Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23385
Gene name Gene Name - the full gene name approved by the HGNC.	Nicastrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NCSTN
Synonyms (NCBI Gene) Gene synonyms aliases	ATAG1874
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(7)

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

Show/Hide all(321)

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

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
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:0005739	Component	Mitochondrion	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15274632
GO:0005794	Component	Golgi apparatus	IDA	15274632
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	15274632
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	Dopamine receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IBA	21873635
GO:0007220	Process	Notch receptor processing	IDA	27608597
GO:0007220	Process	Notch receptor processing	IMP	12297508
GO:0007220	Process	Notch receptor processing	TAS	15274632
GO:0007611	Process	Learning or memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010950	Process	Positive regulation of endopeptidase activity	IGI	12763021
GO:0010950	Process	Positive regulation of endopeptidase activity	IMP	12297508
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IDA	25043039, 26280335
GO:0016021	Component	Integral component of membrane	NAS	10993067
GO:0016485	Process	Protein processing	IBA	21873635
GO:0016485	Process	Protein processing	IDA	15274632, 27608597
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: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	TAS
GO:0034205	Process	Amyloid-beta formation	IDA	27608597
GO:0034205	Process	Amyloid-beta formation	IGI	12763021
GO:0034205	Process	Amyloid-beta formation	IMP	12297508, 25043039, 26280335
GO:0035333	Process	Notch receptor processing, ligand-dependent	TAS
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:0042982	Process	Amyloid precursor protein metabolic process	IDA	25043039, 26280335
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	27608597
GO:0042987	Process	Amyloid precursor protein catabolic process	IGI	12763021
GO:0042987	Process	Amyloid precursor protein catabolic process	TAS	15274632
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043085	Process	Positive regulation of catalytic activity	IDA	15274632
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0051117	Function	ATPase binding	IPI	26094765
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070765	Component	Gamma-secretase complex	IDA	12297508, 25043039, 26280335
GO:0070765	Component	Gamma-secretase complex	IGI	12763021
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:0099056	Component	Integral component of presynaptic membrane	IEA
GO:1900271	Process	Regulation of long-term synaptic potentiation	IEA
GO:1990926	Process	Short-term synaptic potentiation	IEA

MIM	HGNC	e!Ensembl
605254	17091	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

Interactions

View interactions

	KEGG		Reactome
	Notch signaling pathway Alzheimer disease		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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Acne inversa	ACNE INVERSA, FAMILIAL, 1	rs1595035030, rs1553211087, rs1553210984, rs387906896, rs1555738837, rs1555738943, rs1085307081, rs1347055289, rs1555738763, rs1555738906, rs1555738903, rs1555738836	20929727, 21495993, 22358060, 21412258, 22622421, 21430701
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	17192785

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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

NCSTN (nicastrin)