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6509 SLC1A4

6509

SLC1A4

solute carrier family 1 member 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 1 member 4

研究结论

Date Results Publications
2018-06-16 11:21:00 Results suggest that ASCT1/2 may play an important role in regulating extracellular d-serine and NMDA receptor-mediated physiological effects and that ASCT1/2 inhibitors have the potential for therapeutic benefit. 28807674
2017-08-12 10:56:00 ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters 27909246
2017-04-08 11:36:00 SLC1A4 deficiency should not be considered a population-specific disorder, and all patients with unexplained severe neurodevelopmental delay and the features outlined should be investigated regardless of ethnicity, as there are no known metabolic markers of this potentially treatable condition. 27193218
2016-07-02 10:58:00 SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin corpus callosum. 26138499
2016-05-07 11:57:00 ASCT1 is essential in brain serine transport. 26041762

名称对应

Type IDs
Synonymous ASCT1, SATT, SPATCCM
Gene
UniProtKB-ID: SATT_HUMAN
UniprotKB: P43007
UniParc: UPI000000129F, UPI0001914B7B
EMBL: AC007386, U05231, U05235, AK295687, L19444, U05230, L14595, BC026216, BC072423, U05234, U05232, U05233, CH471053, U05229
Ensembl: ENSG00000115902
KO: hsa:6509
Nucleutide sequences
EMBL-CDS: AAH26216.1, AAC51349.1, AAA02761.1, EAW99932.1, EAW99933.1, AAF03519.1, BAH12156.1, AAA19438.1, AAH72423.1
Ensembl_TRS: ENST00000234256, ENST00000531327
Protein sequencees
Ensembl_PRO: ENSP00000234256, ENSP00000431942
RefSeq: NP_001180422.1, NP_001335336.1, NP_003029.2, NP_001335335.1
Others
UniRef100: UniRef100_P43007
UniRef90: UniRef90_P43007
UniRef50: UniRef50_P43007
UniGene: Hs.654352
CCDS: CCDS54362.1, CCDS1879.1

全选

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研究热度

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