Type | Description |
---|---|
Definition | solute carrier family 52 member 1 |
Date | Results | Publications |
---|---|---|
2019-07-06 10:03:00 | In the in vitro model, exposing Caco-2 cells to tumor necrosis factor-alpha (TNF-alpha) led to a significant inhibition in RF uptake, an effect that was abrogated upon knocking down TNF receptor 1 (TNFR1). The inhibition in RF uptake was associated with a significant reduction in the expression of hRFVT-3 and -1 protein and mRNA levels, as well as in the activity of the SLC52A3 and SLC52A1 promoters | 30156861 |
2018-09-01 10:44:00 | We here report a case of transient MADD, caused by a heterozygous intronic variation, c.1134+11G>A, in the SLC52A1 gene encoding RFVT1. This variation creates a binding site for the splice inhibitory hnRNP A1 protein and causes exon 4 skipping. Riboflavin deficiency and maternal malnutrition during pregnancy might have been the determining factor in the outcome of this case. | 29122468 |
2018-05-26 11:11:00 | In HT-29 cells, the RFVT1 protein level was drastically lower. In tumor tissues of patients with CRC, RFVT1 content was reduced at both protein and mRNA levels compared to normal mucosa. | 29715086 |
2015-02-07 11:47:00 | results are the first to reveal the identity of the minimal SLC52A1 promoter and to establish an important role for Sp-1 in its activity | 25284511 |
2014-06-28 10:27:00 | data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative. | 24139842 |
Type | IDs |
---|---|
Synonymous | GPCR42, GPR172B, PAR2, RBFVD, RFT1, RFVT1, hRFT1 |
Gene |
UniProtKB-ID:
S52A1_HUMAN
UniprotKB:
Q9NWF4
UniParc:
UPI00018118B0,
UPI000013CE68
EMBL:
BC092473,
AB362533,
BC060810,
AY070775,
CH471108,
AB362534,
AK000922,
AC012146
Ensembl:
ENSG00000132517
KO:
hsa:55065
|
Nucleutide sequences |
EMBL-CDS:
BAG71128.1,
EAW90363.1,
BAG71129.1,
AAH60810.1,
AAL59883.1,
EAW90364.1,
AAH92473.1,
BAA91427.1
Ensembl_TRS:
ENST00000424747,
ENST00000254853
|
Protein sequencees |
Ensembl_PRO:
ENSP00000399979,
ENSP00000254853
RefSeq:
NP_060456.3,
NP_001098047.1,
XP_011522253.1
|
Others |
UniRef100:
UniRef100_Q9NWF4
UniRef90:
UniRef90_Q9NWF4
UniRef50:
UniRef50_Q9NWF4
UniGene:
Hs.632247
CCDS:
CCDS11066.1
|
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Refseq |
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