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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NCSTN Gene

protein-coding GIFtS: 68
GCID: GC01P160313

nicastrin

Explore 9 diseases affiliated with
NCSTN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nicastrin¹
APH2¹ ²
KIAA0253¹ ³
ATAG1874²
Anterior Pharynx-Defective 2²

External Ids:	HGNC: 17091¹	Entrez Gene: 23385²	Ensembl: ENSG00000162736⁷	OMIM: 605254⁵	UniProtKB: Q92542³

Export aliases for NCSTN gene to outside databases

Previous GC identifers: GC01P158105 GC01P156045 GC01P157090 GC01P157529 GC01P157126 GC01P158579 GC01P131669

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NCSTN:

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 a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid

precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in

the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's

disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length

nature has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542

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 (beta-amyloid precursor protein). It probably

represents a stabilizing cofactor required for the assembly of the gamma-secretase complex

Gene Wiki entry for NCSTN (Nicastrin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NCSTN gene promoter:
Brachyury LCR-F1 Evi-1 POU2F1 POU2F1a Pax-4a TGIF RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NCSTN promoter sequence

Search SABiosciences Chromatin IP Primers for NCSTN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NCSTN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q22-q23 Ensembl cytogenetic band: 1q23.2 HGNC cytogenetic band: 1q22-q23

NCSTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCSTN gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P160313: view genomic region (about GC identifiers)

Start:	160,313,062 bp from pter	End:	160,328,742 bp from pter
Size:	15,681 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542 (See protein sequence)

Recommended Name: Nicastrin precursor

Size: 709 amino acids; 78411 Da

Subunit: Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2),

nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although

other components may exist. Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor

protein (APP)

Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Melanosome. Note=Identified by mass

spectrometry in melanosome fractions from stage I to stage IV

Secondary accessions: Q5T207 Q5T208 Q86VV5

Alternative splicing: 2 isoforms: Q92542-1 Q92542-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NCSTN: NX_Q92542

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92542

NCSTN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_056146.1

ENSEMBL proteins:

ENSP00000294785 ENSP00000357042 ENSP00000415442 ENSP00000390409 ENSP00000389370

ENSP00000388118 ENSP00000410124 ENSP00000407849 ENSP00000442605 ENSP00000376047

ENSP00000357044

Reactome Protein details: Q92542
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: NCSTN OriGene Protein Over-expression Lysate: NCSTN OriGene Custom Protein Services for NCSTN
	GenScript Custom Purified and Recombinant Proteins Services for NCSTN
	Novus Biologicals NCSTN Proteins Novus Biologicals NCSTN Lysates
	Sino Biological Recombinant Protein for NCSTN
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NCSTN

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005765	lysosomal membrane	IEA	--
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005794	Golgi apparatus	ISS	--
GO:0005886	plasma membrane	TAS	--

NCSTN for ontologies About GeneDecksing

NCSTN Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of NCSTN
	R&D Systems Antibodies for NCSTN (Nicastrin)
	Cell Signaling Technology (CST) Antibodies for NCSTN (nicastrin)
	OriGene Antibodies (see all 4): NCSTN OriGene Custom Antibody Services for NCSTN
	GenScript Superior Antibodies for NCSTN
	Novus Biologicals NCSTN Antibodies
	Abcam antibodies for NCSTN
	Uscn Antibodies for NCSTN
	ThermoFisher Antibody for NCSTN

Assay Products for NCSTN:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NCSTN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NCSTN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NCSTN for domains About GeneDecksing

1 InterPro domain/family:

IPR008710 Nicastrin

Graphical View of Domain Structure for InterPro Entry Q92542

ProtoNet protein and cluster: Q92542

1 Blocks protein family: IPB008710 Nicastrin

UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542

Similarity: Belongs to the nicastrin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542

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 (beta-amyloid precursor protein). It probably

represents a stabilizing cofactor required for the assembly of the gamma-secretase complex

Induction: Constitutively expressed in neural cells

miRNA Products:		OriGene 3'-UTR Clone: NCSTN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NCSTN
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate NCSTN (see all 13):
		hsa-miR-194* hsa-miR-4265 hsa-miR-140-5p hsa-miR-615-5p hsa-miR-4318 hsa-miR-199a-5p hsa-miR-199b-5p hsa-miR-3121-3p

		SwitchGear 3'UTR luciferase reporter plasmid: NCSTN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NCSTN (see all 6) Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NCSTN

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NCSTN

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NCSTN (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NCSTN OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NCSTN (NM_015331)
		Sino Biological Human cDNA Clone for NCSTN
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCSTN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCSTN

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NCSTN
		Search LifeMap BioReagents cell lines for NCSTN

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCSTN

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004175	endopeptidase activity	IEA	--
GO:0005515	protein binding	IPI	16641999
GO:0008233	peptidase activity	--	--

NCSTN for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for NCSTN:

Decreased nuclei size in G2M

Decreased viability with pacli

Increased 8N DNA content

Animal Models:
Mouse knock-outs for NCSTN: Ncstn^tm1.2Sud Ncstn^tm1Rroz Ncstn^tm1Pcw
13 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Ncstn):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	hematopoietic system	immune system	mortality/aging	nervous system
normal	tumorigenesis	vision/eye

NCSTN for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

8/11 pathways (see all 11)
Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	1.00	Signaling by NOTCH1	1.00
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH	0.77
Signaling by NOTCH1 in Cancer	1.00	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	0.71

NOTCH2 Activation and Transmission of Signal to the Nucleus

	NOTCH2 Activation and Transmission of Signal to the Nucleus	1.00			Activated NOTCH1 Transmits Signal to the Nucleus	0.58
	Signaling by NOTCH2	1.00

Notch Signaling Pathway

	Notch Signaling Pathway	1.00			Delta-Notch Signaling Pathway	0.27
	Notch signaling pathway	0.82

Development_Notch Signaling Pathway

Development_Notch Signaling Pathway

1.00

Development Notch Signaling Pathway

0.97

Cell death signalling via NRAGE, NRIF and NADE

Cell death signalling via NRAGE, NRIF and NADE

1.00

p75 NTR receptor-mediated signalling

0.73

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for NCSTN

	Development Notch Signaling Pathway
	Development NOTCH1-mediated pathway for NF-KB activity modulation

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NCSTN

	Notch Signaling
	Molecular Mechanisms of Cancer
	Presenilin-Mediated Signaling
	ErbB4 Pathway

2 Cell Signaling Technology (CST) Pathways for NCSTN

	Wnt / Hedgehog / Notch
	Neuroscience

3 GeneGo (Thomson Reuters) Pathways for NCSTN

	Development NOTCH1-mediated pathway for NF-KB activity modulation
	Development Notch Signaling Pathway
	Development MAG-dependent inhibition of neurite outgrowth

5/7 BioSystems Pathways for NCSTN (see all 7)

	Notch Signaling Pathway
	Delta-Notch Signaling Pathway
	Alzheimers Disease
	Presenilin action in Notch and Wnt signaling
	p75(NTR)-mediated signaling

5/25 Reactome Pathways for NCSTN (see all 25)

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	NRIF signals cell death from the nucleus
	A third proteolytic cleavage releases NICD
	FBXW7 Mutants and NOTCH1 in Cancer
	Cell death signalling via NRAGE, NRIF and NADE

2 Kegg Pathways (Kegg details for NCSTN):

	Notch signaling pathway
	Alzheimer's disease

NCSTN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NCSTN

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/46 Interacting proteins for NCSTN (Q92542^{1, 2, 3} ENSP00000294785⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APH1A	Q96BI3²^,³, ENSP00000358105⁴	MINT-6174950 MINT-7025631 I2D: score=5 STRING: ENSP00000358105
PSEN1	P49768²^,³, ENSP00000326366⁴	MINT-6174980 I2D: score=7 STRING: ENSP00000326366
LAMP1	P11279²^,³, ENSP00000333298⁴	MINT-6174932 I2D: score=1 STRING: ENSP00000333298
TGOLN2	O43493²^,³, ENSP00000366603⁴	MINT-6174913 I2D: score=1 STRING: ENSP00000366603
PSENEN	Q9NZ42²^,³, ENSP00000222266⁴	MINT-6174972 MINT-7025631 I2D: score=5 STRING: ENSP00000222266

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002262	myeloid cell homeostasis	IEA	--
GO:0006508	proteolysis	NAS	10993067
GO:0006509	membrane protein ectodomain proteolysis	ISS	--
GO:0006915	apoptotic process	TAS	--
GO:0007219	Notch signaling pathway	TAS	--

NCSTN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NCSTN for compounds About GeneDecksing

EMD Millipore small molecules for NCSTN:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NCSTN
2 Novoseek chemical compound relationships for NCSTN gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipid	2.76	2	19885829 (1), 15322084 (1)
cholesterol	0	1	15322084 (1)

Search CenterWatch for drugs/clinical trials and news about NCSTN / NICA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NCSTN gene:

NM_015331.2

Unigene Cluster for NCSTN:

Nicastrin

Hs.517249 [show with all ESTs]

Unigene Representative Sequence: BC047621

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000294785(uc001fvx.3 uc010pjf.2 uc010pjg.2) ENST00000368063(uc001fvy.3)

ENST00000437169 ENST00000421914 ENST00000465223 ENST00000438008 ENST00000467837(uc009wtk.1)

ENST00000491332 ENST00000459963 ENST00000424645 ENST00000424754 ENST00000435149

ENST00000491390 ENST00000469159 ENST00000535857 ENST00000392212 ENST00000368065

miRNA Products:		OriGene 3'-UTR Clone: NCSTN Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NCSTN
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate NCSTN (see all 13):
		hsa-miR-194* hsa-miR-4265 hsa-miR-140-5p hsa-miR-615-5p hsa-miR-4318 hsa-miR-199a-5p hsa-miR-199b-5p hsa-miR-3121-3p

		SwitchGear 3'UTR luciferase reporter plasmid: NCSTN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NCSTN (see all 6) Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NCSTN

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NCSTN (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NCSTN OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NCSTN (NM_015331)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCSTN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCSTN

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NCSTN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NCSTN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NCSTN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NCSTN

Additional cDNA sequence:

AF240468.1 AK296153.1 AK299142.1 AK310741.1 AK314764.1 AY359120.1 BC047621.1 BC100024.1

D87442.1

24/25 DOTS entries (see all 25):

DT.100656576 DT.449880 DT.100817078 DT.92461377 DT.102839127 DT.100817077 DT.95271824 DT.97854689

DT.121428763 DT.95271822 DT.75100554 DT.92461381 DT.92461389 DT.95271820 DT.95271830 DT.97769255

DT.100738767 DT.121428692 DT.91994359 DT.95271821 DT.95352038 DT.100030227 DT.100657757 DT.422143

24/514 AceView cDNA sequences (see all 514):

BM831298 BM850527 AL710739 AI693668 F12075 BX384067 AI697272 BM724742

M78914 AI223181 AW768957 BQ225025 AA126487 AA486319 BF725831 BQ016273

BM556549 CR596089 BC047621 BQ944698 CN485093 BM831492 CD364646 AI804891

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NCSTN (see all 16) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	·	7c	^	8	^	9a	·	9b	·	9c	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15a	·	15b	^	16a	·	16b	^
SP1:									-		-								-																										-		-		-
SP2:									-		-		-						-																										-		-		-
SP3:																																									-				-		-		-
SP4:																																																	-
SP5:							-		-		-		-						-

ExUns:	17a	·	17b	·	17c	^	18a	·	18b	^	19	^	20a	·	20b	·	20c	^	21a	·	21b	·	21c	^	22a	·	22b	·	22c
SP1:	-								-								-		-
SP2:	-								-								-		-
SP3:	-								-
SP4:	-
SP5:

ECgene alternative splicing isoforms for NCSTN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NCSTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGATTTTG

About this image

NCSTN expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NCSTN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NCSTN

SOURCE GeneReport for Unigene cluster: Hs.517249

UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542

Tissue specificity: Widely expressed

SABiosciences Expression via Pathway-Focused PCR Arrays including NCSTN:

Stem Cell Signaling in human mouse rat

Alzheimer's Disease in human mouse rat

Notch Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NCSTN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NCSTN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NCSTN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NCSTN

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCSTN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NCSTN gene from 9/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ncstn^{1 , 5}	nicastrin^{1, 5}	86.82(n)¹ 88.98(a)¹		1 (79.54 cM)⁵ 59287¹ NM_021607.3¹ NP_067620.3¹ 172066013⁵
chicken (Gallus gallus)	Aves	NCSTN¹	nicastrin	69.2(n) 69.54(a)		426905 NM_001004413.2 NP_001004413.2
lizard (Anolis carolinensis)	Reptilia	NCSTN⁶	--	67(a)	1 ↔ 1	GL343878.1(118486-128163)
African clawed frog (Xenopus laevis)	Amphibia	Xl.19808²	Xenopus laevis transcribed sequence with moderate similarity more	75(n)		BQ399307.1
zebrafish (Danio rerio)	Actinopterygii	ncstn¹	nicastrin	59.97(n) 58.47(a)		494449 NM_001009556.1 NP_001009556.1
fruit fly (Drosophila melanogaster)	Insecta	nct^{1 , 3}	N receptor processing³ nicastrin¹	29(a)³ 43.87(n)¹ 33.65(a)¹		96B1³ 42964¹ NM_001170242.1¹ NP_001163713.1¹
worm (Caenorhabditis elegans)	Secernentea	aph-2¹	Protein APH-2	41.63(n) 26.27(a)		172905 NM_060311.2 NP_492712.2
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G52640¹	nicastrin	39.77(n) 28.21(a)		824430 NM_202690.2 NP_974419.1
rice (Oryza sativa)	Liliopsida	Os02g0736500¹	hypothetical protein	42.41(n) 30.25(a)		4330658 NM_001054589.1 NP_001048054.1

ENSEMBL Gene Tree for NCSTN (if available)
TreeFam Gene Tree for NCSTN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199830369^1,2	C	other	133853762(+)	`TGAGTC/G/TTGTAC`	3	S C F	mis¹		0	--	--	--	--
rs199694056^1,2	C	--	131669384(+)	`GCCTTC/TTGTCT`	2	L	syn¹		1		EU	735
rs145955020^1,2	C,F,	--	131670721(+)	`CGCCTG/ACTCAA`	2	/L	syn¹		2		NA EU	5871
rs111354368^1,2	C,	--	131671586(+)	`CTGGGC/TGCAGT`	1	--	int¹		0	--	--	--	--
rs73029440^1,2	C,F,	--	131671699(+)	`CTCTAC/TTAAAA`	1	--	int¹		5		WA CSA EA	127
rs10908775^1,2	A	--	131671862(+)	`actgtC/Ttgaaa`	1	--	int¹		0	--	--	--	--
rs12760503^1,2	H	--	131672155(+)	`GGAAAC/ATTGGG`	1	--	int¹		4		NS EA	420
rs12745909^1,2	H	--	131672156(+)	`GAAACT/CTGGGG`	1	--	int¹		4		NS EA	420
rs12760514^1,2	H	--	131672176(+)	`GGCTTC/TTTCAT`	1	--	int¹		4		NS EA	416
rs73029441^1,2	C,	--	131672188(+)	`ATCAAG/ATTGAT`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for NCSTN (160313062 - 160328742 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NCSTN: --
Human Gene Mutation Database (HGMD): NCSTN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NCSTN

DNA2.0 Custom Variant and Variant Library Synthesis for NCSTN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NCSTN for disorders           About GeneDecksing

OMIM gene information: 605254
OMIM disorders: 142690
UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542

Defects in NCSTN are the cause of familial acne inversa type 1 (ACNINV1) [MIM:142690]. A chronic relapsing

inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and

disfiguring scars. Manifestations typically appear after puberty

9 diseases for NCSTN: About MalaCards

acne inversa, familial, 1 alzheimer's disease hidradenitis suppurativa hidradenitis

acne neurodegeneration breast cancer cholesterol

neuronitis

2 diseases from the University of Copenhagen DISEASES database for NCSTN:

Alzheimer's disease Hidradenitis suppurativa

3 Novoseek disease relationships for NCSTN gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	80.7	27	11992262 (3), 16562666 (2), 15249634 (2), 15549135 (1) (see all 19)
senile plaques	70.5	4	17668005 (1), 16938437 (1), 19889971 (1), 17588625 (1)
neurodegeneration	19.5	1	16675392 (1)

Genetic Association Database (GAD): NCSTN
Human Genome Epidemiology (HuGE) Navigator: NCSTN (17 documents)

Export disorders for NCSTN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NCSTN gene, integrated from 9 sources (see all 244):
(articles sorted by number of sources associating them with NCSTN)

Utopia: connect your pdf to the dynamic
world of online information

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. (PubMed id 10993067)^{1, 2, 3} Yu G....St George-Hyslop P.H. (2000)
Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)^{1, 2, 3} Nagase T....Nomura N. (1996)
Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms. (PubMed id 12419494)^{1, 4, 9} Orlacchio A....Bernardi G. (2002)
Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population. (PubMed id 15249634)^{1, 4, 9} Helisalmi S....Van Broeckhoven C. (2004)
Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene. (PubMed id 15157994)^{1, 4, 9} Orlacchio A....Bernardi G. (2004)
Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439)^{1, 2, 9} Kimberly W.T....Selkoe D.J. (2003)
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. (PubMed id 11992262)^{1, 4, 9} Dermaut B....Van Broeckhoven C. (2002)
Nicastrin gene polymorphisms, cognitive ability level and cognitive ageing. (PubMed id 15567563)^{1, 4, 9} Deary I.J....Lovestone S. (2005)
No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease. (PubMed id 14664923)^{1, 4, 9} Cousin E....Deleuze J.F. (2003)
Nicastrin, a key regulator of presenilin function, is expressed constitutively in human neural cell lines. (PubMed id 11396676)^{1, 2, 9} Satoh J. and Kuroda Y. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23385	HGNC: 17091	AceView: NCSTN	Ensembl:ENSG00000162736	euGenes: HUgn23385
ECgene: NCSTN	Kegg: 23385	H-InvDB: NCSTN

(According to HUGE)
About This Section

HUGE: KIAA0253

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NCSTN	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NCSTN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NCSTN gene:
Search GeneIP for patents involving NCSTN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

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