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

Gene ID: 23413, updated on 5-Mar-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
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Genomic context

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Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (130172404..130237303)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142377132..142442184)
105.20220307 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
  • 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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Related articles in PubMed

  1. Disorder in a two-domain neuronal Ca(2+)-binding protein regulates domain stability and dynamics using ligand mimicry. Staby L, et al. Cell Mol Life Sci, 2021 Mar. PMID 32936312, Free PMC Article
  2. Neuronal Calcium Sensor 1 is up-regulated in response to stress to promote cell survival and motility in cancer cells. Grosshans HK, et al. Mol Oncol, 2020 Jun. PMID 32239615, Free PMC Article
  3. Membrane Binding of Neuronal Calcium Sensor-1: Highly Specific Interaction with Phosphatidylinositol-3-Phosphate. Baksheeva VE, et al. Biomolecules, 2020 Jan 21. PMID 31973069, Free PMC Article
  4. NCS-1 expression is higher in basal breast cancers and regulates calcium influx and cytotoxic responses to doxorubicin. Bong AHL, et al. Mol Oncol, 2020 Jan. PMID 31647602, Free PMC Article
  5. ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome. Angebault C, et al. Sci Signal, 2018 Oct 23. PMID 30352948

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [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].
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. High NCS1 expression is associated with Hepatocellular Carcinoma.
    Title: Hepatocellular Carcinoma Outcome Is Predicted by Expression of Neuronal Calcium Sensor 1.
  10. NCS-1, a calcium-binding protein, is associated with clinicopathologic features of aggressiveness in breast cancer cells and worse outcome in two breast cancer patient cohorts
    Title: Calcium Sensor, NCS-1, Promotes Tumor Aggressiveness and Predicts Patient Survival.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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
  
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_2023_10

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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