Details for: MMACHC

Gene ID: 25974

Symbol: MMACHC

Ensembl ID: ENSG00000132763

Description: metabolism of cobalamin associated C

Associated with

Other Information

Genular Protein ID: 3763954612

Symbol: MMAC_HUMAN

Name: Cyanocobalamin reductase / alkylcobalamin dealkylase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18779575

Title: Decyanation of vitamin B12 by a trafficking chaperone.

PubMed ID: 18779575

DOI: 10.1073/pnas.0805989105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19801555

Title: A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.

PubMed ID: 19801555

DOI: 10.1074/jbc.m109.057877

PubMed ID: 19700356

Title: Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

PubMed ID: 19700356

DOI: 10.1016/j.ymgme.2009.07.014

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21071249

Title: Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism.

PubMed ID: 21071249

DOI: 10.1016/j.ymgme.2010.10.011

PubMed ID: 23415655

Title: The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.

PubMed ID: 23415655

DOI: 10.1016/j.biochi.2013.02.003

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23270877

Title: Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

PubMed ID: 23270877

DOI: 10.1016/j.ymgme.2012.11.284

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25535791

Title: Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.

PubMed ID: 25535791

DOI: 10.3109/09687688.2014.990998

PubMed ID: 26483544

Title: Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking.

PubMed ID: 26483544

DOI: 10.1074/jbc.m115.683268

PubMed ID: 27771510

Title: Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

PubMed ID: 27771510

DOI: 10.1016/j.bbadis.2016.10.016

PubMed ID: 21697092

Title: Structural basis of multifunctionality in a vitamin B12-processing enzyme.

PubMed ID: 21697092

DOI: 10.1074/jbc.m111.261370

PubMed ID: 22642810

Title: Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

PubMed ID: 22642810

DOI: 10.1021/bi300150y

PubMed ID: 16311595

Title: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PubMed ID: 16311595

DOI: 10.1038/ng1683

PubMed ID: 20219402

Title: Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

PubMed ID: 20219402

DOI: 10.1016/j.ymgme.2010.02.005

PubMed ID: 25809485

Title: Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

PubMed ID: 25809485

DOI: 10.1074/jbc.m115.637132

Sequence Information:

  • Length: 282
  • Mass: 31728
  • Checksum: 3A7E6BC774CB5D17
  • Sequence:
  • MEPKVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPLPGPTLAF LVLSTPAMFD 
    RALKPFLQSC HLRMLTDPVD QCVAYHLGRV RESLPELQIE IIADYEVHPN RRPKILAQTA 
    AHVAGAAYYY QRQDVEADPW GNQRISGVCI HPRFGGWFAI RGVVLLPGIE VPDLPPRKPH 
    DCVPTRADRI ALLEGFNFHW RDWTYRDAVT PQERYSEEQK AYFSTPPAQR LALLGLAQPS 
    EKPSSPSPDL PFTTPAPKKP GNPSRARSWL SPRVSPPASP GP

Genular Protein ID: 1724804648

Symbol: A0A0C4DGU2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 225
  • Mass: 25331
  • Checksum: D0C3014E49A1233F
  • Sequence:
  • MFDRALKPFL QSCHLRMLTD PVDQCVAYHL GRVRESLPEL QIEIIADYEV HPNRRPKILA 
    QTAAHVAGAA YYYQRQDVEA DPWGNQRISG VCIHPRFGGW FAIRGVVLLP GIEVPDLPPR 
    KPHDCVPTRA DRIALLEGFN FHWRDWTYRD AVTPQERYSE EQKAYFSTPP AQRLALLGLA 
    QPSEKPSSPS PDLPFTTPAP KKPGNPSRAR SWLSPRVSPP ASPGP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.