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Aliases for NFATC1 Gene

Aliases for NFATC1 Gene

  • Nuclear Factor Of Activated T-Cells 1 2 3 5
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent 1 2 3
  • NFAT Transcription Complex Cytosolic Component 3 4
  • NF-ATC 3 4
  • NFAT2 3 4
  • NFATc 3 4
  • Nuclear Factor Of Activated T-Cells, Cytoplasmic 1 3
  • Nuclear Factor Of Activated T-Cells C 3
  • NF-ATc1.2 3
  • NF-ATc1 4
  • NFATc1 4

External Ids for NFATC1 Gene

Previous GeneCards Identifiers for NFATC1 Gene

  • GC18M076683
  • GC18P077208
  • GC18P076890
  • GC18P075254
  • GC18P075256
  • GC18P073783
  • GC18P077155

Summaries for NFATC1 Gene

Entrez Gene Summary for NFATC1 Gene

  • 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]

GeneCards Summary for NFATC1 Gene

NFATC1 (Nuclear Factor Of Activated T-Cells 1) is a Protein Coding gene. Diseases associated with NFATC1 include Bone Epithelioid Hemangioma and Ventricular Septal Defect. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is NFATC2.

UniProtKB/Swiss-Prot for NFATC1 Gene

  • Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity).

Tocris Summary for NFATC1 Gene

  • NFAT (Nuclear Factor of Activated T-Cells) proteins are transcription factors that are integral for the development and function of the immune system. Five NFAT isoforms have been identified to date, NFATC1-C4 and NFAT5.

Gene Wiki entry for NFATC1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFATC1 Gene

Genomics for NFATC1 Gene

Regulatory Elements for NFATC1 Gene

Enhancers for NFATC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G079397 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.7 +6.7 6749 9.7 HDGF PKNOX1 ZBTB40 KAT2B GLIS2 EGR1 ELK1 RELB ETV6 CREM NFATC1 ATP9B CTDP1 ENSG00000267287 KCNG2 ENSG00000279637
GH18G079503 1.2 FANTOM5 ENCODE dbSUPER 20.8 +108.6 108564 0.9 PKNOX1 ESRRA ZNF592 ZFHX2 ZNF316 EGR1 IKZF1 HMBOX1 ID3 TRIM24 NFATC1 ENSG00000267287 ENSG00000279981 LOC102723506
GH18G079392 1.6 FANTOM5 ENCODE dbSUPER 14.6 -1.6 -1575 2.5 NFXL1 BMI1 GLIS2 EGR1 ZNF366 ZNF207 KLF7 EGR2 ZNF263 SP3 NFATC1 KCNG2 ATP9B ENSG00000279077
GH18G079396 1 ENCODE dbSUPER 21.8 +0.8 784 0.2 CTCF SUZ12 UBTF RBBP5 RAD21 HIC1 GLIS2 PATZ1 ZBTB20 EZH2 NFATC1 ENSG00000279637
GH18G079505 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.8 +111.5 111530 4.6 HDGF TCF12 ELK1 GATA2 NCOA1 ZNF592 MBD2 SMARCA4 MYNN KDM1A RBFADN NFATC1 HSBP1L1 ENSG00000267287 ATP9B ENSG00000279981 LOC102723506
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFATC1 on UCSC Golden Path with GeneCards custom track

Promoters for NFATC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105317 228 1201 TBP CTCF SUZ12 BACH1 RBBP5 RAD21 HIC1 POLR2A PATZ1 SMC3
ENSR00000286874 -1672 1001 NFXL1 BMI1 GLIS2 EGR1 ZNF366 EGR2 ZNF263 SP3 USF2 ZNF398

Genomic Location for NFATC1 Gene

Chromosome:
18
Start:
79,395,772 bp from pter
End:
79,529,325 bp from pter
Size:
133,554 bases
Orientation:
Plus strand

Genomic View for NFATC1 Gene

Genes around NFATC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFATC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFATC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFATC1 Gene

Proteins for NFATC1 Gene

  • Protein details for NFATC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95644-NFAC1_HUMAN
    Recommended name:
    Nuclear factor of activated T-cells, cytoplasmic 1
    Protein Accession:
    O95644
    Secondary Accessions:
    • B5B2M4
    • B5B2M5
    • B5B2M6
    • B5B2M7
    • B5B2M8
    • B5B2M9
    • B5B2N1
    • Q12865
    • Q15793
    • Q2M1S3

    Protein attributes for NFATC1 Gene

    Size:
    943 amino acids
    Molecular mass:
    101243 Da
    Quaternary structure:
    • Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. NFATC proteins bind to DNA as monomers.

    Three dimensional structures from OCA and Proteopedia for NFATC1 Gene

    Alternative splice isoforms for NFATC1 Gene

neXtProt entry for NFATC1 Gene

Post-translational modifications for NFATC1 Gene

  • Phosphorylated by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and promotes subsequent phosphorylation by GSK3B or casein kinase 1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFATC1 (NFAT2)
  • Abcam antibodies for NFATC1

No data available for DME Specific Peptides for NFATC1 Gene

Domains & Families for NFATC1 Gene

Gene Families for NFATC1 Gene

Graphical View of Domain Structure for InterPro Entry

O95644

UniProtKB/Swiss-Prot:

NFAC1_HUMAN :
  • Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
Domain:
  • Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
  • The N-terminal transactivation domain (TAD-A) binds to and is activated by Cbp/p300. The dephosphorylated form contains two unmasked nuclear localization signals (NLS), which allow translocation of the protein to the nucleus.
  • Isoforms C have a C-terminal part with an additional trans-activation domain, TAD-B, which acts as a transcriptional activator. Isoforms B have a shorter C-terminal part without complete TAD-B which acts as a transcriptional repressor.
genes like me logo Genes that share domains with NFATC1: view

Function for NFATC1 Gene

Molecular function for NFATC1 Gene

GENATLAS Biochemistry:
nuclear factor activated T cells,c1 (cytosolic) component,related to the NFKB/REL proteins and forming cooperative complexes with FOS and JUN on DNA,calcineurin dependent,involved in expression of genes collectively coordinating immune response
UniProtKB/Swiss-Prot Function:
Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity).
UniProtKB/Swiss-Prot Induction:
Only isoforms A are inducibly expressed in T lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin. Also induced after co-addition of 12-O-tetradecanoylphorbol-13-acetate (TPA) and ionomycin. Weakly induced with PMA, ionomycin and cyclosporin A.

Gene Ontology (GO) - Molecular Function for NFATC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0001085 RNA polymerase II transcription factor binding ISS --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding ISS --
GO:0001225 RNA polymerase II transcription coactivator binding IEA --
genes like me logo Genes that share ontologies with NFATC1: view
genes like me logo Genes that share phenotypes with NFATC1: view

Animal Models for NFATC1 Gene

MGI Knock Outs for NFATC1:

Animal Model Products

CRISPR Products

Targeted motifs for NFATC1 Gene
HOMER Transcription Factor Regulatory Elements motif NFATC1
  • Consensus sequence: ATTTTCCATT Submotif: canonical Cell Type: Jurkat

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NFATC1 Gene

Localization for NFATC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFATC1 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription (PubMed:16511445). Nuclear translocation of NFATC1 is enhanced in the presence of TNFSF11. Nuclear translocation is decreased in the presence of FBN1 which can bind and sequester TNFSF11 (By similarity). {ECO:0000250 UniProtKB:O88942, ECO:0000269 PubMed:16511445}.

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 NFATC1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NFATC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 15304486
GO:0005634 nucleus IDA 12370307
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS,ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NFATC1: view

Pathways & Interactions for NFATC1 Gene

genes like me logo Genes that share pathways with NFATC1: view

Pathways by source for NFATC1 Gene

SIGNOR curated interactions for NFATC1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFATC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 8702849
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
GO:0030178 negative regulation of Wnt signaling pathway ISS --
genes like me logo Genes that share ontologies with NFATC1: view

Drugs & Compounds for NFATC1 Gene

(7) Drugs for NFATC1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pseudoephedrine Approved Pharma Target 628
NFAT Inhibitor Pharma NFAT inhibitor, Inhibitor of calcineurin-mediated NFAT activation 0
calcium Nutra 0

(5) Additional Compounds for NFATC1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NFAT inhibitor, Cell Permeable
592517-80-1

(2) Tocris Compounds for NFATC1 Gene

Compound Action Cas Number
NFAT Inhibitor Inhibitor of calcineurin-mediated NFAT activation 249537-73-3
NFAT inhibitor, Cell Permeable Cell permeable NFAT inhibitor 592517-80-1

(1) ApexBio Compounds for NFATC1 Gene

Compound Action Cas Number
NFAT Inhibitor NFAT inhibitor 249537-73-3
genes like me logo Genes that share compounds with NFATC1: view

Drug Products

Transcripts for NFATC1 Gene

Unigene Clusters for NFATC1 Gene

Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFATC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - -
SP2: - -
SP3: - - -
SP4:
SP5:

Relevant External Links for NFATC1 Gene

GeneLoc Exon Structure for
NFATC1
ECgene alternative splicing isoforms for
NFATC1

Expression for NFATC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFATC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NFATC1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for NFATC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.5) and CD4 Tcells (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NFATC1 Gene



Protein tissue co-expression partners for NFATC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFATC1 Gene:

NFATC1

SOURCE GeneReport for Unigene cluster for NFATC1 Gene:

Hs.534074

mRNA Expression by UniProt/SwissProt for NFATC1 Gene:

O95644-NFAC1_HUMAN
Tissue specificity: Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-cells (spleen). Isoforms B are expressed in naive T-cells after first antigen exposure and isoforms A are expressed in effector T-cells after second antigen exposure. Isoforms IA are widely expressed but not detected in liver nor pancreas, neural expression is strongest in corpus callosum. Isoforms IB are expressed mostly in muscle, cerebellum, placenta and thymus, neural expression in fetal and adult brain, strongest in corpus callosum.

Evidence on tissue expression from TISSUES for NFATC1 Gene

  • Blood(4.6)
  • Nervous system(4.3)
  • Bone(3.2)
  • Bone marrow(2.7)
  • Muscle(2.6)
  • Heart(2)
genes like me logo Genes that share expression patterns with NFATC1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NFATC1 Gene

Orthologs for NFATC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFATC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFATC1 34 35
  • 97.92 (n)
rat
(Rattus norvegicus)
Mammalia Nfatc1 34
  • 82.39 (n)
cow
(Bos Taurus)
Mammalia NFATC1 34 35
  • 81.46 (n)
dog
(Canis familiaris)
Mammalia NFATC1 34 35
  • 81.1 (n)
mouse
(Mus musculus)
Mammalia Nfatc1 34 16 35
  • 80.99 (n)
oppossum
(Monodelphis domestica)
Mammalia NFATC1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFATC1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFATC1 34 35
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia NFATC1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfatc1 34
  • 67.77 (n)
zebrafish
(Danio rerio)
Actinopterygii nfatc1 34 35
  • 64.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta NFAT 35
  • 12 (a)
OneToMany
Species where no ortholog for NFATC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NFATC1 Gene

ENSEMBL:
Gene Tree for NFATC1 (if available)
TreeFam:
Gene Tree for NFATC1 (if available)

Paralogs for NFATC1 Gene

Paralogs for NFATC1 Gene

(3) SIMAP similar genes for NFATC1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NFATC1: view

Variants for NFATC1 Gene

Sequence variations from dbSNP and Humsavar for NFATC1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs779866756 A colorectal cancer sample 79,411,218(+) TGGCC(A/G)CCATC intron-variant, reference, missense
rs1000010442 -- 79,514,078(+) TCAGC(C/T)GTGAG intron-variant
rs1000088986 -- 79,513,174(+) CCCGT(C/T)GGCGT intron-variant
rs1000109074 -- 79,484,396(+) TTCTT(C/G)CTGCC intron-variant
rs1000121598 -- 79,513,024(+) AGAGA(C/T)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFATC1 Gene

Variant ID Type Subtype PubMed ID
dgv1658n106 CNV deletion 24896259
dgv1950e59 CNV duplication 20981092
dgv6113n54 CNV loss 21841781
esv1006618 CNV deletion 20482838
esv1043802 CNV deletion 17803354
esv1062567 CNV insertion 17803354
esv1593083 CNV deletion 17803354
esv1785248 CNV deletion 17803354
esv1967866 CNV deletion 18987734
esv2012703 CNV deletion 18987734
esv2047377 CNV deletion 18987734
esv2174956 CNV deletion 18987734
esv2413184 CNV deletion 18987734
esv25051 CNV loss 19812545
esv2651032 CNV deletion 19546169
esv2659344 CNV deletion 23128226
esv2660625 CNV deletion 23128226
esv2663959 CNV deletion 23128226
esv2667838 CNV deletion 23128226
esv2717497 CNV deletion 23290073
esv2717644 CNV deletion 23290073
esv2717645 CNV deletion 23290073
esv2717646 CNV deletion 23290073
esv2717647 CNV deletion 23290073
esv2717648 CNV deletion 23290073
esv2717649 CNV deletion 23290073
esv2717650 CNV deletion 23290073
esv2717652 CNV deletion 23290073
esv2717653 CNV deletion 23290073
esv2717654 CNV deletion 23290073
esv2760476 CNV gain+loss 21179565
esv28648 CNV loss 19812545
esv29064 CNV gain 19812545
esv3412775 CNV duplication 20981092
esv3555778 CNV deletion 23714750
esv3643294 CNV loss 21293372
esv3643295 CNV gain 21293372
esv3643303 CNV loss 21293372
esv3643304 CNV loss 21293372
esv3900 CNV loss 18987735
nsv1065064 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1071875 CNV deletion 25765185
nsv1071876 CNV deletion 25765185
nsv1072282 CNV deletion 25765185
nsv1072283 CNV deletion 25765185
nsv1113948 CNV deletion 24896259
nsv1141945 CNV deletion 24896259
nsv1143888 CNV deletion 24896259
nsv1144842 CNV deletion 24896259
nsv1149044 CNV deletion 26484159
nsv130687 CNV deletion 16902084
nsv131042 CNV deletion 16902084
nsv131115 CNV deletion 16902084
nsv131868 CNV deletion 16902084
nsv2380 CNV insertion 18451855
nsv428359 CNV gain 18775914
nsv458315 CNV loss 19166990
nsv509706 CNV insertion 20534489
nsv509707 CNV insertion 20534489
nsv518913 CNV loss 19592680
nsv522375 CNV loss 19592680
nsv522642 CNV loss 19592680
nsv523985 CNV loss 19592680
nsv525694 CNV loss 19592680
nsv577794 CNV gain 21841781
nsv577873 CNV gain 21841781
nsv577874 CNV loss 21841781
nsv577875 CNV loss 21841781
nsv577877 CNV loss 21841781
nsv577878 CNV loss 21841781
nsv577879 CNV gain 21841781
nsv577880 CNV loss 21841781
nsv577881 CNV gain 21841781
nsv577882 CNV loss 21841781
nsv577885 CNV loss 21841781
nsv577886 CNV loss 21841781
nsv828344 CNV gain 20364138
nsv828345 CNV loss 20364138
nsv833701 CNV loss 17160897
nsv953569 CNV deletion 24416366
nsv954088 CNV deletion 24416366

Variation tolerance for NFATC1 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.01; 84.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFATC1 Gene

Human Gene Mutation Database (HGMD)
NFATC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFATC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFATC1 Gene

Disorders for NFATC1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NFATC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bone epithelioid hemangioma
  • bone hemangioma
ventricular septal defect
  • interventricular septal defect
scapuloperoneal myopathy
bone resorption disease
  • bone resorption
bone remodeling disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NFATC1

Genetic Association Database (GAD)
NFATC1
Human Genome Epidemiology (HuGE) Navigator
NFATC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFATC1
genes like me logo Genes that share disorders with NFATC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFATC1 Gene

Publications for NFATC1 Gene

  1. Alternative splicing and expression of human and mouse NFAT genes. (PMID: 18675896) Vihma H. … Timmusk T. (Genomics 2008) 3 4 22 64
  2. Protein kinase A negatively modulates the nuclear accumulation of NF- ATc1 by priming for subsequent phosphorylation by glycogen synthase kinase-3. (PMID: 12351631) Sheridan C.M. … Gardner P. (J. Biol. Chem. 2002) 3 4 22 64
  3. Identification of amino acid residues and protein kinases involved in the regulation of NFATc subcellular localization. (PMID: 10652349) Porter C.M. … Clipstone N.A. (J. Biol. Chem. 2000) 3 4 22 64
  4. Multiple NF-ATc isoforms with individual transcriptional properties are synthesized in T lymphocytes. (PMID: 10358178) Chuvpilo S. … Serfling E. (J. Immunol. 1999) 3 4 22 64
  5. NF-AT components define a family of transcription factors targeted in T-cell activation. (PMID: 8202141) Northrop J.P. … Crabtree G.R. (Nature 1994) 2 3 4 64

Products for NFATC1 Gene

Sources for NFATC1 Gene

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