Gene

NFATC1

Species
Homo sapiens
Symbol
NFATC1
Name
nuclear factor of activated T cells 1
Synonyms
  • MGC138448
  • NF-ATC
Biotype
protein coding gene
Automated Description
Enables sequence-specific double-stranded DNA binding activity. Involved in calcineurin-NFAT signaling cascade; negative regulation of vascular associated smooth muscle cell differentiation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within intracellular signal transduction and positive regulation of DNA-templated transcription. Located in chromatin and nuclear body. Implicated in congenital heart disease and ventricular septal defect. Biomarker of aortic valve stenosis.
RGD Description
The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12533
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            79.40M79.42M79.44M79.46M79.48M79.50M79.52M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            NFATC1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
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              Genetic Interactions

              NFATC1 role
              NFATC1 genetic perturbation
              Interactor gene
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