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Q96EY8

- MMAB_HUMAN

UniProt

Q96EY8 - MMAB_HUMAN

Protein

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial

Gene

MMAB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    ATP + cob(I)yrinic acid a,c-diamide = triphosphate + adenosylcob(III)yrinic acid a,c-diamide.
    ATP + cobinamide = triphosphate + adenosylcobinamide.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei78 – 781ATP1 Publication
    Binding sitei214 – 2141ATP1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi60 – 634ATP1 Publication
    Nucleotide bindingi68 – 692ATP1 Publication
    Nucleotide bindingi190 – 1945ATP1 Publication

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cob(I)yrinic acid a,c-diamide adenosyltransferase activity Source: Reactome

    GO - Biological processi

    1. cobalamin biosynthetic process Source: UniProtKB-UniPathway
    2. cobalamin metabolic process Source: Reactome
    3. small molecule metabolic process Source: Reactome
    4. vitamin metabolic process Source: Reactome
    5. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    UniPathwayiUPA00148; UER00233.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial (EC:2.5.1.17)
    Alternative name(s):
    Cob(I)alamin adenosyltransferase
    Methylmalonic aciduria type B protein
    Gene namesi
    Name:MMAB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:19331. MMAB.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria type cblB (MMAB) [MIM:251110]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti96 – 961I → T in MMAB. 1 Publication
    VAR_023471
    Natural varianti135 – 1351A → T in MMAB. 1 Publication
    Corresponds to variant rs35648932 [ dbSNP | Ensembl ].
    VAR_017204
    Natural varianti191 – 1911R → W in MMAB. 2 Publications
    VAR_017206
    Natural varianti193 – 1931E → K in MMAB. 1 Publication
    VAR_017207

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi251110. phenotype.
    Orphaneti79311. Vitamin B12-responsive methylmalonic acidemia type cblB.
    PharmGKBiPA134864025.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3232MitochondrionSequence AnalysisAdd
    BLAST
    Chaini33 – 250218Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrialPRO_0000005568Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei211 – 2111N6-succinyllysineBy similarity
    Modified residuei230 – 2301N6-acetyllysine; alternateBy similarity
    Modified residuei230 – 2301N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96EY8.
    PaxDbiQ96EY8.
    PeptideAtlasiQ96EY8.
    PRIDEiQ96EY8.

    PTM databases

    PhosphoSiteiQ96EY8.

    Expressioni

    Tissue specificityi

    Expressed in liver and skeletal muscle.

    Gene expression databases

    ArrayExpressiQ96EY8.
    BgeeiQ96EY8.
    CleanExiHS_MMAB.
    GenevestigatoriQ96EY8.

    Organism-specific databases

    HPAiHPA039017.

    Interactioni

    Subunit structurei

    Homotrimer.1 Publication

    Protein-protein interaction databases

    BioGridi130605. 2 interactions.
    IntActiQ96EY8. 1 interaction.
    STRINGi9606.ENSP00000266839.

    Structurei

    Secondary structure

    1
    250
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi80 – 10021
    Helixi109 – 12820
    Helixi148 – 16215
    Helixi177 – 19620
    Turni197 – 2037
    Helixi207 – 23125

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2IDXX-ray2.50A/B/C56-250[»]
    ProteinModelPortaliQ96EY8.
    SMRiQ96EY8. Positions 58-240.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ96EY8.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG2096.
    HOGENOMiHOG000291639.
    HOVERGENiHBG045589.
    InParanoidiQ96EY8.
    KOiK00798.
    OMAiFVAARHA.
    OrthoDBiEOG7X3QS4.
    PhylomeDBiQ96EY8.
    TreeFamiTF312942.

    Family and domain databases

    Gene3Di1.20.1200.10. 1 hit.
    InterProiIPR016030. AdoCbl_synth_CblAdoTrfase-like.
    IPR029499. PduO-typ.
    [Graphical view]
    PfamiPF01923. Cob_adeno_trans. 1 hit.
    [Graphical view]
    ProDomiPD007457. AdoCbl_syn_CblAdoTrfase_PduO_N. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    SUPFAMiSSF89028. SSF89028. 1 hit.
    TIGRFAMsiTIGR00636. PduO_Nterm. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q96EY8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVCGLGSRL GLGSRLGLRG CFGAARLLYP RFQSRGPQGV EDGDRPQPSS    50
    KTPRIPKIYT KTGDKGFSST FTGERRPKDD QVFEAVGTTD ELSSAIGFAL 100
    ELVTEKGHTF AEELQKIQCT LQDVGSALAT PCSSAREAHL KYTTFKAGPI 150
    LELEQWIDKY TSQLPPLTAF ILPSGGKISS ALHFCRAVCR RAERRVVPLV 200
    QMGETDANVA KFLNRLSDYL FTLARYAAMK EGNQEKIYMK NDPSAESEGL 250
    Length:250
    Mass (Da):27,388
    Last modified:December 1, 2001 - v1
    Checksum:iAEFC4E487C9FA5AB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191R → H.
    Corresponds to variant rs10774775 [ dbSNP | Ensembl ].
    VAR_038803
    Natural varianti19 – 191R → Q.3 Publications
    Corresponds to variant rs36013132 [ dbSNP | Ensembl ].
    VAR_017203
    Natural varianti96 – 961I → T in MMAB. 1 Publication
    VAR_023471
    Natural varianti135 – 1351A → T in MMAB. 1 Publication
    Corresponds to variant rs35648932 [ dbSNP | Ensembl ].
    VAR_017204
    Natural varianti186 – 1861R → W.1 Publication
    Corresponds to variant rs28941784 [ dbSNP | Ensembl ].
    VAR_017205
    Natural varianti191 – 1911R → W in MMAB. 2 Publications
    VAR_017206
    Natural varianti193 – 1931E → K in MMAB. 1 Publication
    VAR_017207
    Natural varianti239 – 2391M → K Common polymorphism. 3 Publications
    Corresponds to variant rs9593 [ dbSNP | Ensembl ].
    VAR_017208

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF550404
    , AF550396, AF550397, AF550398, AF550399, AF550400, AF550401, AF550402, AF550403 Genomic DNA. Translation: AAN85091.1.
    FJ515859 Genomic DNA. Translation: ACS13749.1.
    BC005054 mRNA. Translation: AAH05054.2.
    BC011831 mRNA. Translation: AAH11831.1.
    CCDSiCCDS9131.1.
    RefSeqiNP_443077.1. NM_052845.3.
    UniGeneiHs.12106.

    Genome annotation databases

    EnsembliENST00000545712; ENSP00000445920; ENSG00000139428.
    GeneIDi326625.
    KEGGihsa:326625.
    UCSCiuc001tou.3. human.

    Polymorphism databases

    DMDMi38258221.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF550404
    , AF550396 , AF550397 , AF550398 , AF550399 , AF550400 , AF550401 , AF550402 , AF550403 Genomic DNA. Translation: AAN85091.1 .
    FJ515859 Genomic DNA. Translation: ACS13749.1 .
    BC005054 mRNA. Translation: AAH05054.2 .
    BC011831 mRNA. Translation: AAH11831.1 .
    CCDSi CCDS9131.1.
    RefSeqi NP_443077.1. NM_052845.3.
    UniGenei Hs.12106.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2IDX X-ray 2.50 A/B/C 56-250 [» ]
    ProteinModelPortali Q96EY8.
    SMRi Q96EY8. Positions 58-240.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130605. 2 interactions.
    IntActi Q96EY8. 1 interaction.
    STRINGi 9606.ENSP00000266839.

    Chemistry

    DrugBanki DB00115. Cyanocobalamin.
    DB00200. Hydroxocobalamin.

    PTM databases

    PhosphoSitei Q96EY8.

    Polymorphism databases

    DMDMi 38258221.

    Proteomic databases

    MaxQBi Q96EY8.
    PaxDbi Q96EY8.
    PeptideAtlasi Q96EY8.
    PRIDEi Q96EY8.

    Protocols and materials databases

    DNASUi 326625.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000545712 ; ENSP00000445920 ; ENSG00000139428 .
    GeneIDi 326625.
    KEGGi hsa:326625.
    UCSCi uc001tou.3. human.

    Organism-specific databases

    CTDi 326625.
    GeneCardsi GC12M109991.
    GeneReviewsi MMAB.
    HGNCi HGNC:19331. MMAB.
    HPAi HPA039017.
    MIMi 251110. phenotype.
    607568. gene.
    neXtProti NX_Q96EY8.
    Orphaneti 79311. Vitamin B12-responsive methylmalonic acidemia type cblB.
    PharmGKBi PA134864025.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2096.
    HOGENOMi HOG000291639.
    HOVERGENi HBG045589.
    InParanoidi Q96EY8.
    KOi K00798.
    OMAi FVAARHA.
    OrthoDBi EOG7X3QS4.
    PhylomeDBi Q96EY8.
    TreeFami TF312942.

    Enzyme and pathway databases

    UniPathwayi UPA00148 ; UER00233 .
    Reactomei REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.

    Miscellaneous databases

    EvolutionaryTracei Q96EY8.
    GeneWikii MMAB.
    GenomeRNAii 326625.
    NextBioi 96712.
    PROi Q96EY8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96EY8.
    Bgeei Q96EY8.
    CleanExi HS_MMAB.
    Genevestigatori Q96EY8.

    Family and domain databases

    Gene3Di 1.20.1200.10. 1 hit.
    InterProi IPR016030. AdoCbl_synth_CblAdoTrfase-like.
    IPR029499. PduO-typ.
    [Graphical view ]
    Pfami PF01923. Cob_adeno_trans. 1 hit.
    [Graphical view ]
    ProDomi PD007457. AdoCbl_syn_CblAdoTrfase_PduO_N. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    SUPFAMi SSF89028. SSF89028. 1 hit.
    TIGRFAMsi TIGR00636. PduO_Nterm. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria."
      Dobson C.M., Wai T., Leclerc D., Kadir H., Narang M., Lerner-Ellis J.P., Hudson T.J., Rosenblatt D.S., Gravel R.A.
      Hum. Mol. Genet. 11:3361-3369(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MMAB THR-135; TRP-191 AND LYS-193, VARIANTS GLN-19; TRP-186 AND LYS-239.
    2. "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant."
      Leal N.A., Park S.D., Kima P.E., Bobik T.A.
      J. Biol. Chem. 278:9227-9234(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLN-19 AND LYS-239, INVOLVEMENT IN DISEASE.
    3. NHLBI resequencing and genotyping service (RS&G)
      Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLN-19 AND LYS-239.
      Tissue: Lung.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Structure of ATP-bound human ATP:cobalamin adenosyltransferase."
      Schubert H.L., Hill C.P.
      Biochemistry 45:15188-15196(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 55-250 IN COMPLEX WITH ATP, SUBUNIT.
    7. "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants."
      Martinez M.A., Rincon A., Desviat L.R., Merinero B., Ugarte M., Perez B.
      Mol. Genet. Metab. 84:317-325(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MMAB THR-96 AND TRP-191.

    Entry informationi

    Entry nameiMMAB_HUMAN
    AccessioniPrimary (citable) accession number: Q96EY8
    Secondary accession number(s): C5HU05, Q9BSH0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 125 of the entry and version 1 of the sequence. [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. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3