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6653 SORL1

6653

SORL1

sortilin related receptor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition sortilin related receptor 1

研究结论

Date Results Publications
2020-07-25 10:37:00 SORL1 encodes SorLA, a key protein involved in the processing of the amyloid-beta (Abeta) precursor protein (APP) and the secretion of the Abeta peptide, the aggregation of which triggers AD pathophysiology. The association of SORL1 common and rare variants with AD risk is reviewed. A meta-analysis of published data on SORL1 rare variants in five large sequencing studies was performed. Review. 30911827
2020-06-06 12:45:00 higher serum level associated with adverse clinical outcomes in coronary artery disease 32350212
2020-06-06 10:24:00 LDLR, APOB, and ABCA1 mutations have been most frequently reported in familial hypercholesterolemia patients in the Middle East and North Africa region. (Review) 30694837
2020-02-15 13:01:00 The sLR11 increases during pregnancy, with levels further exaggerated in pre-eclampsia, and may be related to the pathology of pre-eclampsia. 31299181
2019-09-14 12:43:00 Data describe a transcript that encodes a truncated sorLA receptor, suggesting novel neuronal functions for sorLA and that alternative transcription provides a mechanism for SORL1 activity regulation. 30078640

名称对应

Type IDs
Synonymous C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250
Gene
UniProtKB-ID: SORL_HUMAN, A0A024R3H2_HUMAN
UniprotKB: Q92673, A0A024R3H2
UniParc: UPI0000049047, UPI000013D0B1
EMBL: U60975, AP000664, Y08110, BC137171, CH471065, AP000977
Ensembl: ENSG00000137642
KO: hsa:6653
Nucleutide sequences
EMBL-CDS: EAW67525.1, AAC50891.2, CAA69325.1, AAI37172.1, EAW67526.1, EAW67527.1
Gene_ORFName: hCG_14958
Ensembl_TRS: ENST00000260197
Protein sequencees
Ensembl_PRO: ENSP00000260197
RefSeq: NP_003096.2
Others
UniRef100: UniRef100_Q92673, UniRef100_A0A024R3H2
UniRef90: UniRef90_Q92673
UniRef50: UniRef50_Q92673
UniGene: Hs.368592
CCDS: CCDS8436.1

全选

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