Sequence of C1TC_HUMAN
EC Number:1.5.1.5
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
5,10-methylenetetrahydrofolate + NADP+ = 5,10-methenyltetrahydrofolate + NADPH + H+
Other sequences found for EC No. 1.5.1.5
General information:
Sequence
0 MAPAEILNGK EISAQIRARL KNQVTQLKEQ VPGFTPRLAI LQVGNRDDSN LYINVKLKAA
60 EEIGIKATHI KLPRTTTESE VMKYITSLNE DSTVHGFLVQ LPLDSENSIN TEEVINAIAP
120 EKDVDGLTSI NAGKLARGDL NDCFIPCTPK GCLELIKETG VPIAGRHAVV VGRSKIVGAP
180 MHDLLLWNNA TVTTCHSKTA HLDEEVNKGD ILVVATGQPE MVKGEWIKPG AIVIDCGINY
240 VPDDKKPNGR KVVGDVAYDE AKERASFITP VPGGVGPMTV AMLMQSTVES AKRFLEKFKP
300 GKWMIQYNNL NLKTPVPSDI DISRSCKPKP IGKLAREIGL LSEEVELYGE TKAKVLLSAL
360 ERLKHRPDGK YVVVTGITPT PLGEGKSTTT IGLVQALGAH LYQNVFACVR QPSQGPTFGI
420 KGGAAGGGYS QVIPMEEFNL HLTGDIHAIT AANNLVAAAI DARIFHELTQ TDKALFNRLV
480 PSVNGVRRFS DIQIRRLKRL GIEKTDPTTL TDEEINRFAR LDIDPETITW QRVLDTNDRF
540 LRKITIGQAP TEKGHTRTAQ FDISVASEIM AVLALTTSLE DMRERLGKMV VASSKKGEPV
600 SAEDLGVSGA LTVLMKDAIK PNLMQTLEGT PVFVHAGPFA NIAHGNSSII ADRIALKLVG
660 PEGFVVTEAG FGADIGMEKF FNIKCRYSGL CPHVVVLVAT VRALKMHGGG PTVTAGLPLP
720 KAYIQENLEL VEKGFSNLKK QIENARMFGI PVVVAVNAFK TDTESELDLI SRLSREHGAF
780 DAVKCTHWAE GGKGALALAQ AVQRAAQAPS SFQLLYDLKL PVEDKIRIIA QKIYGADDIE
840 LLPEAQHKAE VYTKQGFGNL PICMAKTHLS LSHNPEQKGV PTGFILPIRD IRASVGAGFL
900 YPLVGTMSTM PGLPTRPCFY DIDLDPETEQ VNGLF
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
12149
Hum D.W.,Bell A.W.,Rozen R.,Mackenzie R.E.
Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
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1988
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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 T.-O.,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.
36
40-45
2004
12152
Heilig R.,Eckenberg R.,Petit J.-L.,Fonknechten N.,Da Silva C.,Cattolico L.,Levy M.,Barbe V.,De Berardinis V.,Ureta-Vidal A.,Pelletier E.,Vico V.,Anthouard V.,Rowen L.,Madan A.,Qin S.,Sun H.,Du H.,Pepin K.,Artiguenave F.,Robert C.,Cruaud C.,Bruels T.,Jaillon O.,Friedlander L.,Samson G.,Brottier P.,Cure S.,Segurens B.,Aniere F.,Samain S.,Crespeau H.,Abbasi N.,Aiach N.,Boscus D.,Dickhoff R.,Dors M.,Dubois I.,Friedman C.,Gouyvenoux M.,James R.,Madan A.,Mairey-Estrada B.,Mangenot S.,Martins N.,Menard M.,Oztas S.,Ratcliffe A.,Shaffer T.,Trask B.,Vacherie B.,Bellemere C.,Belser C.,Besnard-Gonnet M.,Bartol-Mavel D.,Boutard M.,Briez-Silla S.,Combette S.,Dufosse-Laurent V.,Ferron C.,Lechaplais C.,Louesse C.,Muselet D.,Magdelenat G.,Pateau E.,Petit E.,Sirvain-Trukniewicz P.,Trybou A.,Vega-Czarny N.,Bataille E.,Bluet E.,Bordelais I.,Dubois M.,Dumont C.,Guerin T.,Haffray S.,Hammadi R.,Muanga J.,Pellouin V.,Robert D.,Wunderle E.,Gauguet G.,Roy A.,Sainte-Marthe L.,Verdier J.,Verdier-Discala C.,Hillier L.W.,Fulton L.,McPherson J.,Matsuda F.,Wilson R.,Scarpelli C.,Gyapay G.,Wincker P.,Saurin W.,Quetier F.,Waterston R.,Hood L.,Weissenbach J.
The DNA sequence and analysis of human chromosome 14.
Nature
421
601-607
2003
12154
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
12155
Gevaert K.,Goethals M.,Martens L.,Van Damme J.,Staes A.,Thomas G.R.,Vandekerckhove J.
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
Nat. Biotechnol.
21
566-569
2003
12157
Hum D.W.,MacKenzie R.E.
Expression of active domains of a human folate-dependent trifunctional enzyme in Escherichia coli.
Protein Eng.
4
493-500
1991
12158
Andersen J.S.,Wilkinson C.J.,Mayor T.,Mortensen P.,Nigg E.A.,Mann M.
Proteomic characterization of the human centrosome by protein correlation profiling.
Nature
426
570-574
2003
12159
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
12160
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
12161
Bienvenut W.V.,Sumpton D.,Martinez A.,Lilla S.,Espagne C.,Meinnel T.,Giglione C.
Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
Mol. Cell. Proteomics
11
0-0
2012
12162
Van Damme P.,Lasa M.,Polevoda B.,Gazquez C.,Elosegui-Artola A.,Kim D.S.,De Juan-Pardo E.,Demeyer K.,Hole K.,Larrea E.,Timmerman E.,Prieto J.,Arnesen T.,Sherman F.,Gevaert K.,Aldabe R.
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
Proc. Natl. Acad. Sci. U.S.A.
109
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2012
12163
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
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2014
12164
Vaca Jacome A.S.,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
15
2519-2524
2015
12165
Allaire M.,Li Y.,Mackenzie R.E.,Cygler M.
The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5-A resolution.
Structure
6
173-182
1998
12166
Schmidt A.,Wu H.,MacKenzie R.E.,Chen V.J.,Bewly J.R.,Ray J.E.,Toth J.E.,Cygler M.
Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase.
Biochemistry
39
6325-6335
2000
12167
Hol F.A.,van der Put N.M.J.,Geurds M.P.A.,Heil S.G.,Trijbels F.J.M.,Hamel B.C.J.,Mariman E.C.M.,Blom H.J.
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Clin. Genet.
53
119-125
1998
12168
Brody L.C.,Conley M.,Cox C.,Kirke P.N.,McKeever M.P.,Mills J.L.,Molloy A.M.,O'Leary V.B.,Parle-McDermott A.,Scott J.M.,Swanson D.A.
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
Am. J. Hum. Genet.
71
1207-1215
2002
12169
Parle-McDermott A.,Kirke P.N.,Mills J.L.,Molloy A.M.,Cox C.,O'Leary V.B.,Pangilinan F.,Conley M.,Cleary L.,Brody L.C.,Scott J.M.
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
Eur. J. Hum. Genet.
14
768-772
2006
12170
Webb E.L.,Rudd M.F.,Sellick G.S.,El Galta R.,Bethke L.,Wood W.,Fletcher O.,Penegar S.,Withey L.,Qureshi M.,Johnson N.,Tomlinson I.,Gray R.,Peto J.,Houlston R.S.
Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
Hum. Mol. Genet.
15
3263-3271
2006
12171
Christensen K.E.,Rohlicek C.V.,Andelfinger G.U.,Michaud J.,Bigras J.-L.,Richter A.,Mackenzie R.E.,Rozen R.
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Hum. Mutat.
30
212-220
2009
12172
Watkins D.,Schwartzentruber J.A.,Ganesh J.,Orange J.S.,Kaplan B.S.,Nunez L.D.,Majewski J.,Rosenblatt D.S.
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
J. Med. Genet.
48
590-592
2011
12173
Burda P.,Kuster A.,Hjalmarson O.,Suormala T.,Buerer C.,Lutz S.,Roussey G.,Christa L.,Asin-Cayuela J.,Kollberg G.,Andersson B.A.,Watkins D.,Rosenblatt D.S.,Fowler B.,Holme E.,Froese D.S.,Baumgartner M.R.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
J. Inherit. Metab. Dis.
38
863-872
2015
12174
Ramakrishnan K.A.,Pengelly R.J.,Gao Y.,Morgan M.,Patel S.V.,Davies E.G.,Ennis S.,Faust S.N.,Williams A.P.
Precision molecular diagnosis defines specific therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 deficiency.
J. Allergy Clin. Immunol. Pract.
4
0-0
2016
