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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NCSTN Gene

protein-coding   GIFtS: 68
GCID: GC01P160313

Nicastrin

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
nicastrin1 2
APH22
ATAG18742
Anterior Pharynx-Defective 22
KIAA02533

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 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 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)

GeneCards Summary for NCSTN Gene: 
NCSTN (nicastrin) is a protein-coding gene. Diseases associated with NCSTN include hidradenitis suppurativa, and acne inversa, familial, 1, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Notch signaling pathway. GO annotations related to this gene include protein binding and endopeptidase activity.

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) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
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 plasmidNCSTN 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NCSTN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92542

  • NCSTN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NCSTN Protein Expression
    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 for NCSTN: 
    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 for NCSTN
    OriGene Protein Over-expression Lysate for NCSTN
    OriGene MassSpec for 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
    Sino Biological Cell Lysate for NCSTN 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NCSTN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005783endoplasmic reticulum ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane ISS--

    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)
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    OriGene Custom Antibody Services for NCSTN
    GenScript Superior Antibodies for NCSTN
    Novus Biologicals NCSTN Antibodies
    Abcam antibodies for NCSTN
    Cloud-Clone Corp. Antibodies for NCSTN 
    ThermoFisher Antibody for NCSTN
    LSBio Antibodies in human, mouse, rat for NCSTN 

    Assay Products for NCSTN: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NCSTN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NCSTN 
    Cloud-Clone Corp. CLIAs for NCSTN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008710 Nicastrin

    Graphical View of Domain Structure for InterPro Entry Q92542

    ProtoNet protein and cluster: Q92542

    1 Blocks protein domain: IPB008710 Nicastrin

    UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542
    Similarity: Belongs to the nicastrin family


    NCSTN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IEA--
    GO:0005515protein binding IPI12297508
    GO:0008233peptidase activity ----
         
    NCSTN for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NCSTN:
     Decreased nuclei size in G2M  Decreased viability with pacli  Increased 8N DNA content 

         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

    Animal Models:
         MGI mouse knock-outs for NCSTN: Ncstntm1.2Sud Ncstntm1Rroz Ncstntm1Pcw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NCSTN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NCSTN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NCSTN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCSTN 

    miRNA
    Products:
        
    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 plasmidNCSTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NCSTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NCSTN

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of NCSTN

    Clone
    Products:
         
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    OriGene ORF clones in 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
    Sirion Biotech Customized lentivirus for stable overexpression of NCSTN 
                         Customized lentivirus expression plasmids for stable overexpression of NCSTN 

    Cell Line
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    Search LifeMap BioReagents cell lines for NCSTN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCSTN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NCSTN About   (see all 26)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH10.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    2Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    4Signaling by NOTCH3
    Signaling by NOTCH30.83
    A third proteolytic cleavage releases NICD0.43
    Signaling by NOTCH40.83
    5NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.66

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for NCSTN
        Development Notch Signaling Pathway
    Development NOTCH1-mediated pathway for NF-KB activity modulation

    2 R&D Systems Pathways for NCSTN
        A-beta Plaque Formation & APP Metabolism
    Notch Signaling Pathways

    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
    p75(NTR)-mediated signaling
    Presenilin action in Notch and Wnt signaling

    1 Sino Biological Pathway for NCSTN 
        Notch Signaling Pathway

    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 CentralTM 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 (Q925421, 2, 3 ENSP000002947854) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APH1AQ96BI32, 3, ENSP000003581054MINT-6174950 MINT-7025631 I2D: score=5 STRING: ENSP00000358105
    PSEN1P497682, 3, ENSP000003263664MINT-6174980 I2D: score=7 STRING: ENSP00000326366
    LAMP1P112792, 3, ENSP000003332984MINT-6174932 I2D: score=1 STRING: ENSP00000333298
    TGOLN2O434932, 3, ENSP000003666034MINT-6174913 I2D: score=1 STRING: ENSP00000366603
    PSENENQ9NZ422, 3, ENSP000002222664MINT-6174972 MINT-7025631 I2D: score=5 STRING: ENSP00000222266
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002262myeloid cell homeostasis IEA--
    GO:0006508proteolysis NAS10993067
    GO:0006509membrane protein ectodomain proteolysis ISS--
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS15274632

    NCSTN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (NICA)

    2 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
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    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 plasmidNCSTN 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCSTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCSTN
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NCSTN

    Additional mRNA 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.92461381  DT.95271822  DT.75100554  DT.92461389  DT.95271830  DT.95271820  DT.97769255 
    DT.100738767  DT.121428692  DT.422143  DT.91994359  DT.95271821  DT.95352038  DT.100030227  DT.100657757 

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

    CA436672 T32024 BM556549 BU620377 BU625512 BU634039 AI623887 BF725831 
    AI086946 AW016467 AI566864 BM831733 BM555002 AI693668 BM981668 AI804891 
    BM831492 BQ016273 BX957118 AI027244 CK819188 BM801973 BM128652 AI743213 

    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)      NCSTN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGATTTTG
    NCSTN Expression
    About this image


    NCSTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad

    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
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    In Situ
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    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 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ncstn1 , 5 nicastrin1, 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
    --
    Uncharacterized protein
    66(a)
    59(a)
    1 ↔ 1
    possible ortholog
    GL343878.1(117465-128163)
    AAWZ02041784(2111-5268)
    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 nct1 , 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, 4UniProtKB, 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

    10/683 SNPs in NCSTN are shown (see all 683)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0677564
    Familial acne inversa 1 (ACNINV1)4--see VAR_0677562 P R mis40--------
    rs1998303691,2
    Cuntested1166818938(+) TGAGTC/G/TTGTAC 2 S F mis10--------
    rs770049141,2
    C--160323674(+) ATATG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs3680360061,2
    C--160328111(+) GAGCA-/CTGTCC 2 -- ut310--------
    rs1822918521,2
    --166806991(+) TGAAAA/GTGGGG 1 -- us2k10--------
    rs1855251391,2
    --166807002(+) ATCACA/GTTATG 1 -- us2k10--------
    rs1882963141,2
    --166807101(+) ACAAGA/GGACAA 1 -- us2k10--------
    rs1807642011,2
    --166807121(+) ACTTAC/TATTAT 1 -- us2k10--------
    rs789983211,2
    --166807126(+) TATTAC/TTCTAA 1 -- us2k10--------
    rs1857630021,2
    --166807173(+) AGCCTA/GCTGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NCSTN (160313062 - 160328742 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NCSTN: --

    Human Gene Mutation Database (HGMD): NCSTN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605254   
    OMIM disorders: 142690  
    UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542
  • Familial acne inversa 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 8 diseases for NCSTN:    About MalaCards
    hidradenitis suppurativa    acne inversa, familial, 1    hidradenitis    acne
    alzheimer's disease    sinusitis    breast cancer    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for NCSTN:
    Alzheimer's disease     Hidradenitis suppurativa

    NCSTN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred 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 249):
    (articles sorted by number of sources associating them with NCSTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Analysis of the nicastrin promoter rs10752637 polymor phism and its association with Alzheimer's disease. (PubMed id 19840113)1, 4, 9 Zhong L....Qing-feng L. (2009)
    4. Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms. (PubMed id 12419494)1, 4, 9 Orlacchio A....Bernardi G. (2002)
    5. Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population. (PubMed id 15249634)1, 4, 9 Helisalmi S....Van Broeckhoven C. (2004)
    6. 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)
    7. 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)
    8. 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)
    9. Association between promoter polymorphisms of the nicastrin gene and sporadic Alzheimer's disease in North Chinese Han population. (PubMed id 19394408)1, 4, 9 Ma Z....Jia J. (2009)
    10. Genetic study of Sardinian patients with Alzheimer's disease. (PubMed id 16423463)1, 4, 9 Piscopo P....Confaloni A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for NCSTN Pharmacogenomics, SNPs, Pathways

    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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