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116085 SLC22A12

116085

SLC22A12

solute carrier family 22 member 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 22 member 12

研究结论

Date Results Publications
2021-04-13 10:11:00 Uric Acid Has Direct Proinflammatory Effects on Human Macrophages by Increasing Proinflammatory Mediators and Bacterial Phagocytosis Probably via URAT1. 32283759
2021-03-28 19:06:00 Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. 33011794
2021-02-27 13:48:00 Glucose, Fructose, and Urate Transporters in the Choroid Plexus Epithelium. 33008107
2020-10-31 13:16:00 Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes. 31591475
2020-07-18 11:22:00 We found a case of Renal hypouricemia carrying mutations in SLC22A12 gene accompanied with compensatory mutations associated with hyperuricemia, representing the first report showing coexistence of the mutations with opposed potential to regulate urate concentrations. 32375679

名称对应

Type IDs
Synonymous OAT4L, RST, URAT1
Gene
UniProtKB-ID: S22AC_HUMAN, B3KP53_HUMAN
UniprotKB: Q96S37, B3KP53
UniParc: UPI0000040C17, UPI000066D8F5, UPI00001A8285, UPI000014140D, UPI000204AEBB
EMBL: BC053348, DQ514594, AY358183, AK055737, AC044790, AP001092, AB071863, AB050269, DQ514596, DQ514593, AK315061, DQ514595, CH471076
Ensembl: ENSG00000197891
KO: hsa:116085
Nucleutide sequences
EMBL-CDS: ABF74570.1, ABF74572.1, ABF74573.1, EAW74273.1, BAB68364.1, AAK68156.1, AAH53348.1, BAB96750.1, EAW74274.1, AAQ88550.1, ABF74571.1, BAG51565.1
Gene_ORFName: UNQ6453/PRO34004
Ensembl_TRS: ENST00000336464, ENST00000377567, ENST00000377572, ENST00000377574, ENST00000473690
Protein sequencees
Ensembl_PRO: ENSP00000366795, ENSP00000366790, ENSP00000366797, ENSP00000336836, ENSP00000438437
RefSeq: NP_653186.2, XP_006718493.1, XP_006718494.1, NP_700357.1, NP_001263255.1, NP_001263256.1
Others
UniRef100: UniRef100_B3KP53, UniRef100_Q96S37
UniRef90: UniRef90_Q96S37, UniRef90_B3KP53
UniRef50: UniRef50_A0A1S3W6Y8, UniRef50_Q96S37
UniGene: Hs.174424, Hs.700182
CCDS: CCDS60835.1, CCDS60836.1, CCDS8075.1

全选

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