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    NCS1 neuronal calcium sensor 1 [ Homo sapiens (human) ]

    Gene ID: 23413, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NCS1provided by HGNC
    Official Full Name
    neuronal calcium sensor 1provided by HGNC
    Primary source
    HGNC:HGNC:3953
    See related
    Ensembl:ENSG00000107130 MIM:603315; AllianceGenome:HGNC:3953
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLUP; FREQ
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 60.4), esophagus (RPKM 14.4) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NCS1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (130172404..130237303)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142377132..142442184)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132934683..132999582)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20398 Neighboring gene G protein-coupled receptor 107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132878169-132878714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132881191-132882139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132904135-132904908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132905683-132906456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132913067-132913905 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132928978-132929181 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132933797-132934585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20400 Neighboring gene GPR107 adjacent cis regulating lncRNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132936047-132936957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132947945-132948786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132948787-132949629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132949630-132950471 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132951645-132951994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132959499-132960000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132960001-132960500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132971269-132971960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132972653-132973344 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132976749-132976936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132977599-132978255 Neighboring gene Sharpr-MPRA regulatory region 5428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132981410-132982372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132999231-132999790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29151 Neighboring gene Sharpr-MPRA regulatory region 4503 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:133021088-133021842 Neighboring gene uncharacterized LOC124902285 Neighboring gene microRNA 12126 Neighboring gene hemicentin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells.
      Title: NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells.
    2. [Neuronal Calcium Sensor-1: A Zinc/Redox-Dependent Protein of Nervous System Signaling Pathways].
      Title: [Neuronal Calcium Sensor-1: A Zinc/Redox-Dependent Protein of Nervous System Signaling Pathways].
    3. Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling.
      Title: Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling.
    4. Neuronal Calcium Sensor 1 is up-regulated in response to stress to promote cell survival and motility in cancer cells.
      Title: Neuronal Calcium Sensor 1 is up-regulated in response to stress to promote cell survival and motility in cancer cells.
    5. Disorder in a two-domain neuronal Ca(2+)-binding protein regulates domain stability and dynamics using ligand mimicry.
      Title: Disorder in a two-domain neuronal Ca(2+)-binding protein regulates domain stability and dynamics using ligand mimicry.
    6. Membrane Binding of Neuronal Calcium Sensor-1: Highly Specific Interaction with Phosphatidylinositol-3-Phosphate.
      Title: Membrane Binding of Neuronal Calcium Sensor-1: Highly Specific Interaction with Phosphatidylinositol-3-Phosphate.
    7. NCS-1 expression is higher in basal breast cancers and regulates calcium influx and cytotoxic responses to doxorubicin.
      Title: NCS-1 expression is higher in basal breast cancers and regulates calcium influx and cytotoxic responses to doxorubicin.
    8. NCS-1 levels were reduced in a human iPSC-model of familial Parkinson's.
      Title: Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease.
    9. NCS1 regulates endoplasmic reticulum-mitochondria cross-talk, which is impaired in Wolfram syndrome
      Title: ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome.
    10. High NCS1 expression is associated with Hepatocellular Carcinoma.
      Title: Hepatocellular Carcinoma Outcome Is Predicted by Expression of Neuronal Calcium Sensor 1.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp761L1223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables calcium sensitive guanylate cyclase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuronal calcium sensor 1
    Names
    frequenin homolog
    frequenin-like protein
    frequenin-like ubiquitous protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001128826.2 → NP_001122298.1  neuronal calcium sensor 1 isoform 2

      See identical proteins and their annotated locations for NP_001122298.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus when compared to isoform 1.
      Source sequence(s)
      AF134479, AI521726, AI564128, AI768193, AL161981, AL360004, BM011362, BQ880305, BU150740, CF453730, CK301145, DA092531
      Consensus CDS
      CCDS78448.1
      UniProtKB/Swiss-Prot
      P62166
      Related
      ENSP00000486695.1, ENST00000630865.1
      Conserved Domains (1) summary
      COG5126
      Location:4 → 161
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. NM_014286.4 → NP_055101.2  neuronal calcium sensor 1 isoform 1

      See identical proteins and their annotated locations for NP_055101.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF134479, AI521726, AI564128, AI768193, AL161981, AL360004, BC004856, BM011362, BU150740, CF453730, CK301145
      Consensus CDS
      CCDS6932.1
      UniProtKB/Swiss-Prot
      E9PAY3, P36610, P62166, Q9UK26
      Related
      ENSP00000361475.3, ENST00000372398.6
      Conserved Domains (1) summary
      COG5126
      Location:20 → 179
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      130172404..130237303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      142377132..142442184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62166.2 GenPept UniProtKB/Swiss-Prot:P62166

    Gene LinkOut

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