• Gene id: 23413

Gene Summary

• Gene Symbol: NCS1   Gene   UCSC   Ensembl
• Aliases: FLUP, FREQ
• Gene name: neuronal calcium sensor 1
• Alternate names: neuronal calcium sensor 1, frequenin homolog, frequenin-like protein, frequenin-like ubiquitous protein,
• Gene location: 9q34.11 (130172403: 130237302)     Exons: 9     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 603315

Protein Summary

• Protein general information: P62166  
  • Name: Neuronal calcium sensor 1 (NCS 1) (Frequenin homolog) (Frequenin like protein) (Frequenin like ubiquitous protein)
  • Length: 190  
  • Mass: 21879
• Sequence:

  MGKSNSKLKPEVVEELTRKTYFTEKEVQQWYKGFIKDCPSGQLDAAGFQKIYKQFFPFGDPTKFATFVFNVFDEN
  KDGRIEFSEFIQALSVTSRGTLDEKLRWAFKLYDLDNDGYITRNEMLDIVDAIYQMVGNTVELPEEENTPEKRVD
  RIFAMMDKNADGKLTLQEFQEGSKADPSIVQALSLYDGLV

• Structural information:
  • Protein Domains: (24..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (60..9-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (96..13-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 1G8I 2LCP 4GUK 5O9S 6QI4
  • PDBsum: 1G8I 2LCP 4GUK 5O9S 6QI4
  • STRING: ENSP00000361475
• Other Databases: GeneCards:  NCS1  Malacards:  NCS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0099626	voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IEA	molecular function
GO:0099523	presynaptic cytosol	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0031045	dense core granule	IEA	cellular component
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0099524	postsynaptic cytosol	IEA	cellular component
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0045921	positive regulation of exocytosis	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq