Property Summary

NCBI Gene PubMed Count 33
PubMed Score 42.34
PubTator Score 22.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Coronary heart disease 59
Disease Target Count P-value
lung adenocarcinoma 2714 3.11115662150146E-11
psoriasis 6685 5.07669840963938E-9
ulcerative colitis 2087 1.99168635405356E-7
atypical teratoid / rhabdoid tumor 4369 2.74721634702471E-4
primary Sjogren syndrome 789 4.09626218757272E-4
nasopharyngeal carcinoma 1056 5.77675140409733E-4
ovarian cancer 8492 8.65746900801882E-4
active Crohn's disease 918 0.00264321891544294
glioblastoma 5572 0.00438745692434145
Polycystic Ovary Syndrome 335 0.0132166064063487
gastric carcinoma 832 0.0445167000122913
Disease Target Count Z-score Confidence
Alzheimer's disease 644 0.0 2.0
Cardiovascular system disease 194 0.0 2.0

Expression

  Differential Expression (11)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 0.000
glioblastoma 1.200 0.004
active Crohn's disease 1.593 0.003
ulcerative colitis 1.700 0.000
primary Sjogren syndrome 1.300 0.000
lung adenocarcinoma 1.200 0.000
nasopharyngeal carcinoma 1.200 0.001
psoriasis 1.100 0.000
Polycystic Ovary Syndrome -1.040 0.013
gastric carcinoma 1.800 0.045
ovarian cancer 2.200 0.001

Synonym

Accession Q6UB35 Q2TBF3 Q8WVW0 Q96HG8 Q9H789 Q9UFU8
Symbols FTHFSDC1
MTC1THFS
dJ292B18.2

Gene

PANTHER Protein Class (1)

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Zebrafish OMA Inparanoid
S.cerevisiae OMA Inparanoid

Gene RIF (24)

PMID Text
26926881 Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease.
25809277 rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS.
24618918 MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease.
24123340 Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects.
22520921 The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L)
22330827 This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
21741665 Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China.
21383495 No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population.
20885792 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
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AA Sequence

MGTRLPLVLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAA      1 - 70
RDSIVREVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEI     71 - 140
IDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINLGKLVRGDAHECFVSPVAKAVIEL    141 - 210
LEKSGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLT    211 - 280
WIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHC    281 - 350
LKLQPLSPVPSDIEISRGQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGI    351 - 420
TPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQGPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIH    421 - 490
AITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINKTDPSTLTEEEVSK    491 - 560
FARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLG    561 - 630
RMVVASDKSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALK    631 - 700
LVGEEGFVVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEEN    701 - 770
IQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVD    771 - 840
LARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPICMAKT    841 - 910
HLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTETEQVKGLF      911 - 978
//

Text Mined References (42)

PMID Year Title
26926881 2016 Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25809277 2015 Rs6922269 marker at the MTHFD1L gene predict cardiovascular mortality in males after acute coronary syndrome.
24618918 2014 Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients.
24123340 2014 An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22520921 2012 Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
22330827 2012 Replication of the MTHFD1L gene association with late-onset Alzheimer's disease in a Northern Han Chinese population.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21741665 2011 The MTHFD1L gene rs11754661 marker is associated with susceptibility to Alzheimer's disease in the Chinese Han population.
More...