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284111 SLC13A5

284111

SLC13A5

solute carrier family 13 member 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 13 member 5

研究结论

Date Results Publications
2021-04-17 13:12:00 Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. 33063863
2021-04-13 10:13:00 Structure and inhibition mechanism of the human citrate transporter NaCT. 33597751
2021-01-02 12:50:00 A dynamic anchor domain in slc13 transporters controls metabolite transport. 32152229
2019-10-26 10:12:00 We demonstrated that all proteins were synthesized with an identical molecular weight as the wild-type transporter but several mutations (NaCTp.G219R, -p.G219E, -p.T227M, -p.L420P and -p.L488P) lead to a complete loss of NaCT-mediated citrate transport. This loss of transport activity can be explained on the basis of the developed structural model. 30054523
2017-11-04 10:37:00 SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS. 27600704

名称对应

Type IDs
Synonymous EIEE25, INDY, NACT, mIndy
Gene
UniProtKB-ID: S13A5_HUMAN, Q68D44_HUMAN
UniprotKB: Q86YT5, Q68D44
UniParc: UPI000000D834, UPI000041A16D, UPI00015B6E95, UPI00004A28B4, UPI0002064F6E
EMBL: AK297612, CR749584, AK172785, AY151833, AC004706, CH471108, BC104795, BC143689, BC112151, AK127797
Ensembl: ENSG00000141485
KO: hsa:284111
Nucleutide sequences
EMBL-CDS: BAG54572.1, BAH12628.1, AAI04796.1, AAN86530.1, AAI12152.1, BAD18766.1, AAI43690.1, EAW90292.1, CAH18382.1
Ensembl_TRS: ENST00000433363, ENST00000293800, ENST00000381074, ENST00000573648
Protein sequencees
Ensembl_PRO: ENSP00000370464, ENSP00000406220, ENSP00000293800, ENSP00000459372
RefSeq: XP_011522097.1, NP_808218.1, NP_001271438.1, NP_001271439.1, NP_001137310.1
Others
UniRef100: UniRef100_Q86YT5
UniRef90: UniRef90_Q86YT5
UniRef50: UniRef50_Q86YT5
UniGene: Hs.399496
CCDS: CCDS67136.1, CCDS11079.1, CCDS67137.1, CCDS45593.1

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