Methylmalonic aciduria and homocystinuria type C protein

Details

Name
Methylmalonic aciduria and homocystinuria type C protein
Synonyms
Not Available
Gene Name
MMACHC
Organism
Humans
Amino acid sequence
>lcl|BSEQ0004268|Methylmalonic aciduria and homocystinuria type C protein
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
Number of residues
282
Molecular Weight
31728.095
Theoretical pI
7.92
GO Classification
Functions
cobalamin binding
Processes
cobalamin biosynthetic process / cobalamin metabolic process / small molecule metabolic process / vitamin metabolic process / water-soluble vitamin metabolic process
Components
cytosol / mitochondrion
General Function
Cobalamin binding
Specific Function
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cytoplasm
Gene sequence
>lcl|BSEQ0011573|Methylmalonic aciduria and homocystinuria type C protein (MMACHC)
ATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGC
TTCGAGGTTTACCCCTTCCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCAC
CTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGAC
CGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGAC
CAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGAA
ATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGG
GGGAACCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATC
CGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCAT
GACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGG
CGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAG
GCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCA
GAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCT
GGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCT
GGCCCTTGA
Chromosome Location
1
Locus
1p34.1
External Identifiers
ResourceLink
UniProtKB IDQ9Y4U1
UniProtKB Entry NameMMAC_HUMAN
GenBank Protein ID52545527
GenBank Gene IDAL080062
GenAtlas IDMMACHC
HGNC IDHGNC:24525
General References
  1. 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. [Article]
  2. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [Article]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  4. 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. [Article]
  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. [Article]
  6. 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. [Article]
  7. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [Article]
  8. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  9. Mah W, Deme JC, Watkins D, Fung S, Janer A, Shoubridge EA, Rosenblatt DS, Coulton JW: Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Mol Genet Metab. 2013 Feb;108(2):112-8. doi: 10.1016/j.ymgme.2012.11.284. Epub 2012 Dec 7. [Article]
  10. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]
  11. Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27. [Article]
  12. Froese DS, Healy S, McDonald M, Kochan G, Oppermann U, Niesen FH, Gravel RA: Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. Mol Genet Metab. 2010 May;100(1):29-36. doi: 10.1016/j.ymgme.2010.02.005. Epub 2010 Feb 15. [Article]
  13. Gherasim C, Ruetz M, Li Z, Hudolin S, Banerjee R: Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. J Biol Chem. 2015 May 1;290(18):11393-402. doi: 10.1074/jbc.M115.637132. Epub 2015 Mar 25. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00115Cyanocobalaminapproved, nutraceuticalunknowncofactorDetails
DB00200Hydroxocobalaminapprovedunknownother/unknownDetails