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55065 SLC52A1

55065

SLC52A1

solute carrier family 52 member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 52 member 1

研究结论

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

名称对应

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

全选

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