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23385 NCSTN

23385

NCSTN

nicastrin

protein-coding

Homo sapiens

基因描述

Type Description
Definition nicastrin

研究结论

Date Results Publications
2021-03-06 13:33:00 NCSTN promotes hepatocellular carcinoma cell growth and metastasis via beta-catenin activation in a Notch1/AKT dependent manner. 32631394
2019-11-02 10:58:00 The impaired EGFR signaling and its effects on epidermal differentiation were also observed in familial AI patients and Ncstn(DeltaKC) mice. Thus, our study showed that miR-30a-3p/RAB31/EGFR signaling pathway may play a key role in the pathogenesis of familial AI with NCSTN mutations. 30120935
2019-05-18 10:30:00 A heterozygous nonsense mutation (c.617C>A, p.S206X) was identified in NCSTN in the proband. This mutation in NCSTN also existed in the other AI patients but not in the two normal relatives and 50 control subjects. 30105992
2018-12-22 11:33:00 Identification of a novel deletion mutation in exon 4 of NCSTN, which may underlie the molecular pathogenesis in this Acne inversa family. 30030622
2018-12-01 11:45:00 A physical interaction between nicastrin (hNCT) and the gamma-secretase substrate amyloid beta-protein precursor (APPC100) confirmed the functionality of hNCT as a substrate recognizer. 28276527

名称对应

Type IDs
Synonymous ATAG1874
Gene
UniProtKB-ID: NICA_HUMAN, B4DR82_HUMAN
UniprotKB: Q92542, B4DR82
UniParc: UPI00017A7ADD, UPI00001D47D0, UPI0000042050
EMBL: AK314764, D87442, AK299142, AY359120, AL445230, AF240468, CH471121, BC047621
Ensembl: ENSG00000162736
KO: hsa:23385
Nucleutide sequences
EMBL-CDS: AAH47621.1, AAQ89478.1, EAW52721.1, EAW52720.1, EAW52722.1, AAG11412.1, BAG37302.1, BAA13383.1, BAG61194.1
Gene_ORFName: UNQ1874/PRO4317
Ensembl_TRS: ENST00000294785
Protein sequencees
Ensembl_PRO: ENSP00000294785
RefSeq: NP_001277115.1, XP_005245110.1, NP_056146.1, NP_001336658.1, NP_001277113.1
Others
UniRef100: UniRef100_Q92542, UniRef100_B4DR82
UniRef90: UniRef90_Q92542, UniRef90_H0WIR7
UniRef50: UniRef50_Q92542
UniGene: Hs.517249
CCDS: CCDS1203.1

全选

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