGSEVIVGVN KYQLEKEDAV
    510 520 530 540 550
    EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC AASGDGNILA
    560 570 580 590 600
    LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA
    610 620 630 640 650
    IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL
    660 670 680 690 700
    FQTPREVAQQ AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM
    710 720 730 740 750
    CGGVIPPQDY EFLFEVGVSN VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV
    Length:750
    Mass (Da):83,134
    Last modified:January 11, 2011 - v4
    Checksum:iB5909729C08B562F
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti153V → L in AAA99226 (PubMed:1980486).Curated1
    Sequence conflicti236E → D in AAA99226 (PubMed:1980486).Curated1
    Sequence conflicti274 – 277ILEL → FWSW in AAA99226 (PubMed:1980486).Curated4
    Sequence conflicti316Y → H in AAA99226 (PubMed:1980486).Curated1
    Sequence conflicti505I → T in AAA99226 (PubMed:1980486).Curated1
    Sequence conflicti516E → G in AAA99226 (PubMed:1980486).Curated1
    Sequence conflicti591F → Y in AAA99226 (PubMed:1980486).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02347269I → V in MMAM. Corresponds to variant dbSNP:rs1159235563 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs7693480602 PublicationsEnsembl.1
    Natural variantiVAR_02659387G → E in MMAM; mut0. 1 Publication1
    Natural variantiVAR_00440993R → H in MMAM; mut0. Corresponds to variant dbSNP:rs1219182513 PublicationsEnsembl.1
    Natural variantiVAR_02659494G → R in MMAM; mut0. Corresponds to variant dbSNP:rs7275040221 PublicationEnsembl.1
    Natural variantiVAR_02239394G → V in MMAM; mut- and mut0. Corresponds to variant dbSNP:rs5354114182 PublicationsEnsembl.1
    Natural variantiVAR_02659595P → R in MMAM; mut0. 1 Publication1
    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. Corresponds to variant dbSNP:rs8643097352 PublicationsEnsembl.1
    Natural variantiVAR_004410105W → R in MMAM; mut0. Corresponds to variant dbSNP:rs1219182492 PublicationsEnsembl.1
    Natural variantiVAR_026596108R → C in MMAM; mut0. Corresponds to variant dbSNP:rs1219182572 PublicationsEnsembl.1
    Natural variantiVAR_026597108R → G in MMAM; mut-. 1 Publication1
    Natural variantiVAR_022394108R → H in MMAM; mut0. Corresponds to variant dbSNP:rs4833527783 PublicationsEnsembl.1
    Natural variantiVAR_023473109Q → R in MMAM; mut0. 2 Publications1
    Natural variantiVAR_075380110Y → C in MMAM. Corresponds to variant dbSNP:rs7960520051 PublicationEnsembl.1
    Natural variantiVAR_077210126N → K in MMAM. 1 Publication1
    Natural variantiVAR_077211133G → R in MMAM; mut0; decreased protein abundance. 1 Publication1
    Natural variantiVAR_075381137A → G in MMAM. 1 Publication1
    Natural variantiVAR_022395137A → V in MMAM; mut0. 2 Publications1
    Natural variantiVAR_077212139D → N in MMAM; unknown pathological significance. 1 Publication1
    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 Publications1
    Natural variantiVAR_022397156D → N in MMAM; mut-. 1 Publication1
    Natural variantiVAR_077213156D → V in MMAM. 1 Publication1
    Natural variantiVAR_022398158G → V in MMAM; mut0. 1 Publication1
    Natural variantiVAR_077214161G → R in MMAM; decreased protein abundance. 2 Publications1
    Natural variantiVAR_022399174F → S in MMAM; mut0. Corresponds to variant dbSNP:rs8643097333 Publications