C1TC_HUMAN
Source:
hRBCD
; ID:
IPI00218342
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
MTHFD1
, MTHFC, MTHFD
Protein names and data:
C1TC_HUMAN
, C-1-tetrahydrofolate synthase, cytoplasmic; C1-THF synthase; Methylenetetrahydrofolate dehydrogenase; 1.5.1.5; Methenyltetrahydrofolate cyclohydrolase; 3.5.4.9; Formyltetrahydrofolate synthetase; 6.3.4.3; C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
Lenght: 935 a.a.
Mass: 101559 Da
fasta formatted sequence
Catalytic activity:
5,10-methylenetetrahydrofolate + NADP(+) = 5,10-methenyltetrahydrofolate + NADPH. 5,10-methenyltetrahydrofolate + H(2)O = 10- formyltetrahydrofolate. ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.
Pathway:
One-carbon metabolism; tetrahydrofolate interconversion.
Disease:
( OMIM:
114500
172460
601634
)
Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Tissue specificity:
Ubiquitous.
Genetic variants
134 - 134
R -> K (associated with increased risk of colorectal cancer; dbSNP:rs1950902). VAR_016232
1950902
162 - 162
P -> L (in dbSNP:rs4902283). VAR_055458
4902283
293 - 293
R -> H (associated with susceptibility to FS-NTD; dbSNP:rs34181110). VAR_010241
34181110
653 - 653
R -> Q (may be associated with susceptibility to FS-NTD; decreases enzyme stability and increases risk for congenital heart defects; dbSNP:rs2236225). VAR_010251
2236225
761 - 761
T -> M (in dbSNP:rs10813). VAR_032789
10813
769 - 769
L -> F (in dbSNP:rs17857382). VAR_032790
17857382
Database cross-references
UniProt:
P11586
Ensembl:
ENST00000216605
Ensembl:
ENST00000555709
MIM:
114500
MIM:
172460
MIM:
601634
neXtProt:
NX_P11586
Antibodypedia:
P11586
(may not find the protein thus also not any antibody)
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