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Q8C7H1

- MMAA_MOUSE

UniProt

Q8C7H1 - MMAA_MOUSE

Protein

Methylmalonic aciduria type A homolog, mitochondrial

Gene

Mmaa

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis By similarity.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei289 – 2891GTPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi147 – 1559GTPBy similarity
    Nucleotide bindingi325 – 3273GTPBy similarity

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. nucleoside-triphosphatase activity Source: InterPro

    GO - Biological processi

    1. cobalamin biosynthetic process Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Chaperone, Hydrolase

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_189075. Defective MMAA causes methylmalonic aciduria type cblA.
    REACT_189097. Defective MUT causes methylmalonic aciduria mut type.
    REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    UniPathwayiUPA00148.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonic aciduria type A homolog, mitochondrial (EC:3.6.-.-)
    Gene namesi
    Name:Mmaa
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 8

    Organism-specific databases

    MGIiMGI:1923805. Mmaa.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 6262MitochondrionSequence AnalysisAdd
    BLAST
    Chaini63 – 415353Methylmalonic aciduria type A homolog, mitochondrialPRO_0000002286Add
    BLAST

    Proteomic databases

    MaxQBiQ8C7H1.
    PaxDbiQ8C7H1.
    PRIDEiQ8C7H1.

    PTM databases

    PhosphoSiteiQ8C7H1.

    Expressioni

    Gene expression databases

    BgeeiQ8C7H1.
    GenevestigatoriQ8C7H1.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ8C7H1.
    SMRiQ8C7H1. Positions 70-413.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ArgK family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1703.
    GeneTreeiENSGT00390000009908.
    HOGENOMiHOG000003902.
    HOVERGENiHBG045588.
    InParanoidiQ8C7H1.
    KOiK07588.
    OMAiWMLLSNG.
    OrthoDBiEOG7BCNBZ.
    PhylomeDBiQ8C7H1.
    TreeFamiTF313243.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR005129. ArgK.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF03308. ArgK. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR00750. lao. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q8C7H1-1 [UniParc]FASTAAdd to Basket

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    MTISTLLLSP NRRLLTCLSR VPSPWLLHSS HPAPGPPGAL PNCFGHHCTK    50
    RVLLSDGFRR TLCVQATLKD HTEGLSDKEQ RFVDRLYTGL VKGQRACLAE 100
    AITLVESTHT RKRELAQVLL QRVLALQREQ ELRNQGKPLT FRVGLSGPPG 150
    AGKSTFIECF GKMLTEQGHR LSVLAVDPSS CTSGGSLLGD KTRMIELSRD 200
    MNAYIRPSPT SGTLGGVTRT TNEAIVLCEG GGYDIILIET VGVGQSEFAV 250
    ADMVDMFVLL LPPAGGDELQ GIKRGIIEMA DLVVITKSDG DLIVPARRIQ 300
    AEYVSALKLL RRRSEVWRPK VIRISARSGE GITEMWDTMR EFQHQMLASG 350
    ELAAKRQTQH KVWMWNLIQE NVLEHFKTHP SIREQIPLME RKVLSGALSP 400
    GRAADLLLKA FKSRH 415
    Length:415
    Mass (Da):45,932
    Last modified:March 1, 2003 - v1
    Checksum:iA46967424CC4CC06
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311H → P in AAH21954. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK050255 mRNA. Translation: BAC34149.1.
    BC021954 mRNA. Translation: AAH21954.1.
    BC027398 mRNA. Translation: AAH27398.1.
    CCDSiCCDS22436.1.
    RefSeqiNP_598584.2. NM_133823.4.
    XP_006530625.1. XM_006530562.1.
    XP_006530626.1. XM_006530563.1.
    XP_006530627.1. XM_006530564.1.
    UniGeneiMm.26510.

    Genome annotation databases

    EnsembliENSMUST00000048718; ENSMUSP00000048826; ENSMUSG00000037022.
    GeneIDi109136.
    KEGGimmu:109136.
    UCSCiuc009mim.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK050255 mRNA. Translation: BAC34149.1 .
    BC021954 mRNA. Translation: AAH21954.1 .
    BC027398 mRNA. Translation: AAH27398.1 .
    CCDSi CCDS22436.1.
    RefSeqi NP_598584.2. NM_133823.4.
    XP_006530625.1. XM_006530562.1.
    XP_006530626.1. XM_006530563.1.
    XP_006530627.1. XM_006530564.1.
    UniGenei Mm.26510.

    3D structure databases

    ProteinModelPortali Q8C7H1.
    SMRi Q8C7H1. Positions 70-413.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8C7H1.

    Proteomic databases

    MaxQBi Q8C7H1.
    PaxDbi Q8C7H1.
    PRIDEi Q8C7H1.

    Protocols and materials databases

    DNASUi 109136.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000048718 ; ENSMUSP00000048826 ; ENSMUSG00000037022 .
    GeneIDi 109136.
    KEGGi mmu:109136.
    UCSCi uc009mim.1. mouse.

    Organism-specific databases

    CTDi 166785.
    MGIi MGI:1923805. Mmaa.

    Phylogenomic databases

    eggNOGi COG1703.
    GeneTreei ENSGT00390000009908.
    HOGENOMi HOG000003902.
    HOVERGENi HBG045588.
    InParanoidi Q8C7H1.
    KOi K07588.
    OMAi WMLLSNG.
    OrthoDBi EOG7BCNBZ.
    PhylomeDBi Q8C7H1.
    TreeFami TF313243.

    Enzyme and pathway databases

    UniPathwayi UPA00148 .
    Reactomei REACT_189075. Defective MMAA causes methylmalonic aciduria type cblA.
    REACT_189097. Defective MUT causes methylmalonic aciduria mut type.
    REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.

    Miscellaneous databases

    NextBioi 361684.
    PROi Q8C7H1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8C7H1.
    Genevestigatori Q8C7H1.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR005129. ArgK.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF03308. ArgK. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00750. lao. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Liver.
    2. "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].
      Tissue: Liver and Mammary tumor.

    Entry informationi

    Entry nameiMMAA_MOUSE
    AccessioniPrimary (citable) accession number: Q8C7H1
    Secondary accession number(s): Q8R2N3, Q8VC22
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3