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5122 PCSK1

5122

PCSK1

proprotein convertase subtilisin/kexin type 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition proprotein convertase subtilisin/kexin type 1

研究结论

Date Results Publications
2021-01-02 12:50:00 Revisiting Proinsulin Processing: Evidence That Human beta-Cells Process Proinsulin With Prohormone Convertase (PC) 1/3 but Not PC2. 32291281
2020-11-21 13:15:00 PPIP5K2 and PCSK1 are Contributors to Familial Keratoconus. 31852976
2019-12-28 10:54:00 increased obesity risk linked to N221D allele may be due in part to PC1/3-induced loss of resilience to stressors rather than strictly to decreased enzymatic activity on peptide precursors 31504391
2018-11-10 12:22:00 we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C), and identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function. In addition to confirming rs6232 and rs6234 in PCSK1 as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism. 28271036
2018-01-20 11:58:00 investigation of the pathogenesis of obesity in the PC1/3-N222D mouse model and whether this molecular mechanism also applies to common and rare human PCSK1 mutations 26786350

名称对应

Type IDs
Synonymous BMIQ12, NEC1, PC1, PC3, SPC3
Gene
UniProtKB-ID: NEC1_HUMAN
UniprotKB: P29120
UniParc: UPI000013F0F5, UPI0001D1692D
EMBL: U24128, AC008951, M90753, AC108107, AK303888, D73407, X64810
Ensembl: ENSG00000175426
KO: hsa:5122
Nucleutide sequences
EMBL-CDS: AAA73788.1, BAA11133.1, BAH14073.1, AAA59918.1, CAA46031.1
Ensembl_TRS: ENST00000508626, ENST00000311106
Protein sequencees
Ensembl_PRO: ENSP00000421600, ENSP00000308024
RefSeq: NP_000430.3, NP_001171346.1
Others
UniRef100: UniRef100_P29120
UniRef90: UniRef90_P29120
UniRef50: UniRef50_P29120
UniGene: Hs.78977
CCDS: CCDS4081.1, CCDS54881.1

全选

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