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Q9CZD0

- MMAC_MOUSE

UniProt

Q9CZD0 - MMAC_MOUSE

Protein

Methylmalonic aciduria and homocystinuria type C protein homolog

Gene

Mmachc

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 2 (10 Jan 2006)
      Previous versions | rss
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    Functioni

    May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).By similarity

    Pathwayi

    GO - Molecular functioni

    1. cobalamin binding Source: UniProtKB-KW

    GO - Biological processi

    1. cobalamin biosynthetic process Source: UniProtKB-UniPathway

    Keywords - Ligandi

    Cobalamin, Cobalt

    Enzyme and pathway databases

    ReactomeiREACT_189076. Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC.
    REACT_189078. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.
    REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    UniPathwayiUPA00148.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonic aciduria and homocystinuria type C protein homolog
    Gene namesi
    Name:Mmachc
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 4

    Organism-specific databases

    MGIiMGI:1914346. Mmachc.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. mitochondrion Source: MGI

    Keywords - Cellular componenti

    Cytoplasm

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 279279Methylmalonic aciduria and homocystinuria type C protein homologPRO_0000076259Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei247 – 2471PhosphoserineBy similarity
    Modified residuei272 – 2721PhosphoserineBy similarity
    Modified residuei276 – 2761PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PRIDEiQ9CZD0.

    PTM databases

    PhosphoSiteiQ9CZD0.

    Expressioni

    Gene expression databases

    BgeeiQ9CZD0.
    GenevestigatoriQ9CZD0.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9CZD0.
    SMRiQ9CZD0. Positions 2-238.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MMACHC family.Curated

    Phylogenomic databases

    eggNOGiNOG80998.
    GeneTreeiENSGT00390000003464.
    HOGENOMiHOG000231413.
    HOVERGENiHBG080267.
    InParanoidiQ9CZD0.
    KOiK14618.
    OMAiWYNELLP.
    OrthoDBiEOG786H43.
    PhylomeDBiQ9CZD0.
    TreeFamiTF332476.

    Sequencei

    Sequence statusi: Complete.

    Q9CZD0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEPRVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPFPGPTLAF    50
    LVLSTPAMFD RALKPFLKSC HFQTLRDPVD QCVSYHLRSV TEKFPEVHME 100
    VIADYEVHPN RRPKILAQTA AHVAGAAYYY QRQDVDADPW GTQHIAGVCI 150
    HPRFGGWFAI RGVMLLPGIE VPNLPPRKPP DCVPTRAGRI TLLEGFNFHW 200
    RDWTYRDAVT PEERYSEEQK IYFSTPPAQR LALLGLAQPS EHPSTTSELP 250
    LSLLTKPQNS RRARSWLSPS VSPPVSPGP 279
    Length:279
    Mass (Da):31,648
    Last modified:January 10, 2006 - v2
    Checksum:i178FAEB388691B09
    GO

    Sequence cautioni

    The sequence BAB25214.1 differs from that shown. Reason: Frameshift at position 13.
    The sequence AAH54756.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAC39135.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti14 – 141D → G in BAB28451. (PubMed:16141072)Curated
    Sequence conflicti239 – 2391P → H in BAB28451. (PubMed:16141072)Curated
    Sequence conflicti256 – 2561K → T in BAB28451. (PubMed:16141072)Curated
    Sequence conflicti260 – 2601S → Y in BAB28451. (PubMed:16141072)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK007725 mRNA. Translation: BAB25214.1. Frameshift.
    AK012761 mRNA. Translation: BAB28451.1.
    AK084194 mRNA. Translation: BAC39135.1. Different initiation.
    BC054756 mRNA. Translation: AAH54756.1. Different initiation.
    CCDSiCCDS51278.1.
    RefSeqiNP_080238.2. NM_025962.3.
    UniGeneiMm.252785.

    Genome annotation databases

    EnsembliENSMUST00000030453; ENSMUSP00000030453; ENSMUSG00000028690.
    GeneIDi67096.
    KEGGimmu:67096.
    UCSCiuc008uhe.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK007725 mRNA. Translation: BAB25214.1 . Frameshift.
    AK012761 mRNA. Translation: BAB28451.1 .
    AK084194 mRNA. Translation: BAC39135.1 . Different initiation.
    BC054756 mRNA. Translation: AAH54756.1 . Different initiation.
    CCDSi CCDS51278.1.
    RefSeqi NP_080238.2. NM_025962.3.
    UniGenei Mm.252785.

    3D structure databases

    ProteinModelPortali Q9CZD0.
    SMRi Q9CZD0. Positions 2-238.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9CZD0.

    Proteomic databases

    PRIDEi Q9CZD0.

    Protocols and materials databases

    DNASUi 67096.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000030453 ; ENSMUSP00000030453 ; ENSMUSG00000028690 .
    GeneIDi 67096.
    KEGGi mmu:67096.
    UCSCi uc008uhe.1. mouse.

    Organism-specific databases

    CTDi 25974.
    MGIi MGI:1914346. Mmachc.

    Phylogenomic databases

    eggNOGi NOG80998.
    GeneTreei ENSGT00390000003464.
    HOGENOMi HOG000231413.
    HOVERGENi HBG080267.
    InParanoidi Q9CZD0.
    KOi K14618.
    OMAi WYNELLP.
    OrthoDBi EOG786H43.
    PhylomeDBi Q9CZD0.
    TreeFami TF332476.

    Enzyme and pathway databases

    UniPathwayi UPA00148 .
    Reactomei REACT_189076. Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC.
    REACT_189078. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.
    REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.

    Miscellaneous databases

    ChiTaRSi MMACHC. mouse.
    NextBioi 323562.
    PROi Q9CZD0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9CZD0.
    Genevestigatori Q9CZD0.

    Family and domain databases

    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: Brain and Pancreas.
    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].
      Strain: C57BL/6.
      Tissue: Brain.

    Entry informationi

    Entry nameiMMAC_MOUSE
    AccessioniPrimary (citable) accession number: Q9CZD0
    Secondary accession number(s): Q9D8S7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2006
    Last sequence update: January 10, 2006
    Last modified: October 1, 2014
    This is version 80 of the entry and version 2 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