NCSTN (nicastrin)

Gene

• Entrez ID: 23385
• Gene name: Nicastrin
• Gene symbol: NCSTN
• Synonyms (NCBI Gene): ATAG1874
• Chromosome: 1
• Chromosome location: 1q23.2
• Summary: This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906896	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307081	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, downstream transcript variant
rs1347055289	G>A	Pathogenic	Splice donor variant
rs1553210405	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553210984	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553211087	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1571202126	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030869	hsa-miR-21-5p	Sequencing	20371350
MIRT047572	hsa-miR-10a-5p	CLASH	23622248
MIRT042811	hsa-miR-339-5p	CLASH	23622248
MIRT039146	hsa-miR-769-5p	CLASH	23622248
MIRT038892	hsa-miR-93-3p	CLASH	23622248
MIRT438454	hsa-miR-24-3p	Luciferase reporter assay, ELISA	25100943
MIRT438453	hsa-miR-186-5p	Luciferase reporter assay, ELISA	25100943
MIRT438452	hsa-miR-455-5p	Luciferase reporter assay, ELISA	25100943
MIRT438454	hsa-miR-24-3p	Luciferase reporter assay, ELISA	25100943
MIRT438453	hsa-miR-186-5p	Luciferase reporter assay, ELISA	25100943
MIRT438452	hsa-miR-455-5p	Luciferase reporter assay, ELISA	25100943
MIRT732051	hsa-miR-16-5p	ELISA, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26440600
MIRT732051	hsa-miR-16-5p	ELISA, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	26440600
MIRT1177763	hsa-miR-1252	CLIP-seq
MIRT1177764	hsa-miR-1266	CLIP-seq
MIRT1177765	hsa-miR-1273g	CLIP-seq
MIRT1177766	hsa-miR-1302	CLIP-seq
MIRT1177767	hsa-miR-1321	CLIP-seq
MIRT1177768	hsa-miR-140-5p	CLIP-seq
MIRT1177769	hsa-miR-145	CLIP-seq
MIRT1177770	hsa-miR-1587	CLIP-seq
MIRT1177771	hsa-miR-1825	CLIP-seq
MIRT1177772	hsa-miR-1915	CLIP-seq
MIRT1177773	hsa-miR-199a-5p	CLIP-seq
MIRT1177774	hsa-miR-199b-5p	CLIP-seq
MIRT1177775	hsa-miR-2054	CLIP-seq
MIRT1177776	hsa-miR-2110	CLIP-seq
MIRT1177777	hsa-miR-24	CLIP-seq
MIRT1177778	hsa-miR-31	CLIP-seq
MIRT1177779	hsa-miR-3123	CLIP-seq
MIRT1177780	hsa-miR-3125	CLIP-seq
MIRT1177781	hsa-miR-3126-3p	CLIP-seq
MIRT1177782	hsa-miR-3128	CLIP-seq
MIRT1177783	hsa-miR-3135b	CLIP-seq
MIRT1177784	hsa-miR-3140-5p	CLIP-seq
MIRT1177785	hsa-miR-3148	CLIP-seq
MIRT1177786	hsa-miR-3150b-3p	CLIP-seq
MIRT1177787	hsa-miR-3153	CLIP-seq
MIRT1177788	hsa-miR-3154	CLIP-seq
MIRT1177789	hsa-miR-3160-3p	CLIP-seq
MIRT1177790	hsa-miR-3179	CLIP-seq
MIRT1177791	hsa-miR-3202	CLIP-seq
MIRT1177792	hsa-miR-320a	CLIP-seq
MIRT1177793	hsa-miR-320b	CLIP-seq
MIRT1177794	hsa-miR-320c	CLIP-seq
MIRT1177795	hsa-miR-320d	CLIP-seq
MIRT1177796	hsa-miR-320e	CLIP-seq
MIRT1177797	hsa-miR-323b-5p	CLIP-seq
MIRT1177798	hsa-miR-3545-3p	CLIP-seq
MIRT1177799	hsa-miR-3545-5p	CLIP-seq
MIRT1177800	hsa-miR-3622b-5p	CLIP-seq
MIRT1177801	hsa-miR-3652	CLIP-seq
MIRT1177802	hsa-miR-3689d	CLIP-seq
MIRT1177803	hsa-miR-3909	CLIP-seq
MIRT1177804	hsa-miR-3916	CLIP-seq
MIRT1177805	hsa-miR-3925-5p	CLIP-seq
MIRT1177806	hsa-miR-3936	CLIP-seq
MIRT1177807	hsa-miR-4265	CLIP-seq
MIRT1177808	hsa-miR-4270	CLIP-seq
MIRT1177809	hsa-miR-4271	CLIP-seq
MIRT1177810	hsa-miR-4296	CLIP-seq
MIRT1177811	hsa-miR-4298	CLIP-seq
MIRT1177812	hsa-miR-4318	CLIP-seq
MIRT1177813	hsa-miR-4322	CLIP-seq
MIRT1177814	hsa-miR-4417	CLIP-seq
MIRT1177815	hsa-miR-4428	CLIP-seq
MIRT1177816	hsa-miR-4429	CLIP-seq
MIRT1177817	hsa-miR-4430	CLIP-seq
MIRT1177818	hsa-miR-4436b-3p	CLIP-seq
MIRT1177819	hsa-miR-4441	CLIP-seq
MIRT1177820	hsa-miR-4460	CLIP-seq
MIRT1177821	hsa-miR-4468	CLIP-seq
MIRT1177822	hsa-miR-4476	CLIP-seq
MIRT1177823	hsa-miR-4487	CLIP-seq
MIRT1177824	hsa-miR-4492	CLIP-seq
MIRT1177825	hsa-miR-4498	CLIP-seq
MIRT1177826	hsa-miR-4504	CLIP-seq
MIRT1177827	hsa-miR-4518	CLIP-seq
MIRT1177828	hsa-miR-4533	CLIP-seq
MIRT1177829	hsa-miR-4645-3p	CLIP-seq
MIRT1177830	hsa-miR-4648	CLIP-seq
MIRT1177831	hsa-miR-4654	CLIP-seq
MIRT1177832	hsa-miR-4656	CLIP-seq
MIRT1177833	hsa-miR-4663	CLIP-seq
MIRT1177834	hsa-miR-4668-5p	CLIP-seq
MIRT1177835	hsa-miR-4675	CLIP-seq
MIRT1177836	hsa-miR-4689	CLIP-seq
MIRT1177837	hsa-miR-4690-3p	CLIP-seq
MIRT1177838	hsa-miR-4708-5p	CLIP-seq
MIRT1177839	hsa-miR-4710	CLIP-seq
MIRT1177840	hsa-miR-4720-5p	CLIP-seq
MIRT1177841	hsa-miR-4725-3p	CLIP-seq
MIRT1177842	hsa-miR-4727-3p	CLIP-seq
MIRT1177843	hsa-miR-4731-5p	CLIP-seq
MIRT1177844	hsa-miR-4733-5p	CLIP-seq
MIRT1177845	hsa-miR-4739	CLIP-seq
MIRT1177846	hsa-miR-4741	CLIP-seq
MIRT1177847	hsa-miR-4747-5p	CLIP-seq
MIRT1177848	hsa-miR-4749-3p	CLIP-seq
MIRT1177849	hsa-miR-4756-3p	CLIP-seq
MIRT1177850	hsa-miR-4756-5p	CLIP-seq
MIRT1177851	hsa-miR-4769-5p	CLIP-seq
MIRT1177852	hsa-miR-4784	CLIP-seq
MIRT1177853	hsa-miR-4799-3p	CLIP-seq
MIRT1177854	hsa-miR-548n	CLIP-seq
MIRT1177855	hsa-miR-555	CLIP-seq
MIRT1177856	hsa-miR-558	CLIP-seq
MIRT1177857	hsa-miR-615-5p	CLIP-seq
MIRT1177858	hsa-miR-762	CLIP-seq
MIRT2051467	hsa-miR-1225-5p	CLIP-seq
MIRT2051468	hsa-miR-4447	CLIP-seq
MIRT2051469	hsa-miR-4472	CLIP-seq
MIRT1177822	hsa-miR-4476	CLIP-seq
MIRT2051470	hsa-miR-4505	CLIP-seq
MIRT2051471	hsa-miR-4651	CLIP-seq
MIRT1177839	hsa-miR-4710	CLIP-seq
MIRT2051472	hsa-miR-608	CLIP-seq
MIRT1177763	hsa-miR-1252	CLIP-seq
MIRT1177765	hsa-miR-1273g	CLIP-seq
MIRT1177766	hsa-miR-1302	CLIP-seq
MIRT1177767	hsa-miR-1321	CLIP-seq
MIRT1177768	hsa-miR-140-5p	CLIP-seq
MIRT1177771	hsa-miR-1825	CLIP-seq
MIRT1177773	hsa-miR-199a-5p	CLIP-seq
MIRT1177774	hsa-miR-199b-5p	CLIP-seq
MIRT1177786	hsa-miR-3150b-3p	CLIP-seq
MIRT1177787	hsa-miR-3153	CLIP-seq
MIRT1177790	hsa-miR-3179	CLIP-seq
MIRT1177791	hsa-miR-3202	CLIP-seq
MIRT1177797	hsa-miR-323b-5p	CLIP-seq
MIRT1177799	hsa-miR-3545-5p	CLIP-seq
MIRT2280494	hsa-miR-3612	CLIP-seq
MIRT1177801	hsa-miR-3652	CLIP-seq
MIRT2280495	hsa-miR-3657	CLIP-seq
MIRT1177806	hsa-miR-3936	CLIP-seq
MIRT1177811	hsa-miR-4298	CLIP-seq
MIRT1177817	hsa-miR-4430	CLIP-seq
MIRT1177818	hsa-miR-4436b-3p	CLIP-seq
MIRT2051468	hsa-miR-4447	CLIP-seq
MIRT1177820	hsa-miR-4460	CLIP-seq
MIRT1177821	hsa-miR-4468	CLIP-seq
MIRT2051469	hsa-miR-4472	CLIP-seq
MIRT1177822	hsa-miR-4476	CLIP-seq
MIRT1177826	hsa-miR-4504	CLIP-seq
MIRT1177828	hsa-miR-4533	CLIP-seq
MIRT1177830	hsa-miR-4648	CLIP-seq
MIRT2051471	hsa-miR-4651	CLIP-seq
MIRT1177834	hsa-miR-4668-5p	CLIP-seq
MIRT2280496	hsa-miR-4669	CLIP-seq
MIRT1177836	hsa-miR-4689	CLIP-seq
MIRT1177839	hsa-miR-4710	CLIP-seq
MIRT1177842	hsa-miR-4727-3p	CLIP-seq
MIRT1177845	hsa-miR-4739	CLIP-seq
MIRT1177847	hsa-miR-4747-5p	CLIP-seq
MIRT1177850	hsa-miR-4756-5p	CLIP-seq
MIRT1177852	hsa-miR-4784	CLIP-seq
MIRT1177854	hsa-miR-548n	CLIP-seq
MIRT2280497	hsa-miR-592	CLIP-seq
MIRT2280498	hsa-miR-599	CLIP-seq
MIRT2051472	hsa-miR-608	CLIP-seq
MIRT2280499	hsa-miR-650	CLIP-seq
MIRT2280500	hsa-miR-658	CLIP-seq
MIRT1177765	hsa-miR-1273g	CLIP-seq
MIRT1177767	hsa-miR-1321	CLIP-seq
MIRT1177768	hsa-miR-140-5p	CLIP-seq
MIRT1177769	hsa-miR-145	CLIP-seq
MIRT1177771	hsa-miR-1825	CLIP-seq
MIRT1177772	hsa-miR-1915	CLIP-seq
MIRT1177773	hsa-miR-199a-5p	CLIP-seq
MIRT1177774	hsa-miR-199b-5p	CLIP-seq
MIRT1177797	hsa-miR-323b-5p	CLIP-seq
MIRT1177799	hsa-miR-3545-5p	CLIP-seq
MIRT2280495	hsa-miR-3657	CLIP-seq
MIRT1177808	hsa-miR-4270	CLIP-seq
MIRT1177819	hsa-miR-4441	CLIP-seq
MIRT1177820	hsa-miR-4460	CLIP-seq
MIRT1177826	hsa-miR-4504	CLIP-seq
MIRT2280496	hsa-miR-4669	CLIP-seq
MIRT1177842	hsa-miR-4727-3p	CLIP-seq
MIRT1177845	hsa-miR-4739	CLIP-seq
MIRT1177850	hsa-miR-4756-5p	CLIP-seq
MIRT2280497	hsa-miR-592	CLIP-seq
MIRT2280498	hsa-miR-599	CLIP-seq
MIRT2051467	hsa-miR-1225-5p	CLIP-seq
MIRT1177763	hsa-miR-1252	CLIP-seq
MIRT1177765	hsa-miR-1273g	CLIP-seq
MIRT1177766	hsa-miR-1302	CLIP-seq
MIRT1177767	hsa-miR-1321	CLIP-seq
MIRT1177768	hsa-miR-140-5p	CLIP-seq
MIRT1177769	hsa-miR-145	CLIP-seq
MIRT1177771	hsa-miR-1825	CLIP-seq
MIRT2578921	hsa-miR-186	CLIP-seq
MIRT1177772	hsa-miR-1915	CLIP-seq
MIRT1177773	hsa-miR-199a-5p	CLIP-seq
MIRT1177774	hsa-miR-199b-5p	CLIP-seq
MIRT1177778	hsa-miR-31	CLIP-seq
MIRT1177782	hsa-miR-3128	CLIP-seq
MIRT1177784	hsa-miR-3140-5p	CLIP-seq
MIRT1177785	hsa-miR-3148	CLIP-seq
MIRT1177786	hsa-miR-3150b-3p	CLIP-seq
MIRT1177788	hsa-miR-3154	CLIP-seq
MIRT1177789	hsa-miR-3160-3p	CLIP-seq
MIRT2578922	hsa-miR-3162-5p	CLIP-seq
MIRT1177790	hsa-miR-3179	CLIP-seq
MIRT1177792	hsa-miR-320a	CLIP-seq
MIRT1177793	hsa-miR-320b	CLIP-seq
MIRT1177794	hsa-miR-320c	CLIP-seq
MIRT1177795	hsa-miR-320d	CLIP-seq
MIRT1177796	hsa-miR-320e	CLIP-seq
MIRT1177797	hsa-miR-323b-5p	CLIP-seq
MIRT1177798	hsa-miR-3545-3p	CLIP-seq
MIRT1177799	hsa-miR-3545-5p	CLIP-seq
MIRT1177801	hsa-miR-3652	CLIP-seq
MIRT2280495	hsa-miR-3657	CLIP-seq
MIRT2578923	hsa-miR-3667-3p	CLIP-seq
MIRT1177808	hsa-miR-4270	CLIP-seq
MIRT1177811	hsa-miR-4298	CLIP-seq
MIRT2578924	hsa-miR-4424	CLIP-seq
MIRT1177816	hsa-miR-4429	CLIP-seq
MIRT1177817	hsa-miR-4430	CLIP-seq
MIRT1177818	hsa-miR-4436b-3p	CLIP-seq
MIRT1177819	hsa-miR-4441	CLIP-seq
MIRT2051468	hsa-miR-4447	CLIP-seq
MIRT1177820	hsa-miR-4460	CLIP-seq
MIRT1177821	hsa-miR-4468	CLIP-seq
MIRT2051469	hsa-miR-4472	CLIP-seq
MIRT1177822	hsa-miR-4476	CLIP-seq
MIRT1177823	hsa-miR-4487	CLIP-seq
MIRT1177826	hsa-miR-4504	CLIP-seq
MIRT2051470	hsa-miR-4505	CLIP-seq
MIRT1177828	hsa-miR-4533	CLIP-seq
MIRT1177830	hsa-miR-4648	CLIP-seq
MIRT2051471	hsa-miR-4651	CLIP-seq
MIRT2578925	hsa-miR-4653-3p	CLIP-seq
MIRT1177833	hsa-miR-4663	CLIP-seq
MIRT2280496	hsa-miR-4669	CLIP-seq
MIRT1177836	hsa-miR-4689	CLIP-seq
MIRT2578926	hsa-miR-4699-3p	CLIP-seq
MIRT1177839	hsa-miR-4710	CLIP-seq
MIRT1177842	hsa-miR-4727-3p	CLIP-seq
MIRT1177843	hsa-miR-4731-5p	CLIP-seq
MIRT1177845	hsa-miR-4739	CLIP-seq
MIRT1177850	hsa-miR-4756-5p	CLIP-seq
MIRT1177852	hsa-miR-4784	CLIP-seq
MIRT2578927	hsa-miR-520d-5p	CLIP-seq
MIRT2578928	hsa-miR-524-5p	CLIP-seq
MIRT1177854	hsa-miR-548n	CLIP-seq
MIRT1177855	hsa-miR-555	CLIP-seq
MIRT1177856	hsa-miR-558	CLIP-seq
MIRT2280497	hsa-miR-592	CLIP-seq
MIRT2280498	hsa-miR-599	CLIP-seq
MIRT2051472	hsa-miR-608	CLIP-seq
MIRT1177857	hsa-miR-615-5p	CLIP-seq
MIRT2578929	hsa-miR-873	CLIP-seq
MIRT2051467	hsa-miR-1225-5p	CLIP-seq
MIRT1177763	hsa-miR-1252	CLIP-seq
MIRT1177765	hsa-miR-1273g	CLIP-seq
MIRT1177766	hsa-miR-1302	CLIP-seq
MIRT1177767	hsa-miR-1321	CLIP-seq
MIRT1177768	hsa-miR-140-5p	CLIP-seq
MIRT1177769	hsa-miR-145	CLIP-seq
MIRT1177771	hsa-miR-1825	CLIP-seq
MIRT1177772	hsa-miR-1915	CLIP-seq
MIRT1177773	hsa-miR-199a-5p	CLIP-seq
MIRT1177774	hsa-miR-199b-5p	CLIP-seq
MIRT1177778	hsa-miR-31	CLIP-seq
MIRT1177782	hsa-miR-3128	CLIP-seq
MIRT1177784	hsa-miR-3140-5p	CLIP-seq
MIRT1177785	hsa-miR-3148	CLIP-seq
MIRT1177786	hsa-miR-3150b-3p	CLIP-seq
MIRT1177788	hsa-miR-3154	CLIP-seq
MIRT1177789	hsa-miR-3160-3p	CLIP-seq
MIRT2578922	hsa-miR-3162-5p	CLIP-seq
MIRT1177790	hsa-miR-3179	CLIP-seq
MIRT1177792	hsa-miR-320a	CLIP-seq
MIRT1177793	hsa-miR-320b	CLIP-seq
MIRT1177794	hsa-miR-320c	CLIP-seq
MIRT1177795	hsa-miR-320d	CLIP-seq
MIRT1177796	hsa-miR-320e	CLIP-seq
MIRT1177797	hsa-miR-323b-5p	CLIP-seq
MIRT1177798	hsa-miR-3545-3p	CLIP-seq
MIRT1177799	hsa-miR-3545-5p	CLIP-seq
MIRT1177801	hsa-miR-3652	CLIP-seq
MIRT2280495	hsa-miR-3657	CLIP-seq
MIRT2578923	hsa-miR-3667-3p	CLIP-seq
MIRT1177808	hsa-miR-4270	CLIP-seq
MIRT1177811	hsa-miR-4298	CLIP-seq
MIRT2578924	hsa-miR-4424	CLIP-seq
MIRT1177816	hsa-miR-4429	CLIP-seq
MIRT1177817	hsa-miR-4430	CLIP-seq
MIRT1177818	hsa-miR-4436b-3p	CLIP-seq
MIRT1177819	hsa-miR-4441	CLIP-seq
MIRT2051468	hsa-miR-4447	CLIP-seq
MIRT1177820	hsa-miR-4460	CLIP-seq
MIRT1177821	hsa-miR-4468	CLIP-seq
MIRT2051469	hsa-miR-4472	CLIP-seq
MIRT1177822	hsa-miR-4476	CLIP-seq
MIRT1177823	hsa-miR-4487	CLIP-seq
MIRT1177826	hsa-miR-4504	CLIP-seq
MIRT2051470	hsa-miR-4505	CLIP-seq
MIRT1177828	hsa-miR-4533	CLIP-seq
MIRT1177830	hsa-miR-4648	CLIP-seq
MIRT2051471	hsa-miR-4651	CLIP-seq
MIRT2578925	hsa-miR-4653-3p	CLIP-seq
MIRT1177833	hsa-miR-4663	CLIP-seq
MIRT2280496	hsa-miR-4669	CLIP-seq
MIRT1177836	hsa-miR-4689	CLIP-seq
MIRT1177839	hsa-miR-4710	CLIP-seq
MIRT1177842	hsa-miR-4727-3p	CLIP-seq
MIRT1177843	hsa-miR-4731-5p	CLIP-seq
MIRT1177845	hsa-miR-4739	CLIP-seq
MIRT1177850	hsa-miR-4756-5p	CLIP-seq
MIRT1177852	hsa-miR-4784	CLIP-seq
MIRT1177854	hsa-miR-548n	CLIP-seq
MIRT1177855	hsa-miR-555	CLIP-seq
MIRT1177856	hsa-miR-558	CLIP-seq
MIRT2280497	hsa-miR-592	CLIP-seq
MIRT2280498	hsa-miR-599	CLIP-seq
MIRT2051472	hsa-miR-608	CLIP-seq
MIRT1177857	hsa-miR-615-5p	CLIP-seq
MIRT2578929	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	15274632
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0004175	Function	Endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	12297508, 15322109, 15890777, 16641999, 18201567, 19376115, 26094765, 26280335, 29611543, 30559186
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15274632
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	15274632
GO:0005794	Component	Golgi apparatus	IDA	15274632
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15274632
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	NAS	10993067
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	15274632
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IBA
GO:0007220	Process	Notch receptor processing	IDA	27608597
GO:0007220	Process	Notch receptor processing	IMP	12297508
GO:0007220	Process	Notch receptor processing	NAS	10206645
GO:0007220	Process	Notch receptor processing	TAS	15274632
GO:0007611	Process	Learning or memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	25043039, 26280335
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10993067
GO:0016485	Process	Protein processing	IBA
GO:0016485	Process	Protein processing	IDA	15274632, 27608597
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	IGI	12763021
GO:0016485	Process	Protein processing	IMP	12297508
GO:0021549	Process	Cerebellum development	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IGI	12763021
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	12297508
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IDA	15274632
GO:0031293	Process	Membrane protein intracellular domain proteolysis	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034205	Process	Amyloid-beta formation	IDA	27608597
GO:0034205	Process	Amyloid-beta formation	IEA
GO:0034205	Process	Amyloid-beta formation	IGI	12763021
GO:0034205	Process	Amyloid-beta formation	IMP	12297508, 25043039, 26280335
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0042098	Process	T cell proliferation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042470	Component	Melanosome	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IDA	25043039, 26280335
GO:0042982	Process	Amyloid precursor protein metabolic process	IEA
GO:0042983	Process	Amyloid precursor protein biosynthetic process	IEA
GO:0042986	Process	Positive regulation of amyloid precursor protein biosynthetic process	IEA
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	15274632, 27608597
GO:0042987	Process	Amyloid precursor protein catabolic process	IGI	12763021
GO:0042987	Process	Amyloid precursor protein catabolic process	ISS
GO:0042987	Process	Amyloid precursor protein catabolic process	TAS	15274632
GO:0050435	Process	Amyloid-beta metabolic process	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0051117	Function	ATPase binding	IPI	26094765
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0061133	Function	Endopeptidase activator activity	IGI	12763021
GO:0061133	Function	Endopeptidase activator activity	IMP	12297508
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070765	Component	Gamma-secretase complex	IDA	12297508, 25043039, 26280335
GO:0070765	Component	Gamma-secretase complex	IEA
GO:0070765	Component	Gamma-secretase complex	IGI	12763021
GO:0070765	Component	Gamma-secretase complex	IPI	26280335
GO:0070765	Component	Gamma-secretase complex	ISS
GO:0070765	Component	Gamma-secretase complex	NAS	22086926
GO:0070851	Function	Growth factor receptor binding	IPI	26094765
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0099503	Component	Secretory vesicle	IEA
GO:1900271	Process	Regulation of long-term synaptic potentiation	IEA
GO:1990926	Process	Short-term synaptic potentiation	IEA

Other IDs

• MIM: 605254
• HGNC: 17091
• e!Ensembl: ENSG00000162736

Protein

• UniProt ID: Q92542
• Protein name: Nicastrin
• Protein function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784,
• PDB: 2N7Q, 2N7R, 4UIS, 5A63, 5FN2, 5FN3, 5FN4, 5FN5, 6IDF, 6IYC, 6LQG, 6LR4, 7C9I, 7D8X, 7Y5T, 7Y5X, 7Y5Z, 8IM7, 8K8E, 8KCO, 8KCP, 8KCS, 8KCT, 8KCU, 8OQY, 8OQZ, 8X52, 8X53, 8X54
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18266	Ncstrn_small	49 → 223	Nicastrin small lobe	Domain
  PF05450	Nicastrin	274 → 499		Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676). {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:11396676}.
• Sequence:

  MATAGGGSGADPGSRGLLRLLSFCVLLAGLCRGNSVERKIYIPLNKTAPCVRLLNATHQI
  GCQSSISGDTGVIHVVEKEEDLQWVLTDGPNPPYMVLLESKHFTRDLMEKLKGRTSRIAG
  LAVSLTKPSPASGFSPSVQCPNDGFGVYSNSYGPEFAHCREIQWNSLGNGLAYEDFSFPI
  FLLEDENETKVIKQCYQDHNLSQNGSAPTFPLCAMQLFSHMHAVISTATCMRRSSIQSTF
  SINPEIVCDPLSDYNVWSMLKPINTTGTLKPDDRVVVAATRLDSRSFFWNVAPGAESAVA
  SFVTQLAAAEALQKAPDVTTLPRNVMFVFFQGETFDYIGSSRMVYDMEKGKFPVQLENVD
  SFVELGQVALRTSLELWMHTDPVSQKNESVRNQVEDLLATLEKSGAGVPAVILRRPNQSQ
  PLPPSSLQRFLRARNISGVVLADHSGAFHNKYYQSIYDTAENINVSYPEWLSPEEDLNFV
  TDTAKALADVATVLGRALYELAGGTNFSDTVQADPQTVTRLLYGFLIKANNSWFQSILRQ
  DLRSYLGDGPLQHYIAVSSPTNTTYVVQYALANLTGTVVNLTREQCQDPSKVPSENKDLY
  EYSWVQGPLHSNETDRLPRCVRSTARLARALSPAFELSQWSSTEYSTWTESRWKDIRARI
  FLIASKELELITLTVGFGILIFSLIVTYCINAKADVLFIAPREPGAVSY

• Sequence length: 709

Pathways

KEGG:

Notch signaling pathway
Alzheimer disease

Reactome:

Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
EPH-ephrin mediated repulsion of cells
Neutrophil degranulation
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3
Amyloid fiber formation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of the skin	Pathogenic	rs2101909450	RCV001814539
Acne inversa, familial, 1	Pathogenic	rs2101889658, rs771414318, rs1085307081, rs2525536152, rs1553211087, rs1553210984, rs387906896, rs1347055289	RCV001535813 RCV001535814 RCV000490379 RCV003128285 RCV000023405 RCV000023406 RCV000023407 RCV000515754

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs7528638	RCV005914137
Cervical cancer	Uncertain significance	rs763351607	RCV005931383
Cholangiocarcinoma	Benign	rs7528638	RCV005914147
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs7528638	RCV005914149
Colon adenocarcinoma	Benign	rs7528638	RCV005914136
Colorectal cancer	Benign	rs7528638	RCV005914143
Familial pancreatic carcinoma	Benign	rs7528638	RCV005914141
Gastric cancer	Uncertain significance	rs140064076	RCV005924110
Lymphoma	Benign	rs7528638	RCV005914144
Malignant lymphoma, large B-cell, diffuse	Benign	rs7528638	RCV005914142
Malignant tumor of esophagus	Likely benign	rs567141377	RCV005926609
NCSTN-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148530123, rs140668578, rs202046846, rs143039637, rs199974273, rs150605943, rs770960968, rs141165822, rs200740830, rs1362324068, rs866536656, rs375009212, rs1187374015	RCV003948436 RCV003931046 RCV003980501 RCV003931136 RCV003394303 RCV003933533 RCV003958742 RCV003941313 RCV003943482 RCV003893685 RCV003927353 RCV003964030 RCV003939659
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs7528638, rs201416838	RCV005914138 RCV005928181
Ovarian cancer	Benign	rs7528638	RCV005914139
Thymoma	Benign	rs7528638, rs200466539	RCV005914146 RCV005930404
Uterine carcinosarcoma	Benign	rs7528638	RCV005914145
Uterine corpus endometrial carcinoma	Benign	rs7528638	RCV005914148
Uveal melanoma	Benign	rs7528638	RCV005914140

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	36439123
Alzheimer Disease	Associate	11992262, 21364883, 29045054
Breast Neoplasms	Associate	24919951
Carcinoma Hepatocellular	Associate	19366792
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24346801
Hidradenitis Suppurativa	Associate	30656721, 32078194, 35368949, 37013170, 37494055
Hidradenitis suppurativa familial	Associate	30656721, 32078194, 35368949
Immunologic Deficiency Syndromes	Inhibit	15286082
Melanoma Cutaneous Malignant	Associate	25953768
Neoplasms	Associate	24223915, 25663545
Obesity	Associate	32078194
Squamous Cell Carcinoma of Head and Neck	Associate	27349552
Uterine Cervical Neoplasms	Associate	27581326