Methylmalonic aciduria type A protein, mitochondrial

Details

Name
Methylmalonic aciduria type A protein, mitochondrial
Synonyms
  • 3.6.-.-
Gene Name
MMAA
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010245|Methylmalonic aciduria type A protein, mitochondrial
MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDG
LKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQ
VLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVD
PSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIIL
IETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPAR
RIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRR
KQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD
Number of residues
418
Molecular Weight
46537.865
Theoretical pI
9.83
GO Classification
Functions
GTP binding / hydrolase activity
Processes
cellular lipid metabolic process / cobalamin biosynthetic process / cobalamin metabolic process / fatty acid beta-oxidation / short-chain fatty acid catabolic process / small molecule metabolic process / vitamin metabolic process / water-soluble vitamin metabolic process
Components
mitochondrial matrix
General Function
Hydrolase activity
Specific Function
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.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Mitochondrion
Gene sequence
>lcl|BSEQ0010246|Methylmalonic aciduria type A protein, mitochondrial (MMAA)
ATGCCCATGCTGCTACCACATCCTCACCAGCATTTCCTAAAAGGCCTTTTAAGAGCACCT
TTCCGATGTTACCACTTCATCTTTCACTCAAGTACTCATCTCGGATCAGGAATCCCATGT
GCTCAGCCGTTTAATTCTCTTGGACTCCATTGTACAAAGTGGATGCTGCTGTCAGATGGC
TTAAAGAGAAAATTATGTGTACAAACAACCTTAAAGGACCACACAGAAGGACTTTCTGAT
AAAGAGCAAAGATTTGTGGATAAACTTTATACTGGTTTAATCCAAGGGCAAAGGGCCTGT
TTAGCAGAGGCCATAACTCTTGTAGAATCAACTCACAGCAGGAAAAAGGAGTTAGCCCAG
GTGCTTCTTCAGAAAGTATTACTTTACCACAGAGAACAAGAACAATCAAATAAAGGAAAA
CCACTAGCATTTCGAGTAGGATTGTCTGGGCCCCCTGGTGCTGGAAAATCAACATTTATA
GAATATTTTGGAAAAATGCTTACTGAGAGAGGGCACAAATTATCTGTGCTAGCTGTGGAC
CCTTCTTCTTGTACTAGTGGTGGATCACTCTTAGGTGATAAAACCCGAATGACTGAGTTA
TCAAGAGATATGAATGCATACATCAGGCCATCTCCTACTAGAGGAACTTTAGGAGGCGTG
ACAAGGACCACAAATGAAGCTATTCTGTTGTGTGAAGGAGCGGGATATGACATAATTCTT
ATTGAAACCGTTGGTGTGGGTCAGTCGGAGTTTGCTGTTGCTGACATGGTTGACATGTTT
GTTTTACTACTGCCACCAGCAGGAGGAGATGAGCTGCAGGGTATCAAAAGGGGTATAATC
GAGATGGCAGATCTGGTAGCTGTAACTAAATCTGATGGAGACTTGATTGTGCCAGCTCGA
AGGATACAAGCGGAATATGTGAGTGCACTGAAATTACTCCGCAAACGTTCACAAGTCTGG
AAACCAAAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTCTGAAATGTGGGAT
AAAATGAAAGATTTCCAGGACCTAATGCTTGCCAGTGGGGAGCTGACTGCCAAACGACGG
AAGCAACAGAAAGTTTGGATGTGGAATCTCATTCAGGAAAGTGTGTTAGAGCATTTCAGG
ACCCACCCCACAGTCCGGGAACAGATTCCACTTCTGGAACAAAAGGTTCTCATTGGGGCC
CTGTCCCCAGGACTAGCAGCAGACTTCTTGTTAAAAGCTTTTAAAAGCAGAGACTAA
Chromosome Location
4
Locus
4q31.22
External Identifiers
ResourceLink
UniProtKB IDQ8IVH4
UniProtKB Entry NameMMAA_HUMAN
GenBank Protein ID26006421
GenBank Gene IDAF524846
GenAtlas IDMMAA
HGNC IDHGNC:18871
General References
  1. Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA: Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. Epub 2002 Nov 15. [Article]
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 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. 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]
  5. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  6. Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW: Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28. [Article]
  7. Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Dore C, Lepage P, Gravel RA, Rosenblatt DS: Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat. 2004 Dec;24(6):509-16. [Article]
  8. Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T: Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Mol Genet Metab. 2004 Aug;82(4):329-33. [Article]
  9. Dempsey-Nunez L, Illson ML, Kent J, Huang Q, Brebner A, Watkins D, Gilfix BM, Wittwer CT, Rosenblatt DS: High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. Mol Genet Metab. 2012 Nov;107(3):363-7. doi: 10.1016/j.ymgme.2012.09.012. Epub 2012 Sep 15. [Article]

Drug Relations

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