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5137 PDE1C

5137

PDE1C

phosphodiesterase 1C

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphodiesterase 1C

研究结论

Date Results Publications
2019-03-30 10:53:00 By combining population-specific mutation arrays, targeted deafness genes panel, whole exome sequencing (WES), we identified PDE1C (Phosphodiesterase 1C) c.958G>T (p.A320S) as the disease-associated variant. Structural modeling insights into p.A320S strongly suggest that the sequence alteration will likely affect the substrate-binding pocket of PDE1C. 29860631
2016-06-28 11:30:00 PDE1C is a proliferation-associated gene in glioblastoma multiforme cells in vitro. 25620587
2015-06-20 10:51:00 PDE1C is an important regulator of SMC proliferation, migration, and neointimal hyperplasia, in part through modulating endosome/lysosome-dependent PDGFRbeta protein degradation via low-density lipoprotein receptor-related protein-1. 25608528
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-04-07 21:40:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20110084

名称对应

Type IDs
Synonymous DFNA74, Hcam3, cam-PDE 1C, hCam-3
Gene
UniProtKB-ID: PDE1C_HUMAN, A0A0A0MS69_HUMAN
UniprotKB: Q14123, A0A0A0MS69
UniParc: UPI000292A276, UPI000002A6C9, UPI0000127BE9, UPI00043788D1
EMBL: KF511020, AC004931, AC005589, AC006377, AC007033, AK056170, AC007093, AC018637, AK091734, U40371, KF511018, U40372, KF458427
Ensembl: ENSG00000154678
KO: hsa:5137
Nucleutide sequences
EMBL-CDS: AAA96961.1, BAG51638.1, AAC50437.1, BAC03734.1
Ensembl_TRS: ENST00000396182, ENST00000396184, ENST00000321453, ENST00000396191, ENST00000396193
Protein sequencees
Ensembl_PRO: ENSP00000379494, ENSP00000379485, ENSP00000379487, ENSP00000318105, ENSP00000379496
RefSeq: NP_001308985.1, XP_016867756.1, NP_001308987.1, NP_001177987.2, NP_001177986.1, XP_016867754.1, NP_001177985.1, NP_001308988.1, XP_016867755.1, NP_005011.1, NP_001177988.1, NP_001308984.1, NP_001308986.1, XP_016867753.1
Others
UniRef100: UniRef100_Q14123, UniRef100_A0A0A0MS69
UniRef90: UniRef90_Q14123
UniRef50: UniRef50_Q14123
UniGene: Hs.728862
CCDS: CCDS5437.1, CCDS55099.1, CCDS55100.1

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