MTHFD1 ELISA Kit for Human(Homo sapiens) | EIAab.comMTHFD1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > MTHFD1(Gene name) > Human

MTHFD1 (Gene name),

C-1-tetrahydrofolate synthase, cytoplasmic (Protein name ), C1TC_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

MTHFD1(MTHFC;MTHFD);

Protein name:

C-1-tetrahydrofolate synthase, cytoplasmic(C1-THF synthase);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer.

Function:

N/A

Subcellular Location:

Cytoplasm

Protein Attributes:

Sequence length:

935

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

935:

YPLVGTMSTM | PGLPTRPCFY | DIDLDPETEQ | VNGLF

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.652308

STRING:

9606.ENSP00000216605

KEGG:

hsa:4522

Pfam:

PF01268

SMR:

P11586

MIM:

114500

String:

P11586

Uniprot:

P11586

FOR

ELISA Kit for Human C1-THF synthase

CLIA Kit for Human C1-THF synthase

Polyclonal Antibody for Human C1-THF synthase

Monoclonal Antibody for Human C1-THF synthase

Protein for Human C1-THF synthase

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase."
Hum D.W. , Bell A.W. , Rozen R. , Mackenzie R.E.
J. Biol. Chem.263:15946-15950(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];PROTEIN SEQUENCE OF 2-31
tissue: Liver.
2.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT GLN-653
tissue: Amygdala.
3.

"The DNA sequence and analysis of human chromosome 14."
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. , more...
Nature421:601-607(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT GLN-653
5.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANTS GLN-653 AND PHE-769
tissue: Brain.
tissue: Eye.
tissue: Lymph.
6.

"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Gevaert K. , Goethals M. , Martens L. , Van Damme J. , Staes A. , Thomas G.R. , Vandekerckhove J.
Nat. Biotechnol.21:566-569(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-17
tissue: Platelet.
7.

Bienvenut W.V. , Gao M. , Leug H. , Campbell A. , Ozanne B.W.
Submitted (2009-07) to the UniProtKB

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-17; 251-264; 314-324; 355-362; 596-616 AND 722-733;CLEAVAGE OF INITIATOR METHIONINE;IDENTIFICATION BY MASS SPECTROMETRY
tissue: Foreskin fibroblast.
tissue: Prostatic carcinoma.
8.

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
9.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
10.

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V. , Sumpton D. , Martinez A. , Lilla S. , Espagne C. , Meinnel T. , Giglione C.
Mol. Cell. Proteomics11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
11.

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
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.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.

"The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5-A resolution."
Allaire M. , Li Y. , Mackenzie R.E. , Cygler M.
Structure6:173-182(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 1-302
13.

"Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase."
Schmidt A. , Wu H. , MacKenzie R.E. , Chen V.J. , Bewly J.R. , Ray J.E. , Toth J.E. , Cygler M.
Biochemistry39:6325-6335(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 1-306 IN COMPLEX WITH NADP AND SUBSTRATE ANALOGS;SUBUNIT;MUTAGENESIS OF SER-49; TYR-52; LYS-56 AND CYS-147
14.

"Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects."
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.
Clin. Genet.53:119-125(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ASSOCIATION OF VARIANT HIS-293 WITH SUSCEPTIBILITY TO FS-NTD;VARIANT GLN-653
15.

"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."
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.
Am. J. Hum. Genet.71:1207-1215(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ASSOCIATION OF VARIANT GLN-653 WITH SUSCEPTIBILITY TO FS-NTD;VARIANT LYS-134
16.

"Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population."
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.
Eur. J. Hum. Genet.14:768-772(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ASSOCIATION OF VARIANT GLN-653 WITH SUSCEPTIBILITY TO FS-NTD;VARIANT LYS-134
17.

"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."
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.
Hum. Mol. Genet.15:3263-3271(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LYS-134;ASSOCIATION WITH COLORECTAL CANCER SUSCEPTIBILITY
18.

"The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects."
Christensen K.E. , Rohlicek C.V. , Andelfinger G.U. , Michaud J. , Bigras J.-L. , Richter A. , Mackenzie R.E. , Rozen R.
Hum. Mutat.30:212-220(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT GLN-653;ASSOCIATION WITH RISK OF CONGENITAL HEART DEFECTS

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