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Identification
HMDB Protein ID HMDBP00920
Secondary Accession Numbers
  • 6208
  • HMDBP04352
Name Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
Synonyms
  1. Methenyltetrahydrofolate cyclohydrolase
  2. NAD-dependent methylenetetrahydrofolate dehydrogenase
Gene Name MTHFD2
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific Function Not Available
Pathways
  • Folate malabsorption, hereditary
  • Folate Metabolism
  • Methotrexate Pathway
  • Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
  • One carbon pool by folate
Reactions
5,10-Methylene-THF + NAD → 5,10-Methenyltetrahydrofolic acid + NADH details
5,10-Methenyltetrahydrofolic acid + Water → 10-Formyltetrahydrofolate details
5,10-Methenyltetrahydrofolic acid + Water → 10-Formyltetrahydrofolate + Hydrogen Ion details
GO Classification
Biological Process
response to heat
folic acid-containing compound biosynthetic process
tetrahydrofolate metabolic process
one-carbon metabolic process
Cellular Component
mitochondrion
Function
binding
catalytic activity
Molecular Function
magnesium ion binding
methylenetetrahydrofolate dehydrogenase (NAD+) activity
methenyltetrahydrofolate cyclohydrolase activity
methylenetetrahydrofolate dehydrogenase (NADP+) activity
phosphate ion binding
nucleotide binding
Process
metabolic process
cellular aromatic compound metabolic process
folic acid and derivative metabolic process
cellular metabolic process
folic acid and derivative biosynthetic process
Cellular Location
  1. Mitochondrion
Gene Properties
Chromosome Location 2
Locus 2p13.1
SNPs MTHFD2
Gene Sequence
>1053 bp
ATGGCTGCGACTTCTCTAATGTCTGCTTTGGCTGCCCGGCTGCTGCAGCCCGCGCACAGC
TGCTCCCTTCGCCTTCGCCCTTTCCACCTCGCGGCAGTTCGAAATGAAGCTGTTGTCATT
TCTGGAAGGAAACTGGCCCAGCAGATCAAGCAGGAAGTGCGGCAGGAGGTAGAAGAGTGG
GTGGCCTCAGGCAACAAACGGCCACACCTGAGTGTGATCCTGGTTGGCGAGAATCCTGCA
AGTCACTCCTATGTCCTCAACAAAACCAGGGCAGCTGCAGTTGTGGGAATCAACAGTGAG
ACAATTATGAAACCAGCTTCAATTTCAGAGGAAGAATTGTTGAATTTAATCAATAAACTG
AATAATGATGATAATGTAGATGGCCTCCTTGTTCAGTTGCCTCTTCCAGAGCATATTGAT
GAGAGAAGGATCTGCAATGCTGTTTCTCCAGACAAGGATGTTGATGGCTTTCATGTAATT
AATGTAGGACGAATGTGTTTGGATCAGTATTCCATGTTACCGGCTACTCCATGGGGTGTG
TGGGAAATAATCAAGCGAACTGGCATTCCAACCCTAGGGAAGAATGTGGTTGTGGCTGGA
AGGTCAAAAAACGTTGGAATGCCCATTGCAATGTTACTGCACACAGATGGGGCGCATGAA
CGTCCCGGAGGTGATGCCACTGTTACAATATCTCATCGATATACTCCCAAAGAGCAGTTG
AAGAAACATACAATTCTTGCAGATATTGTAATATCTGCTGCAGGTATTCCAAATCTGATC
ACAGCAGATATGATCAAGGAAGGAGCAGCAGTCATTGATGTGGGAATAAATAGAGTTCAC
GATCCTGTAACTGCCAAACCCAAGTTGGTTGGAGATGTGGATTTTGAAGGAGTCAGACAA
AAAGCTGGGTATATCACTCCAGTTCCTGGAGGTGTTGGCCCCATGACAGTGGCAATGCTA
ATGAAGAATACCATTATTGCTGCAAAAAAGGTGCTGAGGCTTGAAGAGCGAGAAGTGCTG
AAGTCTAAAGAGCTTGGGGTAGCCACTAATTAA
Protein Properties
Number of Residues 350
Molecular Weight 37894.775
Theoretical pI 8.73
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEW
VASGNKRPHLSVILVGENPASHSYVLNKTRAAAVVGINSETIMKPASISEEELLNLINKL
NNDDNVDGLLVQLPLPEHIDERRICNAVSPDKDVDGFHVINVGRMCLDQYSMLPATPWGV
WEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGDATVTISHRYTPKEQL
KKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQ
KAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN
GenBank ID Protein 94721354
UniProtKB/Swiss-Prot ID P13995
UniProtKB/Swiss-Prot Entry Name MTDC_HUMAN
PDB IDs
GenBank Gene ID NM_006636.3
GeneCard ID MTHFD2
GenAtlas ID MTHFD2
HGNC ID HGNC:7434
References
General References
  1. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621 ]
  2. 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. [PubMed:15489334 ]
  3. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  4. Peri KG, Belanger C, Mackenzie RE: Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. Nucleic Acids Res. 1989 Nov 11;17(21):8853. [PubMed:2587219 ]