Property Summary

NCBI Gene PubMed Count 156
Grant Count 10
R01 Count 7
Funding $1,018,520.75
PubMed Score 26.54
PubTator Score 112.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Gene RIF (128)

PMID Text
25778468 We conclude that bearing allele G of rs1051266 polymorphism in RFC1 may contribute to increased efficacy of MTX treatment and may contribute to improved outcome in osteosarcoma patients
25730024 We found that the compound mutation genotypes MTHFD-G1958A, MTR-A2756G, and RFC1-G80A increased the risk of preterm birth (OR = 2.88, 95%CI = 1.08-7.72, P = 0.028).
25697897 this is the first study to simultaneously evaluate both DNA methylation and protein expression of all three folate transporter genes, FOLR1, PCFT, and RFC1, in colorectal cancer.
25536437 The frequency of RFC-1 rs1051266 (G80A) was 58.4% and 57.1% in children with nephroblastoma and neuroblastoma, respectively. Mother and child G80A genotypes play a role in the risk of neuroblastoma and nephroblastoma.
25071216 RFC depletion had a negative impact on LANA's ability to replicate and maintain viral DNA in cells containing artificial KSHV episomes or in infected cells, leading to loss of virus.
24942095 3 biallelic polymorphic variants (rs1051266, rs4818789 and rs3788205) were selected. Results provided support suggesting role of RFC1 in NSCL/P etiology, reinforcing idea genetic predisposition to NSCL/P varies in different ethnic groups.
24333266 One-carbon genetic variants influence epigenetic of MHC2TA and RFC1, thus contributing to phenotypic heterogeneity of systemic lupus erythematosus.
23857226 Maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with Down Syndrome. [Meta-analysis]
23430030 The combined presence of RFC1 mutant alleles and the cystathionine b-synthase homozygous mutant allele was associated with a 4.81-fold increased risk of having a child with Down syndrome (95 % CI 1.82-12.68, P = 0.0007).
23336575 The presence of the mutant MTHFR 1298C and also RFC 80A was linked to a decreased risk of developing chidlhood acute lymphoid leukemia (ALL).
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AA Sequence

MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPSKKKRIIYDSD      1 - 70
SESEETLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKKAASKSKENGRSTNSHLGTSN     71 - 140
MKKNEENTKTKNKPLSPIKLTPTSVLDYFGTGSVQRSNKKMVASKRKELSQNTDESGLNDEAIAKQLQLD    141 - 210
EDAELERQLHEDEEFARTLAMLDEEPKTKKARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERK    211 - 280
SYSPRKQSKYESSKESQQHSKSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGE    281 - 350
TKTPKKTKSSPAKKESVSPEDSEKKRTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLES    351 - 420
IERDEAKSLIERYGGKVTGNVSKKTNYLVMGRDSGQSKSDKAAALGTKIIDEDGLLNLIRTMPGKKSKYE    421 - 490
IAVETEMKKESKLERTPQKNVQGKRKISPSKKESESKKSRPTSKRDSLAKTIKKETDVFWKSLDFKEQVA    491 - 560
EETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIGQQGDQSCANKLLRWLRNWQKSSSEDKKHAA    561 - 630
KFGKFSGKDDGSSFKAALLSGPPGVGKTTTASLVCQELGYSYVELNASDTRSKSSLKAIVAESLNNTSIK    631 - 700
GFYSNGAASSVSTKHALIMDEVDGMAGNEDRGGIQELIGLIKHTKIPIICMCNDRNHPKIRSLVHYCFDL    701 - 770
RFQRPRVEQIKGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARSKALTYDQAKADSHRA    771 - 840
KKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGDMKKHLMLLSR    841 - 910
AADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFPSWLGKHSSTGKHDRIVQDLA    911 - 980
LHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQDVVALMDTYYLMKEDFENIMEISSWGGKPSP    981 - 1050
FSKLDPKVKAAFTRAYNKEAHLTPYSLQAIKASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMI   1051 - 1120
KKKTKSSKPSKPEKDKEPRKGKGKSSKK                                             1121 - 1148
//

Text Mined References (167)

PMID Year Title
25778468 2015 Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25730024 2015 Association between SNPs in genes involved in folate metabolism and preterm birth risk.
25697897 2015 DNA methylation and expression of the folate transporter genes in colorectal cancer.
25536437 2015 RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma.
25071216 2014 Kaposi's sarcoma-associated herpesvirus LANA recruits the DNA polymerase clamp loader to mediate efficient replication and virus persistence.
24942095 2014 RFC1 and non-syndromic cleft lip with or without cleft palate: an association based study in Italy.
24333266 2014 Epigenetic modulation of RFC1, MHC2TA and HLA-DR in systemic lupus erythematosus: association with serological markers and six functional polymorphisms of one-carbon metabolic pathway.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
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