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Protein

Methylmalonic aciduria type A protein, mitochondrial

Gene

MMAA

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

Functioni

GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572).2 Publications

Catalytic activityi

GTP + H2O = GDP + phosphate.2 Publications

Activity regulationi

GTPase activity is stimulated by MUT.2 Publications

Kineticsi

kcat is 0.201 min(-1) for GTP hydrolysis (PubMed:28497574). kcat is 0.03 min(-1) for GTP hydrolysis (PubMed:20876572).2 Publications
  1. KM=42 µM for GTP1 Publication
  2. KM=330 µM for GTP1 Publication
  3. KM=74 µM for GTP (in presence of MUT)1 Publication

    Pathwayi: adenosylcobalamin biosynthesis

    This protein is involved in the pathway adenosylcobalamin biosynthesis, which is part of Cofactor biosynthesis.2 Publications
    View all proteins of this organism that are known to be involved in the pathway adenosylcobalamin biosynthesis and in Cofactor biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei292GTP1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Nucleotide bindingi150 – 158GTP9
    Nucleotide bindingi328 – 330GTP3

    GO - Molecular functioni

    GO - Biological processi

    • cobalamin biosynthetic process Source: UniProtKB-UniPathway
    • cobalamin metabolic process Source: UniProtKB

    Keywordsi

    Molecular functionChaperone, Hydrolase
    LigandGTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    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
    UniPathwayi
    UPA00148

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonic aciduria type A protein, mitochondrialCurated (EC:3.6.-.-2 Publications)
    Gene namesi
    Name:MMAAImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 4

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000151611.13
    HGNCiHGNC:18871 MMAA
    MIMi607481 gene
    neXtProtiNX_Q8IVH4

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria type cblA (MMAA)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.
    See also OMIM:251100
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08000422 – 418Missing in MMAA. 2 PublicationsAdd BLAST397
    Natural variantiVAR_08000524 – 418Missing in MMAA. 1 PublicationAdd BLAST395
    Natural variantiVAR_08000654 – 418Missing in MMAA. 1 PublicationAdd BLAST365
    Natural variantiVAR_08000768 – 418Missing in MMAA. 1 PublicationAdd BLAST351
    Natural variantiVAR_02083589L → P in MMAA; abolishes protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs864309726EnsemblClinVar.1
    Natural variantiVAR_08000895 – 418Missing in MMAA. 1 PublicationAdd BLAST324
    Natural variantiVAR_08000998R → G in MMAA; decreases protein levels; no effect on binding to GDP; decreases by 55% GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080010100 – 104Missing in MMAA. 1 Publication5
    Natural variantiVAR_080011120 – 418Missing in MMAA. 1 PublicationAdd BLAST299
    Natural variantiVAR_080012129 – 418Missing in MMAA. 1 PublicationAdd BLAST290
    Natural variantiVAR_080013133 – 418Missing in MMAA. 1 PublicationAdd BLAST286
    Natural variantiVAR_080014145 – 418Missing in MMAA. 3 PublicationsAdd BLAST274
    Natural variantiVAR_020836145R → Q in MMAA; highly decreases protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200577967Ensembl.1
    Natural variantiVAR_080015147G → E in MMAA; highly decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080016188G → R in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs864309729EnsemblClinVar.1
    Natural variantiVAR_080017192G → D in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080018196 – 418Missing in MMAA. 1 PublicationAdd BLAST223
    Natural variantiVAR_080019196R → Q in MMAA; unknown pathological significance; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs144389160EnsemblClinVar.1
    Natural variantiVAR_017202207Y → C in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs104893849EnsemblClinVar.1
    Natural variantiVAR_071919209R → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020837218G → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309730EnsemblClinVar.1
    Natural variantiVAR_080020220V → M in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs150376474EnsemblClinVar.1
    Natural variantiVAR_080021241I → F in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080022243T → N in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080023248 – 418Missing in MMAA. 2 PublicationsAdd BLAST171
    Natural variantiVAR_071920250E → K in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080024258D → N in MMAA; highly decreases protein levels. 1 Publication1
    Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
    Natural variantiVAR_071922274G → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; slightly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_071923276K → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080025287A → D in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080026292D → V in MMAA; decreases protein levels; highly decreases binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080027320 – 418Missing in MMAA. 1 PublicationAdd BLAST99
    Natural variantiVAR_080028330 – 418Missing in MMAA. 2 PublicationsAdd BLAST89
    Natural variantiVAR_080029359 – 418Missing in MMAA. 1 PublicationAdd BLAST60
    Natural variantiVAR_038804359R → G in MMAA; decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020838359R → Q in MMAA; decreases protein levels. 3 PublicationsCorresponds to variant dbSNP:rs864309731EnsemblClinVar.1
    Natural variantiVAR_080030399G → V in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi290K → A: Abolishes binding to GTP and GTPase activity; when associated with A-292. 1 Publication1
    Mutagenesisi292D → A: Abolishes binding to GTP and GTPase activity; when associated with A-290. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi166785
    GeneReviewsiMMAA
    MalaCardsiMMAA
    MIMi251100 phenotype
    OpenTargetsiENSG00000151611
    Orphaneti79310 Vitamin B12-responsive methylmalonic acidemia type cblA
    PharmGKBiPA134912808

    Chemistry databases

    DrugBankiDB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin

    Polymorphism and mutation databases

    BioMutaiMMAA
    DMDMi38258173

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 65MitochondrionSequence analysisAdd BLAST65
    ChainiPRO_000000228566 – 418Methylmalonic aciduria type A protein, mitochondrialAdd BLAST353

    Proteomic databases

    EPDiQ8IVH4
    MaxQBiQ8IVH4
    PaxDbiQ8IVH4
    PeptideAtlasiQ8IVH4
    PRIDEiQ8IVH4
    ProteomicsDBi70708

    PTM databases

    iPTMnetiQ8IVH4
    PhosphoSitePlusiQ8IVH4
    SwissPalmiQ8IVH4

    Expressioni

    Tissue specificityi

    Widely expressed. Highest expression is observed in liver and skeletal muscle.

    Gene expression databases

    BgeeiENSG00000151611 Expressed in 194 organ(s), highest expression level in secondary oocyte
    CleanExiHS_MMAA
    ExpressionAtlasiQ8IVH4 baseline and differential
    GenevisibleiQ8IVH4 HS

    Organism-specific databases

    HPAiHPA037361

    Interactioni

    Subunit structurei

    Homodimer (PubMed:20876572). Interacts with MUT (the apoenzyme form); the interaction is GTP dependent (PubMed:20876572, PubMed:28497574).2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi127933, 3 interactors
    IntActiQ8IVH4, 1 interactor
    STRINGi9606.ENSP00000281317

    Structurei

    Secondary structure

    1418
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ8IVH4
    SMRiQ8IVH4
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8IVH4

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiENOG410IFVS Eukaryota
    COG1703 LUCA
    GeneTreeiENSGT00390000009908
    HOVERGENiHBG045588
    InParanoidiQ8IVH4
    KOiK07588
    PhylomeDBiQ8IVH4
    TreeFamiTF313243

    Family and domain databases

    InterProiView protein in InterPro
    IPR005129 GTPase_ArgK
    IPR027417 P-loop_NTPase
    PANTHERiPTHR23408:SF3 PTHR23408:SF3, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    TIGRFAMsiTIGR00750 lao, 1 hit

    Sequence (1+)i

    Sequence statusi: Complete.

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

    This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

    Q8IVH4-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MPMLLPHPHQ HFLKGLLRAP FRCYHFIFHS STHLGSGIPC AQPFNSLGLH
    60 70 80 90 100
    CTKWMLLSDG LKRKLCVQTT LKDHTEGLSD KEQRFVDKLY TGLIQGQRAC
    110 120 130 140 150
    LAEAITLVES THSRKKELAQ VLLQKVLLYH REQEQSNKGK PLAFRVGLSG
    160 170 180 190 200
    PPGAGKSTFI EYFGKMLTER GHKLSVLAVD PSSCTSGGSL LGDKTRMTEL
    210 220 230 240 250
    SRDMNAYIRP SPTRGTLGGV TRTTNEAILL CEGAGYDIIL IETVGVGQSE
    260 270 280 290 300
    FAVADMVDMF VLLLPPAGGD ELQGIKRGII EMADLVAVTK SDGDLIVPAR
    310 320 330 340 350
    RIQAEYVSAL KLLRKRSQVW KPKVIRISAR SGEGISEMWD KMKDFQDLML
    360 370 380 390 400
    ASGELTAKRR KQQKVWMWNL IQESVLEHFR THPTVREQIP LLEQKVLIGA
    410
    LSPGLAADFL LKAFKSRD
    Length:418
    Mass (Da):46,538
    Last modified:March 1, 2003 - v1
    Checksum:iAD9EA19DDB8DEEF8
    GO

    Computationally mapped potential isoform sequencesi

    There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    D6RIS5D6RIS5_HUMAN
    Methylmalonic aciduria type A prote...
    MMAA
    260Annotation score:
    Q495G5Q495G5_HUMAN
    MMAA protein
    MMAA
    424Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08000422 – 418Missing in MMAA. 2 PublicationsAdd BLAST397
    Natural variantiVAR_08000524 – 418Missing in MMAA. 1 PublicationAdd BLAST395
    Natural variantiVAR_08000654 – 418Missing in MMAA. 1 PublicationAdd BLAST365
    Natural variantiVAR_08000768 – 418Missing in MMAA. 1 PublicationAdd BLAST351
    Natural variantiVAR_02083589L → P in MMAA; abolishes protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs864309726EnsemblClinVar.1
    Natural variantiVAR_08000895 – 418Missing in MMAA. 1 PublicationAdd BLAST324
    Natural variantiVAR_08000998R → G in MMAA; decreases protein levels; no effect on binding to GDP; decreases by 55% GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080010100 – 104Missing in MMAA. 1 Publication5
    Natural variantiVAR_080011120 – 418Missing in MMAA. 1 PublicationAdd BLAST299
    Natural variantiVAR_080012129 – 418Missing in MMAA. 1 PublicationAdd BLAST290
    Natural variantiVAR_080013133 – 418Missing in MMAA. 1 PublicationAdd BLAST286
    Natural variantiVAR_080014145 – 418Missing in MMAA. 3 PublicationsAdd BLAST274
    Natural variantiVAR_020836145R → Q in MMAA; highly decreases protein levels; decreases protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200577967Ensembl.1
    Natural variantiVAR_080015147G → E in MMAA; highly decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080016188G → R in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs864309729EnsemblClinVar.1
    Natural variantiVAR_080017192G → D in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080018196 – 418Missing in MMAA. 1 PublicationAdd BLAST223
    Natural variantiVAR_080019196R → Q in MMAA; unknown pathological significance; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs144389160EnsemblClinVar.1
    Natural variantiVAR_017202207Y → C in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 3 PublicationsCorresponds to variant dbSNP:rs104893849EnsemblClinVar.1
    Natural variantiVAR_071919209R → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020837218G → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309730EnsemblClinVar.1
    Natural variantiVAR_080020220V → M in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 PublicationCorresponds to variant dbSNP:rs150376474EnsemblClinVar.1
    Natural variantiVAR_080021241I → F in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080022243T → N in MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080023248 – 418Missing in MMAA. 2 PublicationsAdd BLAST171
    Natural variantiVAR_071920250E → K in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080024258D → N in MMAA; highly decreases protein levels. 1 Publication1
    Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
    Natural variantiVAR_071922274G → S in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; slightly reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_071923276K → E in MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_080025287A → D in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1
    Natural variantiVAR_080026292D → V in MMAA; decreases protein levels; highly decreases binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB. 1 Publication1
    Natural variantiVAR_080027320 – 418Missing in MMAA. 1 PublicationAdd BLAST99
    Natural variantiVAR_080028330 – 418Missing in MMAA. 2 PublicationsAdd BLAST89
    Natural variantiVAR_080029359 – 418Missing in MMAA. 1 PublicationAdd BLAST60
    Natural variantiVAR_038804359R → G in MMAA; decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB. 2 Publications1
    Natural variantiVAR_020838359R → Q in MMAA; decreases protein levels. 3 PublicationsCorresponds to variant dbSNP:rs864309731EnsemblClinVar.1
    Natural variantiVAR_020423363Q → H1 PublicationCorresponds to variant dbSNP:rs2270655EnsemblClinVar.1
    Natural variantiVAR_080030399G → V in MMAA; highly decreases protein levels; decreases protein stability. 1 Publication1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF524846
    , AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA Translation: AAN77287.1
    AK126662 mRNA Translation: BAG54352.1
    CH471056 Genomic DNA Translation: EAX05036.1
    BC101178 mRNA Translation: AAI01179.1
    BC101179 mRNA Translation: AAI01180.1
    CCDSiCCDS3766.1
    RefSeqiNP_758454.1, NM_172250.2
    XP_011529986.1, XM_011531684.2
    XP_011529987.1, XM_011531685.2
    UniGeneiHs.452864

    Genome annotation databases

    EnsembliENST00000281317; ENSP00000281317; ENSG00000151611
    GeneIDi166785
    KEGGihsa:166785
    UCSCiuc003ikh.5 human

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF524846
    , AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA Translation: AAN77287.1
    AK126662 mRNA Translation: BAG54352.1
    CH471056 Genomic DNA Translation: EAX05036.1
    BC101178 mRNA Translation: AAI01179.1
    BC101179 mRNA Translation: AAI01180.1
    CCDSiCCDS3766.1
    RefSeqiNP_758454.1, NM_172250.2
    XP_011529986.1, XM_011531684.2
    XP_011529987.1, XM_011531685.2
    UniGeneiHs.452864

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2WWWX-ray2.64A/B/C/D72-418[»]
    ProteinModelPortaliQ8IVH4
    SMRiQ8IVH4
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi127933, 3 interactors
    IntActiQ8IVH4, 1 interactor
    STRINGi9606.ENSP00000281317

    Chemistry databases

    DrugBankiDB00115 Cyanocobalamin
    DB00200 Hydroxocobalamin

    PTM databases

    iPTMnetiQ8IVH4
    PhosphoSitePlusiQ8IVH4
    SwissPalmiQ8IVH4

    Polymorphism and mutation databases

    BioMutaiMMAA
    DMDMi38258173

    Proteomic databases

    EPDiQ8IVH4
    MaxQBiQ8IVH4
    PaxDbiQ8IVH4
    PeptideAtlasiQ8IVH4
    PRIDEiQ8IVH4
    ProteomicsDBi70708

    Protocols and materials databases

    DNASUi166785
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000281317; ENSP00000281317; ENSG00000151611
    GeneIDi166785
    KEGGihsa:166785
    UCSCiuc003ikh.5 human

    Organism-specific databases

    CTDi166785
    DisGeNETi166785
    EuPathDBiHostDB:ENSG00000151611.13
    GeneCardsiMMAA
    GeneReviewsiMMAA
    HGNCiHGNC:18871 MMAA
    HPAiHPA037361
    MalaCardsiMMAA
    MIMi251100 phenotype
    607481 gene
    neXtProtiNX_Q8IVH4
    OpenTargetsiENSG00000151611
    Orphaneti79310 Vitamin B12-responsive methylmalonic acidemia type cblA
    PharmGKBiPA134912808
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IFVS Eukaryota
    COG1703 LUCA
    GeneTreeiENSGT00390000009908
    HOVERGENiHBG045588
    InParanoidiQ8IVH4
    KOiK07588
    PhylomeDBiQ8IVH4
    TreeFamiTF313243

    Enzyme and pathway databases

    UniPathwayi
    UPA00148

    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

    Miscellaneous databases

    EvolutionaryTraceiQ8IVH4
    GeneWikiiMMAA
    GenomeRNAii166785
    PROiPR:Q8IVH4
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000151611 Expressed in 194 organ(s), highest expression level in secondary oocyte
    CleanExiHS_MMAA
    ExpressionAtlasiQ8IVH4 baseline and differential
    GenevisibleiQ8IVH4 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR005129 GTPase_ArgK
    IPR027417 P-loop_NTPase
    PANTHERiPTHR23408:SF3 PTHR23408:SF3, 1 hit
    SUPFAMiSSF52540 SSF52540, 1 hit
    TIGRFAMsiTIGR00750 lao, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiMMAA_HUMAN
    AccessioniPrimary (citable) accession number: Q8IVH4
    Secondary accession number(s): B3KX40, Q495G7
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: March 1, 2003
    Last modified: September 12, 2018
    This is version 139 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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