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10558 SPTLC1

10558

SPTLC1

serine palmitoyltransferase long chain base subunit 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition serine palmitoyltransferase long chain base subunit 1

研究结论

Date Results Publications
2020-06-27 11:41:00 Yhe results revealed that forced expression of SPTLC1 could significantly inhibit cell growth in vitro and in vivo via, at least in part, modulating Akt/FOXO1 signaling pathway, thus representing a novel role of SPTLC1 in the regulation of tumor growth in renal cell carcinoma (RCC). 31554600
2019-10-26 11:13:00 Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. 31509666
2019-10-19 10:05:00 This study accomplished a cell-free reconstitution of the sphingolipid regulation of the ORMDL3-SPTLC1 complex to probe the underlying regulatory mechanism. Sphingolipid and ORMDL-dependent regulation of SPTLC1 was demonstrated in isolated membranes, essentially free of cytosol. This suggests that this regulation does not require soluble cytosolic proteins or small molecules such as ATP. 30700557
2017-06-10 10:26:00 Therefore, SPT may be an attractive therapeutic anti-cancer drug target for which compound-2 may be a promising new drug. 28108287
2016-12-17 12:11:00 Hereditary sensory and autonomic neuropathy type 1 mutations in SPTLC1 have distinct biochemical properties, which allowed for the prediction of the clinical symptoms on the basis of the plasma sphingoid base profile. 26681808

名称对应

Type IDs
Synonymous HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
Gene
UniProtKB-ID: SPTC1_HUMAN, Q6NUL7_HUMAN, A0A024R277_HUMAN
UniprotKB: O15269, Q6NUL7, A0A024R277
UniParc: UPI000012E27B, UPI000035367C, UPI0000073725
EMBL: BC007085, AF286705, AF286703, Y08685, AF286711, AL354751, AF286717, AF286712, AK291546, AF286707, AF286710, AF286713, AF286709, AF286708, AF286715, CH471089, AF286716, AF286706, AL391219, AF286704, BC068537, AF286714
Ensembl: ENSG00000090054
KO: hsa:10558
Nucleutide sequences
EMBL-CDS: EAW62804.1, AAH07085.1, AAK29328.1, BAF84235.1, CAA69941.1, AAH68537.1, EAW62805.1
Gene_ORFName: hCG_1985323
Ensembl_TRS: ENST00000262554, ENST00000337841
Protein sequencees
Ensembl_PRO: ENSP00000262554, ENSP00000337635
RefSeq: XP_016869690.1, NP_001355201.1, NP_006406.1, NP_001355202.1, XP_024303147.1, XP_011516440.1, NP_001268232.1, NP_847894.1, XP_024303146.1
Others
UniRef100: UniRef100_O15269, UniRef100_Q6NUL7
UniRef90: UniRef90_O15269, UniRef90_Q5R9T5
UniRef50: UniRef50_O35704, UniRef50_O15269
UniGene: Hs.90458
CCDS: CCDS6692.1, CCDS6693.1

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