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... See more...

Aliases for NCS1 Gene

Aliases for NCS1 Gene

  • Neuronal Calcium Sensor 1 2 3 4 5
  • Frequenin-Like Ubiquitous Protein 3 4
  • Frequenin-Like Protein 3 4
  • Frequenin Homolog 3 4
  • FREQ 3 4
  • FLUP 3 4
  • Frequenin (Drosophila) Homolog 2
  • Frequenin Homolog (Drosophila) 2
  • NCS-1 4

External Ids for NCS1 Gene

Previous HGNC Symbols for NCS1 Gene

  • FREQ

Previous GeneCards Identifiers for NCS1 Gene

  • GC09P132934
  • GC09P102535

Summaries for NCS1 Gene

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 Wolfram Syndrome and Trachea Carcinoma. Among its related pathways are Ca, cAMP and Lipid Signaling and Neuroscience. Gene Ontology (GO) annotations related to this gene include calcium ion binding and magnesium ion binding. An important paralog of this gene is NCALD.

UniProtKB/Swiss-Prot Summary for NCS1 Gene

  • 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 Gene

Additional gene information for NCS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCS1 Gene

Genomics for NCS1 Gene

GeneHancer (GH) Regulatory Elements for NCS1 Gene

Promoters and enhancers for NCS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCS1

Genomic Locations for NCS1 Gene

Genomic Locations for NCS1 Gene
chr9:130,172,404-130,237,304
(GRCh38/hg38)
Size:
64,901 bases
Orientation:
Plus strand
chr9:132,934,857-132,999,583
(GRCh37/hg19)
Size:
64,727 bases
Orientation:
Plus strand

Genomic View for NCS1 Gene

Genes around NCS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCS1 Gene

Proteins for NCS1 Gene

  • Protein details for NCS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62166-NCS1_HUMAN
    Recommended name:
    Neuronal calcium sensor 1
    Protein Accession:
    P62166
    Secondary Accessions:
    • E9PAY3
    • P36610
    • Q9UK26

    Protein attributes for NCS1 Gene

    Size:
    190 amino acids
    Molecular mass:
    21879 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with KCND2 (PubMed:11606724). Interacts in a calcium-independent manner with PI4KB (By similarity). This binding competes with CALN2/CABP7 binding to PI4KB (By similarity). Interacts in a calcium-dependent manner with PICK1 (via AH domain) (By similarity). Interacts with ARF1, ARF3, ARF5 and ARF6 (PubMed:17555535). Interacts with IL1RAPL1 (PubMed:12783849).
    Miscellaneous:
    • Binds 3 calcium ions via the second, third and fourth EF-hand.

    Three dimensional structures from OCA and Proteopedia for NCS1 Gene

    Alternative splice isoforms for NCS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCS1 Gene

Post-translational modifications for NCS1 Gene

  • Ubiquitination at Lys25 and Lys53
  • Modification sites at PhosphoSitePlus

Other Protein References for NCS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NCS1 Gene

Domains & Families for NCS1 Gene

Gene Families for NCS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NCS1 Gene

Suggested Antigen Peptide Sequences for NCS1 Gene

GenScript: Design optimal peptide antigens:
  • Frequenin-like ubiquitous protein (NCS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62166

UniProtKB/Swiss-Prot:

NCS1_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with NCS1: view

Function for NCS1 Gene

Molecular function for NCS1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for NCS1 Gene

Gene Ontology (GO) - Molecular Function for NCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005245 voltage-gated calcium channel activity ISS --
GO:0005509 calcium ion binding TAS 11092894
GO:0005515 protein binding IPI 12783849
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with NCS1: view
genes like me logo Genes that share phenotypes with NCS1: view

Animal Models for NCS1 Gene

MGI Knock Outs for NCS1:
  • Ncs1 Ncs1<tm1b(EUCOMM)Hmgu>
  • Ncs1 Ncs1<tm1Blt>

Animal Model Products

  • Taconic Biosciences Mouse Models for NCS1

CRISPR Products

miRNA for NCS1 Gene

miRTarBase miRNAs that target NCS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCS1 Gene

Localization for NCS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCS1 Gene

Golgi apparatus. Cell junction, synapse, postsynaptic density. Cytoplasm, perinuclear region. Cytoplasm. Cell membrane; Peripheral membrane protein. Membrane; Lipid-anchor. Note=Associated with Golgi stacks. Post-synaptic densities of dendrites, and in the pre-synaptic nerve terminal at neuromuscular junctions. {ECO:0000305, ECO:0000305 PubMed:17555535}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCS1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
golgi apparatus 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12783849
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA,IEA 12783849
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with NCS1: view

Pathways & Interactions for NCS1 Gene

PathCards logo

SuperPathways for NCS1 Gene

genes like me logo Genes that share pathways with NCS1: view

Pathways by source for NCS1 Gene

2 Cell Signaling Technology pathways for NCS1 Gene

Gene Ontology (GO) - Biological Process for NCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010975 regulation of neuron projection development ISS --
GO:0045921 positive regulation of exocytosis IEA --
GO:0048015 phosphatidylinositol-mediated signaling IEA --
GO:0070588 calcium ion transmembrane transport IEA --
GO:0099509 regulation of presynaptic cytosolic calcium ion concentration IEA --
genes like me logo Genes that share ontologies with NCS1: view

No data available for SIGNOR curated interactions for NCS1 Gene

Drugs & Compounds for NCS1 Gene

(6) Drugs for NCS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0

(4) Additional Compounds for NCS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NCS1: view

Transcripts for NCS1 Gene

mRNA/cDNA for NCS1 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCS1 Gene

No ASD Table

Relevant External Links for NCS1 Gene

GeneLoc Exon Structure for
NCS1

Expression for NCS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCS1 Gene

This gene is overexpressed in Brain - Amygdala (x5.3), Brain - Hippocampus (x5.2), Brain - Cortex (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for NCS1 Gene

This gene is overexpressed in Bone (30.1), Brain (8.7), and Frontal cortex (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCS1

SOURCE GeneReport for Unigene cluster for NCS1 Gene:

Hs.642946

Evidence on tissue expression from TISSUES for NCS1 Gene

  • Nervous system(5)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with NCS1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCS1 Gene

Orthologs for NCS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NCS1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia NCS1 31
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCS1 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCS1 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCS1 31 30
  • 91.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ncs1 17 31 30
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Ncs1 30
  • 89.47 (n)
cow
(Bos Taurus)
Mammalia NCS1 31 30
  • 88.21 (n)
OneToOne
chicken
(Gallus gallus)
Aves NCS1 31 30
  • 88.6 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncs1 30
  • 83.68 (n)
MGC75953 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8594 30
zebrafish
(Danio rerio)
Actinopterygii ncs1b 31 30
  • 82.81 (n)
OneToOne
zgc63620 30
fruit fly
(Drosophila melanogaster)
Insecta Frq1 31
  • 72 (a)
OneToMany
Frq2 31 30
  • 67.93 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013126 30
  • 62.65 (n)
worm
(Caenorhabditis elegans)
Secernentea ncs-1 31 30
  • 66.67 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL163W 30
  • 63.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ1 33 31 30
  • 57.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02399g 30
  • 56.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2434 31
  • 68 (a)
OneToOne
Cin.15607 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04379 30
  • 64.21 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ncs1 30
  • 60.53 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15607 30
Species where no ortholog for NCS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NCS1 Gene

ENSEMBL:
Gene Tree for NCS1 (if available)
TreeFam:
Gene Tree for NCS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCS1: view image

Paralogs for NCS1 Gene

(18) SIMAP similar genes for NCS1 Gene using alignment to 1 proteins:

  • NCS1_HUMAN
genes like me logo Genes that share paralogs with NCS1: view

Variants for NCS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCS1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
713334 Benign: not provided 130,222,748(+) C/T INTRON_VARIANT
722066 Benign: not provided 130,223,167(+) G/T INTRON_VARIANT
750286 Likely Benign: not provided 130,217,928(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NCS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NCS1 Gene

Variant ID Type Subtype PubMed ID
dgv12908n54 CNV loss 21841781
dgv4148n106 CNV deletion 24896259
esv2761559 CNV gain 21179565
esv3621857 CNV loss 21293372
nsv1046307 CNV gain 25217958
nsv1075275 CNV deletion 25765185
nsv1075681 CNV deletion 25765185
nsv466590 CNV gain 19166990
nsv466592 CNV loss 19166990
nsv466593 CNV loss 19166990
nsv466595 CNV gain 19166990
nsv471825 CNV novel sequence insertion 20440878
nsv520802 CNV gain+loss 19592680
nsv615498 CNV gain 21841781
nsv615499 CNV loss 21841781
nsv615502 CNV loss 21841781
nsv615503 CNV loss 21841781
nsv615504 CNV gain 21841781
nsv6732 CNV deletion 18451855
nsv831733 CNV loss 17160897

Variation tolerance for NCS1 Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCS1 Gene

Human Gene Mutation Database (HGMD)
NCS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCS1 Gene

Disorders for NCS1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NCS1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome
  • wfs
trachea carcinoma
  • carcinoma of the trachea
acrofacial dysostosis 1, nager type
  • afd1
inner ear disease
  • labyrinthine disease
thrombophlebitis migrans
- elite association - COSMIC cancer census association via MalaCards
Search NCS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NCS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NCS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCS1 Gene

Publications for NCS1 Gene

  1. Immunocytochemical localization and crystal structure of human frequenin (neuronal calcium sensor 1). (PMID: 11092894) Bourne Y … Pongs O (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. (PMID: 12783849) Bahi N … Chelly J (Human molecular genetics 2003) 3 4 23 54
  3. A role for frequenin, a Ca2+-binding protein, as a regulator of Kv4 K+-currents. (PMID: 11606724) Nakamura TY … Coetzee WA (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23 54
  4. Membrane binding of Neuronal Calcium Sensor-1 (NCS1). (PMID: 26705828) Lemire S … Boisselier É (Colloids and surfaces. B, Biointerfaces 2016) 2 3 54
  5. Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder. (PMID: 20479890) Handley MT … Burgoyne RD (PloS one 2010) 3 23 54

Products for NCS1 Gene

Sources for NCS1 Gene