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NCS1 Gene

protein-coding   GIFtS: 62
GCID: GC09P132934

Neuronal Calcium Sensor 1

(Previous names: frequenin (Drosophila) homolog, frequenin homolog (Drosophila))
(Previous symbol: FREQ)
  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
Neuronal Calcium Sensor 11 2     FLUP2 3
FREQ1 2 3 5     Frequenin (Drosophila) Homolog1
Frequenin Homolog2 3     Frequenin Homolog (Drosophila)1
Frequenin-Like Protein2 3     NCS-13
Frequenin-Like Ubiquitous Protein2 3     

External Ids:    HGNC: 39531   Entrez Gene: 234132   Ensembl: ENSG000001071307   OMIM: 6033155   UniProtKB: P621663   

Export aliases for NCS1 gene to outside databases

Previous GC identifer: GC09P102535


(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 NCS1 Gene:
This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed
predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation
in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory
granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NCS1 Gene:
NCS1 (neuronal calcium sensor 1) is a protein-coding gene. Diseases associated with NCS1 include tracheitis, and denture stomatitis. GO annotations related to this gene include voltage-gated calcium channel activity and calcium ion binding. An important paralog of this gene is HPCA.

UniProtKB/Swiss-Prot: NCS1_HUMAN, P62166
Function: Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent
manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity).
Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its
interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the
activity of N-type voltage-gated calcium channel (By similarity)

Gene Wiki entry for NCS1 (Neuronal calcium sensor-1) 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_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NCS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNCS1 promoter sequence
   Search Chromatin IP Primers for NCS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCS1


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

NCS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCS1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P132934:  view genomic region     (about GC identifiers)

Start:
132,934,857 bp from pter      End:
132,999,583 bp from pter
Size:
64,727 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: NCS1_HUMAN, P62166 (See protein sequence)
Recommended Name: Neuronal calcium sensor 1  
Size: 190 amino acids; 21879 Da
Subunit: Interacts with KCND2. Interacts in a calcium-independent manner with PI4KB. This binding competes with
CALN2/CABP7 binding to PI4KB (By similarity). Interacts with ARF1, ARF3, ARF5 and ARF6. Interacts in a
calcium-dependent manner with PICK1 (via AH domain) (By similarity). Interacts with IL1RAPL1
Miscellaneous: Binds 3 calcium ions via the second, third and fourth EF-hand
3 PDB 3D structures from and Proteopedia for NCS1:
1G8I (3D)        2LCP (3D)        4GUK (3D)    
Secondary accessions: E9PAY3 P36610 Q9UK26
Alternative splicing: 2 isoforms:  P62166-1   P62166-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NCS1: NX_P62166

Explore proteomics data for NCS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys25, Lys53
  • Modification sites at PhosphoSitePlus

  • See NCS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001122298.1  NP_055101.2  

    ENSEMBL proteins: 
     ENSP00000361475   ENSP00000404103  

    NCS1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR001125 Recoverin_like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P62166

    ProtoNet protein and cluster: P62166

    UniProtKB/Swiss-Prot: NCS1_HUMAN, P62166
    Similarity: Belongs to the recoverin family
    Similarity: Contains 4 EF-hand domains


    NCS1 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: NCS1_HUMAN, P62166
    Function: Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent
    manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity).
    Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its
    interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the
    activity of N-type voltage-gated calcium channel (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0005245voltage-gated calcium channel activity ISS--
    GO:0005509calcium ion binding TAS11092894
    GO:0005515protein binding IPI12783849
    GO:0019901protein kinase binding IEA--
         
    NCS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ncs1):
     no phenotypic analysis 

    NCS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ncs1tm1Blt for NCS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCS1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NCS1:
    hsa-mir-132-3p (MIRT021815), hsa-mir-484 (MIRT042108), hsa-mir-744-5p (MIRT037529), hsa-mir-148b-3p (MIRT019373), hsa-mir-1 (MIRT023761), hsa-mir-330-3p (MIRT043837), hsa-mir-331-3p (MIRT043430)

    Block miRNA regulation of human, mouse, rat NCS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NCS1 (see all 65):
    hsa-miR-3678-3p hsa-miR-140-5p hsa-miR-4272 hsa-miR-15a hsa-miR-218-1* hsa-miR-128 hsa-miR-938 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNCS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat NCS1

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    Sino Biological Human cDNA Clone for NCS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCS1

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    (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
    NCS1_HUMAN, P62166: Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell junction, synapse,
    postsynaptic cell membrane, postsynaptic density (By similarity). Cytoplasm, perinuclear region. Cell membrane;
    Peripheral membrane protein. Note=Associated with Golgi stacks. Post-synaptic densities of dendrites, and in the
    pre-synaptic nerve terminal at neuromuscular junctions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    golgi apparatus5
    plasma membrane5
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12783849
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IDA--
    GO:0014069postsynaptic density IEA--
    GO:0030054cell junction IEA--

    NCS1 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 NCS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Synaptic transmission ion currents
    Synaptic transmission ion currents
    2Neuroscience
    Neuroscience
    3Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for NCS1
        Ca, cAMP and Lipid Signaling
    Neuroscience




    NCS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NCS1
    Interactions:

        Search GeneGlobe Interaction Network for NCS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for NCS1 (P621662, 3 ENSP000003614754) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTX2Q86UW92, 3, ENSP000003228854MINT-66973 I2D: score=5 STRING: ENSP00000322885
    PI4KBQ9UBF83, ENSP000002716574I2D: score=7 STRING: ENSP00000271657
    DRD5P219183, ENSP000003061294I2D: score=2 STRING: ENSP00000306129
    KCND2Q9NZV83, ENSP000003334964I2D: score=2 STRING: ENSP00000333496
    CDC40O605083, ENSP000003043704I2D: score=1 STRING: ENSP00000304370
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010975regulation of neuron projection development ISS--
    GO:0045921positive regulation of exocytosis IEA--
    GO:0048015phosphatidylinositol-mediated signaling IEA--
    GO:0070588calcium ion transmembrane transport ISS--

    NCS1 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 NCS1

    1 HMDB Compound for NCS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    7 Novoseek inferred chemical compound relationships for NCS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 54 53 12034721 (4), 18634883 (3), 15699030 (3), 11910115 (3) (see all 22)
    phosphatidylinositol 49.7 14 16014415 (2), 14512421 (2), 12034721 (1), 15659215 (1) (see all 8)
    phosphoinositide 48.4 6 12034721 (1), 17114292 (1), 15659215 (1), 16691292 (1) (see all 5)
    inositol 1,4,5 trisphosphate 43.8 3 17114292 (2), 19732951 (1)
    dopamine 14.6 4 12351722 (1), 15364041 (1), 17763944 (1)
    lipid 0 2 15659215 (1), 11526106 (1)
    potassium 0 1 16733800 (1)



    NCS1 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 NCS1 gene (2 alternative transcripts): 
    NM_001128826.1  NM_014286.3  

    Unigene Cluster for NCS1:

    Neuronal calcium sensor 1
    Hs.642946  [show with all ESTs]
    Unigene Representative Sequence: NM_014286
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372398(uc004bzi.2) ENST00000493042 ENST00000458469(uc010myz.1)

    miRNA
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    hsa-miR-3678-3p hsa-miR-140-5p hsa-miR-4272 hsa-miR-15a hsa-miR-218-1* hsa-miR-128 hsa-miR-938 hsa-miR-30d
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    Additional mRNA sequence: 

    AF134479.1 AF186409.1 AK023889.1 AK024709.1 AL161981.1 BC004856.2 BC008698.1 X84048.1 

    9 DOTS entries:

    DT.446408  DT.101983685  DT.95077340  DT.100785967  DT.100785971  DT.91823615  DT.95077338  DT.91723247 
    DT.91906344 

    Selected AceView cDNA sequences (see all 305):

    BF116040 F04592 BF115916 T09301 F13357 BM559024 BM128579 BM797243 
    CR597605 AA339644 F04130 BF940109 BF058841 BU740673 BE552372 BI914124 
    AW006062 BQ881768 AI937792 BU150740 AI391466 CB156295 BM719015 AI492390 

    GeneLoc Exon Structure


    (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)
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    NCS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCATAGTCC
    NCS1 Expression
    About this image


    NCS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Ovary (Reproductive System)
             Oviduct
    NCS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.642946
        Custom PCR Arrays for NCS1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NCS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCS1

    (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 animals and fungi.

    Orthologs for NCS1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ncs11 , 5 neuronal calcium sensor 11, 5 90.35(n)1
    100(a)1
      2 (21.81 cM)5
    142991  NM_019681.31  NP_062655.11 
     312458235 
    chicken
    (Gallus gallus)
    Aves NCS11 neuronal calcium sensor 1 88.6(n)
    100(a)
      396336  NM_205377.1  NP_990708.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.85942 Xenopus laevis frequenin mRNA, complete cds 82.7(n)    U27274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636202 hypothetical protein MGC63620 80.48(n)   393437  AY190280.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Frq21 Frequenin 2 67.93(n)
    71.74(a)
      32799  NM_001272746.1  NP_001259675.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ncs-11 ncs-1 66.67(n)
    75.66(a)
      180448  NM_075785.1  NP_508186.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FRQ1(YDR373W)4
    FRQ11
    N-myristoylated calcium-binding protein that may have more4
    FRQ11
    57.54(n)1
    60(a)1
      4(1222759-1223331)4
    8519791, 4  NP_010661.31  NP_010661.14 


    ENSEMBL Gene Tree for NCS1 (if available)
    TreeFam Gene Tree for NCS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCS1 gene
    HPCA2  KCNIP32  KCNIP42  KCNIP12  GUCA1A2  RCVRN2  HPCAL12  GUCA1B2  
    NCALD2  KCNIP22  HPCAL42  GUCA1C2  VSNL12  
    18 SIMAP similar genes for NCS1 using alignment to 1 protein entry:     NCS1_HUMAN:
    HPCAL1    DKFZp781K1922    HPCA    NCALD    VSNL1    HPCAL4
    KCNIP4    KCNIP1    KCNIP3    RCVRN    KCNIP2    GUCA1B
    DKFZp686E1183    GUCA1A    HZGJ    PPP3R1    PPP3R2    GUCA1C

    NCS1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for NCS1 (see all 1659)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379443201,2
    C--102533063(+) TGTGT-/GAGAGA
            
    GAGAG
    1 -- us2k10--------
    rs109886281,2
    C--102533064(+) GTGTGT/AGAGAG 1 -- us2k1 trp32Minor allele frequency- A:0.25NA 4
    rs1146951961,2
    C,F--132932892(+) TTGTAG/CAGATG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs735435551,2
    C,F--132933101(+) ATGCTC/GAGCAC 1 -- us2k13Minor allele frequency- G:0.06WA CSA 122
    rs788299501,2
    C,F--132933165(+) GAGTTG/AGTCCT 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs625839361,2
    C--132933222(+) CTGGGC/TCCACC 1 -- us2k14Minor allele frequency- T:0.07NA WA EA 360
    rs1503371181,2
    --132933280(+) AAGACC/TTCCTG 1 -- us2k10--------
    rs1926689481,2
    --132933385(+) CACTCA/GGCCCT 1 -- us2k10--------
    rs70414841,2
    C,F,H--132933436(+) GAACAC/TTGTGG 1 -- us2k19Minor allele frequency- T:0.09NS NA CSA WA 1012
    rs1842544801,2
    --132933532(+) CCCCAA/GGGCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NCS1 (132934857 - 132999583 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NCS1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831733CNV Loss17160897
    dgv8301n71CNV Loss21882294
    dgv8300n71CNV Loss21882294
    nsv466592CNV Loss19166990
    nsv893935CNV Loss21882294
    nsv6732CNV Loss18451855
    nsv893934CNV Loss21882294
    nsv466593CNV Loss19166990
    nsv893932CNV Loss21882294
    nsv893940CNV Gain21882294

    Human Gene Mutation Database (HGMD): NCS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NCS1
    DNA2.0 Custom Variant and Variant Library Synthesis for NCS1

    (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.)
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    OMIM gene information: 603315    OMIM disorders: --

    12 diseases for NCS1:    
    About MalaCards
    tracheitis    denture stomatitis    labyrinthitis    stomatitis
    neuronitis    anorexia nervosa    schizophrenia    bipolar disorder
    mental retardation    cerebritis    alzheimer's disease    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for NCS1:
    Labyrinthine dysfunction

    NCS1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for NCS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 28.2 9 15364041 (6), 19091302 (1), 19656467 (1)
    mental retardation 21.1 1 19656467 (1)
    shock 0 1 8101711 (1)

    Genetic Association Database (GAD): NCS1
    Human Genome Epidemiology (HuGE) Navigator: NCS1 (3 documents)

    Export disorders for NCS1 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 NCS1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with NCS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Immunocytochemical localization and crystal structure of human frequenin (neuronal calcium sensor 1). (PubMed id 11092894)1, 2, 3, 9 Bourne Y.... Pongs O. (J. Biol. Chem. 2001)
    2. A role for frequenin, a Ca2+-binding protein, as a regulator of Kv4 K+-currents. (PubMed id 11606724)1, 2, 9 Nakamura T.Y....Coetzee W.A. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    3. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. (PubMed id 12783849)1, 2, 9 Bahi N.... Chelly J. (Hum. Mol. Genet. 2003)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Expression of neuronal calcium sensor-1 (NCS-1) is decreased in leukocytes of schizophrenia and bipolar disorder patients. (PubMed id 19091302)1, 9 Torres K.C....Romano-Silva M.A. (amp 2009)
    7. Conservation of regulatory function in calcium-binding proteins: human frequenin (neuronal calcium sensor-1) associates productively with yeast phosphatidylinositol 4-kinase isoform, Pik1. (PubMed id 14512421)1, 9 Strahl T....Pongs O. (J. Biol. Chem. 2003)
    8. Interaction with neuronal calcium sensor NCS-1 mediates desensitization of the D2 dopamine receptor. (PubMed id 12351722)1, 9 Kabbani N....Levenson R. (J. Neurosci. 2002)
    9. Interaction of neuronal calcium sensor-1 (NCS-1) with phosphatidylinositol 4-kinase beta stimulates lipid kinase activity and affects membrane trafficking in COS-7 cells. (PubMed id 11526106)1, 9 Zhao X....Balla T. (J. Biol. Chem. 2001)
    10. Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder. (PubMed id 20479890)1, 9 Handley M.T....Burgoyne R.D. (PLoS ONE 2010)

    (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: 23413 HGNC: 3953 AceView: FREQ Ensembl:ENSG00000107130 euGenes: HUgn23413
    ECgene: NCS1 H-InvDB: NCS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NCS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NCS1 gene:
    Search GeneIP for patents involving NCS1

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



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