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Identification
HMDB Protein ID HMDBP10724
Secondary Accession Numbers
  • 16986
Name Methylmalonic aciduria and homocystinuria type C protein
Synonyms Not Available
Gene Name MMACHC
Protein Type Unknown
Biological Properties
General Function Involved in cobalamin binding
Specific Function May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12)
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 1p34.1
SNPs MMACHC
Gene Sequence
>849 bp
ATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGC
TTCGAGGTTTACCCCTTCCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCAC
CTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGAC
CGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGAC
CAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGGA
ATCATTGCTGACTACGAGGTACACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGG
GGGAACCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATC
CGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCAT
GACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGG
CGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAG
GCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCA
GAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCT
GGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCT
GGCCCTTGA
Protein Properties
Number of Residues 282
Molecular Weight 31728.1
Theoretical pI 7.92
Pfam Domain Function Not Available
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Methylmalonic aciduria and homocystinuria type C protein
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
GenBank ID Protein 52545527
UniProtKB/Swiss-Prot ID Q9Y4U1
UniProtKB/Swiss-Prot Entry Name MMAC_HUMAN
PDB IDs Not Available
GenBank Gene ID AL080062
GeneCard ID MMACHC
GenAtlas ID MMACHC
HGNC ID HGNC:24525
References
General References
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  3. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  4. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  5. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  6. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
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