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NCSTN Gene

protein-coding   GIFtS: 68
GCID: GC01P160313

Nicastrin

  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)
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Aliases
nicastrin1 2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Mutations in this gene are associated
with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced
transcript variants of this gene have been described, but the full-length nature of some of these variants has
not been determined. (provided by RefSeq, Feb 2014)

GeneCards Summary for NCSTN Gene:
NCSTN (nicastrin) is a protein-coding gene. Diseases associated with NCSTN include acne inversa, familial, 1, and hidradenitis. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for NCSTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys351, Lys403
  • Glycosylation2 at Asn45, Asn55, Asn187, Asn200, Asn204, Asn264, Asn387, Asn417, Asn435, Asn464,
                                 Asn506, Asn530, Asn562, Asn573, Asn580, Asn612
  • Modification sites at PhosphoSitePlus

  • See NCSTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001277113.1  NP_001277115.1  NP_056146.1  

    ENSEMBL proteins: 
     ENSP00000294785   ENSP00000357042   ENSP00000415442   ENSP00000390409   ENSP00000389370  
     ENSP00000388118   ENSP00000410124   ENSP00000407849   ENSP00000442605   ENSP00000376047  
     ENSP00000357044  
    Reactome Protein details: Q92542

    NCSTN 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 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

    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 for NCSTN
    OriGene Custom Antibody Services for NCSTN
    Novus Biologicals NCSTN Antibodies
    Search for Antibodies for NCSTN at Abcam
    Cloud-Clone Corp. Antibodies for NCSTN
    ThermoFisher Antibody for NCSTN
    LSBio Antibodies in human, mouse, rat for NCSTN

    NCSTN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NCSTN
    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for NCSTN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target NCSTN:
    hsa-mir-339-5p (MIRT042811), hsa-mir-769-5p (MIRT039146), hsa-mir-21-5p (MIRT030869), hsa-mir-10a-5p (MIRT047572), hsa-mir-93-3p (MIRT038892)

    Block miRNA regulation of human, mouse, rat NCSTN using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for NCSTN
    Predesigned siRNA for gene silencing in human, mouse, rat NCSTN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NCSTN

    Clone
    Products:
         
    OriGene clones in human, mouse for NCSTN (see all 6)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NCSTN
    Browse ESI BIO Cell Lines and PureStem Progenitors for NCSTN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCSTN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NICA_HUMAN, Q92542: Membrane; Single-pass type I membrane protein (Potential). Melanosome. Note=Identified by
    mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    golgi apparatus4
    plasma membrane4
    lysosome2
    vacuole2
    cytoskeleton1
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    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 component of plasma membrane ISS--

    NCSTN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NCSTN About   (see all 24)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Notch Signaling0.30
    Notch Signaling Pathway0.84
    Signaling by NOTCH30.00
    Delta-Notch Signaling Pathway0.33
    Signaling by NOTCH40.00
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    4p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    Regulated proteolysis of p75NTR0.00
    Cell death signalling via NRAGE, NRIF and NADE0.74
    NRIF signals cell death from the nucleus0.00
    5Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected BioSystems Pathways for NCSTN (see all 7)
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Alzheimers Disease
    Syndecan-3-mediated signaling events
    p75(NTR)-mediated signaling

    1 Sino Biological Pathway for NCSTN
        Notch Signaling Pathway

    Selected Reactome Pathways for NCSTN (see all 10)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NRIF signals cell death from the nucleus
    Regulated proteolysis of p75NTR
    NOTCH2 Activation and Transmission of Signal to the Nucleus
    Signaling by NOTCH4


    2 Kegg Pathways  (Kegg details for NCSTN):
        Notch signaling pathway
    Alzheimer's disease


    NCSTN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for NCSTN

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

    Selected Interacting proteins for NCSTN (Q925421, 2, 3 ENSP000002947854) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APH1AQ96BI31, 2, 3, ENSP000003581054EBI-998440,EBI-2606935 MINT-6174950 MINT-7025631 I2D: score=5 STRING: ENSP00000358105
    PSEN1P497681, 2, 3, ENSP000003263664EBI-998440,EBI-297277 MINT-6174980 I2D: score=7 STRING: ENSP00000326366
    LAMP1P112792, 3, ENSP000003332984MINT-6174932 I2D: score=1 STRING: ENSP00000333298
    TGOLN2O434932, 3, ENSP000003666034MINT-6174913 I2D: score=1 STRING: ENSP00000366603
    PSENENQ9NZ421, 2, 3, ENSP000002222664EBI-998440,EBI-998468 MINT-6174972 MINT-7025631 I2D: score=5 STRING: ENSP00000222266
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    NCSTN for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NCSTN gene (3 alternative transcripts): 
    NM_001290184.1  NM_001290186.1  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:
         
    Block miRNA regulation of human, mouse, rat NCSTN using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for NCSTN
    Predesigned siRNA for gene silencing in human, mouse, rat NCSTN
    Clone
    Products:
         
    OriGene clones in human, mouse for NCSTN (see all 6)
    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)
    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 qSTAR qPCR primer pairs in human, mouse for NCSTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NCSTN
      QuantiTect SYBR Green Assays in human, mouse, rat NCSTN
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 514):

    CF785885 BX096408 BU542496 BM831733 BC047621 BM850527 AI086946 BX957118 
    AL710919 BG818744 CK819188 AA126487 CD364646 AY359120 AI245827 AI804891 
    BM556549 AA586337 BM801602 AI623140 BM717561 BE408912 BU161802 AW768957 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NCSTN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
    NCSTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCSTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517249

    UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler 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 qSTAR qPCR primer pairs in human, mouse for NCSTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NCSTN
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NCSTN gene from Selected species (see all 18)    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 68.84(n)
    69.17(a)
      426905  NM_001004413.2  NP_001004413.2 
    lizard
    (Anolis carolinensis)
    Reptilia NCSTN6
    nicastrin
    60(a)
    1 ↔ 1
    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
    44.08(n)1
    33.97(a)1
      96B13
    429641  NM_001276003.11  NP_001262932.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aph-21 aph-2 41.82(n)
    26.85(a)
      172905  NM_060311.3  NP_492712.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G526401 AT3G52640 40.39(n)
    27.9(a)
      824430  NM_202690.2  NP_974419.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07365001 Os02g0736500 42.72(n)
    31.12(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

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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NCSTN (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
    Acne inversa, familial, 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 605254   
    OMIM disorders: 142690  
    UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542
  • Acne inversa, familial, 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

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

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

    NCSTN for disorders           About GeneDecksing

    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)
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    PubMed articles for NCSTN gene, integrated from 10 sources (see all 252):
    (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. (Nature 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. (DNA Res. 1996)
    3. Analysis of the nicastrin promoter rs10752637 polymorphism and its association with Alzheimer's disease. (PubMed id 19840113)1, 4, 9 Zhong L....Qing-feng L. (Eur. J. Neurosci. 2009)
    4. Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms. (PubMed id 12419494)1, 4, 9 Orlacchio A....Bernardi G. (Neurosci. Lett. 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. (Neurology 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. (Neurosci. Lett. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Am. J. Hum. Genet. 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. (Neurosci. Lett. 2009)
    10. Genetic study of Sardinian patients with Alzheimer's disease. (PubMed id 16423463)1, 4, 9 Piscopo P....Confaloni A. (Neurosci. Lett. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23385 HGNC: 17091 AceView: NCSTN Ensembl:ENSG00000162736 euGenes: HUgn23385
    ECgene: NCSTN Kegg: 23385 H-InvDB: NCSTN

    (According to HUGE)
    About This Section

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    HUGE: KIAA0253

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

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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