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5346 PLIN1

5346

PLIN1

perilipin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition perilipin 1

研究结论

Date Results Publications
2020-12-19 13:46:00 High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. 31877397
2020-05-30 13:17:00 Identification of two heterozygous PLIN1 frameshift variants segregating with the phenotype in nine patients from four unrelated families. The Familial partial lipodystrophy 4 stereotypical signs included postpubertal partial lipoatrophy of variable severity, muscular hypertrophy, acromegaloid features, polycystic ovary syndrome and/or hirsutism, metabolic complications. 31504636
2020-03-14 12:41:00 perilipin 1 is a promising marker for the differential diagnosis of liposarcomas from other soft tissue sarcomas, whereas perilipin 2 correlates negatively with tumor grade and may be therapeutically useful. 31125552
2019-11-23 10:15:00 Studied physiology of weight loss through gene expression of uncoupling protein 3(UCP3), perilipin 1 (PLIN1), and peroxisome proliferator activated receptor gamma (PPARG2) in obese female patients after low calorie diet intervention. With hypocaloric diet, found UCP3 reduced in obese patients and UCP3, PLIN1 and PPARG2 correlate positively with carbohydrate oxidation and negatively with lipid oxidation. 28651828
2019-07-13 11:49:00 Data indicate that perilipin 1 (PLIN1) specifically binds to cholesteryl esters, and that their dynamic properties direct segregation of perilipin 1 into topologically distinct micro domains on the lipid droplet. 29118433

名称对应

Type IDs
Synonymous FPLD4, PERI, PLIN
Gene
UniProtKB-ID: PLIN1_HUMAN
UniprotKB: O60240
UniParc: UPI000013E61C
EMBL: BC031084, AC013787, AB005293
Ensembl: ENSG00000166819
KO: hsa:5346
Nucleutide sequences
EMBL-CDS: AAH31084.1, BAA25420.1
Ensembl_TRS: ENST00000430628, ENST00000300055
Protein sequencees
Ensembl_PRO: ENSP00000402167, ENSP00000300055
RefSeq: NP_001138783.1, NP_002657.3, XP_005254991.1
Others
UniRef100: UniRef100_O60240
UniRef90: UniRef90_O60240
UniRef50: UniRef50_O60240
UniGene: Hs.103253
CCDS: CCDS10353.1

全选

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