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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFATC1 Gene

protein-coding   GIFtS: 70
GCID: GC18P077155

Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent...

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent
11 2
     Nuclear Factor Of Activated T-Cells, Cytoplasmic 12
NFAT22 3     NF-ATc3
NFATc2 3     NF-ATc13
NFAT Transcription Complex Cytosolic Component2 3     NFATC3
NF-ATC2     NFATc13

External Ids:    HGNC: 77751   Entrez Gene: 47722   Ensembl: ENSG000001311967   OMIM: 6004895   UniProtKB: O956443   

Export aliases for NFATC1 gene to outside databases

Previous GC identifers: GC18M076683 GC18P077208 GC18P076890 GC18P075254 GC18P075256 GC18P073783


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, cytoplasmic, calcineurin-dependent 1) is a protein-coding gene. Diseases associated with NFATC1 include enchondroma, and cherubism, and among its related super-pathways are RANK Signaling in Osteoclasts and BCR signaling pathway. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NFATC3.

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644
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

Gene Wiki entry for NFATC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFATC1 gene promoter:
         MEF-2A   GATA-3   MEF-2   FOXO4   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFATC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFATC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFATC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q23   HGNC cytogenetic band: 18q23

NFATC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFATC1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P077155:  view genomic region     (about GC identifiers)

Start:
77,155,772 bp from pter      End:
77,289,325 bp from pter
Size:
133,554 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644 (See protein sequence)
Recommended Name: Nuclear factor of activated T-cells, cytoplasmic 1  
Size: 943 amino acids; 101243 Da
Subunit: 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
Subcellular location: 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
2 PDB 3D structures from and Proteopedia for NFATC1:
1A66 (3D)        1NFA (3D)    
Secondary accessions: Q12865 Q15793
Alternative splicing, Alternative initiation: 7 isoforms:  O95644-1   O95644-2   O95644-3   O95644-4   O95644-5   O95644-6   O95644-8   (Produced by alternative initiation at Met-37 of isoform A-alpha. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFATC1: NX_O95644

Explore proteomics data for NFATC1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95644

  • NFATC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFATC1 Protein Expression
    REFSEQ proteins (10 alternative transcripts): 
    NP_001265598.1  NP_001265599.1  NP_001265601.1  NP_001265602.1  NP_001265604.1  NP_006153.2  NP_765975.1  NP_765976.1  
    NP_765977.1  NP_765978.1  

    ENSEMBL proteins: 
     ENSP00000253506   ENSP00000466194   ENSP00000380892   ENSP00000468111   ENSP00000442435  
     ENSP00000389377   ENSP00000316553   ENSP00000467615   ENSP00000467181   ENSP00000327850  
     ENSP00000466489   ENSP00000439992  
    Reactome Protein details: O95644
    Human Recombinant Protein Products for NFATC1: 
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    Cloud-Clone Corp. Proteins for NFATC1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA15304486
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm ISS--

    NFATC1 for ontologies           About GeneDecksing



    NFATC1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NFAT: Nuclear factor of activated T-cells

    5/7 InterPro protein domains (see all 7):
     IPR014756 Ig_E-set
     IPR008967 p53-like_TF_DNA-bd
     IPR002909 IPT_TIG_rcpt
     IPR015647 NFAT1
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry O95644

    ProtoNet protein and cluster: O95644

    3 Blocks protein domains:
    IPB002909 Cell surface receptor IPT/TIG
    IPB008366 Nuclear factor of activated T cells (NFAT) signature
    IPB011539 Rel homology


    UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644
    Domain: Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors
    Domain: 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
    Domain: 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
    Similarity: Contains 1 RHD (Rel-like) domain


    NFATC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFAC1_HUMAN, O95644
    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
    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

         Genatlas biochemistry entry for NFATC1:
    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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding ISS--
    GO:0001085RNA polymerase II transcription factor binding ISS--
    GO:0001205RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10821850
         
    NFATC1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NFATC1:
     Decreased viability  Synthetic lethal with imatinib 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nfatc1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  respiratory system  skeleton 

    NFATC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NFATC1: Nfatc1tm1Glm Nfatc1tm2Glm Nfatc1tm1Mak

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NFATC1 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFATC1 

    miRNA
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    hsa-miR-3910 hsa-miR-520d-5p hsa-miR-137 hsa-miR-1263 hsa-miR-606 hsa-miR-218 hsa-miR-570 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidNFATC1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFATC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFATC1 About   (see all 42)                                                                                              See pathways by source

    SuperPathContained pathways About
    1BAFF in B-Cell Signaling
    BAFF in B-Cell Signaling0.92
    Apoptosis and survival APRIL and BAFF signaling0.39
    APRIL Pathway0.92
    RANKL/RANK Signaling Pathway0.31
    RANK Signaling in Osteoclasts0.45
    2B cell receptor signaling pathway
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.35
    3fMLP Pathway
    fMLP Pathway0.43
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    4Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway0.40
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for NFATC1 (see all 6)
        Immune response CD28 signaling
    Signal transduction JNK pathway
    Immune response NFAT in immune response
    Apoptosis and survival APRIL and BAFF signaling
    Immune response T cell receptor signaling pathway

    2 R&D Systems Pathways for NFATC1
        Wnt Signaling Pathway
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    5/29 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NFATC1 (see all 29)
        PKA Signaling
    Nur77 Signaling in T-Cell
    Intracellular Calcium Signaling
    NFAT Signaling and Lymphocyte Interactions
    PI3K Signaling in B-Lymphocyte

    1 Cell Signaling Technology (CST) Pathway for NFATC1
        Lymphocyte Signaling

    5/7 GeneGo (Thomson Reuters) Pathways for NFATC1 (see all 7)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Development VEGF signaling via VEGFR2 - generic cascades
    Signal transduction JNK pathway
    Immune response T cell receptor signaling pathway
    Immune response CD28 signaling

    5/11 BioSystems Pathways for NFATC1 (see all 11)
        Heart Development
    TCR Signaling Pathway
    B Cell Receptor Signaling Pathway
    RANKL/RANK Signaling Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes


    4        Reactome Pathways for NFATC1
        Fc epsilon receptor (FCERI) signaling
    FCERI mediated Ca+2 mobilization
    Immune System
    Innate Immune System

    1 PharmGKB Pathway for NFATC1
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    5/9         Kegg Pathways  (Kegg details for NFATC1) (see all 9):
        MAPK signaling pathway
    Wnt signaling pathway
    Osteoclast differentiation
    Natural killer cell mediated cytotoxicity
    T cell receptor signaling pathway


    NFATC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFATC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/71 Interacting proteins for NFATC1 (O956442, 3 ENSP000003278504) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3319626 I2D: score=1 
    OGTO152942, 3, ENSP000003628244MINT-6167028 MINT-6166975 I2D: score=1 STRING: ENSP00000362824
    PIM1P113093, ENSP000003626084I2D: score=3 STRING: ENSP00000362608
    EGR1P181463, ENSP000002399384I2D: score=2 STRING: ENSP00000239938
    SPI1P179473, ENSP000002271634I2D: score=2 STRING: ENSP00000227163
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IEA--
    GO:0001837epithelial to mesenchymal transition IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS8702849
    GO:0006816calcium ion transport IEA--

    NFATC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NFATC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    1 HMDB Compound for NFATC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    9 Novoseek inferred chemical compound relationships for NFATC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclosporin a 64.9 20 12427739 (3), 9819402 (2), 17392048 (2), 18353617 (1) (see all 15)
    tacrolimus 63.7 11 7887301 (1), 9515963 (1), 11897999 (1), 9349628 (1) (see all 8)
    ionomycin 46.2 6 9111316 (3), 9843854 (1), 18221508 (1)
    calcium 41.8 23 12810687 (3), 17111365 (3), 17606988 (2), 10537109 (1) (see all 15)
    sb 203580 35.2 3 17171644 (1), 16498455 (1), 17052691 (1)
    rantes 8.93 1 14743390 (1)
    glycogen 8.93 5 11063740 (3), 18675800 (1), 12195013 (1)
    vegf 1.61 14 12427739 (5), 16840174 (4), 15339657 (1)
    phosphatidylinositol 0 1 12745060 (1)

    Search CenterWatch for drugs/clinical trials and news about NFATC1 / NFAC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for NFATC1 gene (10 alternative transcripts): 
    NM_001278669.1  NM_001278670.1  NM_001278672.1  NM_001278673.1  NM_001278675.1  NM_006162.4  NM_172387.2  NM_172388.2  
    NM_172389.2  NM_172390.2  

    Unigene Cluster for NFATC1:

    Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
    Hs.534074  [show with all ESTs]
    Unigene Representative Sequence: NM_006162
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253506 ENST00000591814 ENST00000397790(uc010drc.3) ENST00000587635
    ENST00000542384 ENST00000427363 ENST00000318065(uc002lnc.1 uc010xff.1 uc002lnd.3 uc002lne.3 uc010xfg.2 uc010xfh.2)
    ENST00000590313 ENST00000592223 ENST00000329101(uc010xfi.1 uc010xfj.2 uc002lnf.3 uc002lng.3 uc010xfk.2)
    ENST00000586434 ENST00000590224 ENST00000591065 ENST00000591089 ENST00000590861
    ENST00000590172 ENST00000586695 ENST00000545796
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK292641.1 AK293760.1 AK309546.1 BC033848.1 BC104753.1 BC112243.1 BC143457.1 EU887559.1 
    EU887560.1 EU887561.1 EU887562.1 EU887563.1 EU887564.1 EU887565.1 EU887566.1 U08015.1 
    U59736.1 U80917.1 U80918.1 U80919.1 

    10 DOTS entries:

    DT.86854141  DT.95285691  DT.100747815  DT.442407  DT.100747817  DT.100747816  DT.95290559  DT.100747818 
    DT.121083263  DT.100691925 

    24/133 AceView cDNA sequences (see all 133):

    NM_172389 AI568690 NM_006162 AW403951 AI700887 NM_172390 BX328172 AA514747 
    AI659665 NM_172388 AI125841 AA361081 BM354063 BQ877833 BM718057 AW500400 
    NM_172387 CR600003 CR615430 BQ009672 BG218835 AW204551 U80918 AA477581 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NFATC1    About this scheme

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


    ECgene alternative splicing isoforms for NFATC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFATC1 expression in normal human tissues (normalized intensities)      NFATC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTTCTGC
    NFATC1 Expression
    About this image


    NFATC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 12 entries
             Endocardial Cells Endocardium
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 entries
             Prechondrocytic Mesenchymal Cells Cervical Intervertebral Disc
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Immature Endochondral Osteoblasts Stylopod Periosteum
     
     Lymph (Hematopoietic System)    fully expand to see all 5 entries
             lymph node ; non-germinal center cells   
             lymph node   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             b cells   

    See NFATC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFATC1

    SOURCE GeneReport for Unigene cluster: Hs.534074

    UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NFATC1 (see all 9): 
              HIV Host Response in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              VEGF Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFATC1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfatc11 , 5 nuclear factor of activated T cells, cytoplasmic, calcineurin more1, 5 81.33(n)1
    84.41(a)1
      18 (53.66 cM)5
    180181  NM_001164110.11  NP_001157582.11 
     806062055 
    chicken
    (Gallus gallus)
    Aves NFATC11 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more 75.46(n)
    77.37(a)
      420815  XM_418906.3  XP_418906.3 
    lizard
    (Anolis carolinensis)
    Reptilia NFATC16
    nuclear factor of activated T-cells, cytoplasmic, ...
    78(a)
    1 ↔ 1
    4(52504007-52674669)
    zebrafish
    (Danio rerio)
    Actinopterygii nfatc11 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more 62.44(n)
    61.84(a)
      568315  NM_001045159.1  NP_001038624.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NFAT6
    NFAT homolog
    10(a)
    1 → many
    X(13518778-13558601)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFATC1 gene
    NFATC32  NFATC42  NFAT52  NFATC22  
    3 SIMAP similar genes for NFATC1 using alignment to 13 protein entries:     NFAC1_HUMAN (see all proteins):
    NFAT5    NFATC2    NFATC3

    NFATC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4248 SNPs in NFATC1 are shown (see all 4248)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365294
    A colorectal cancer sample4--see VAR_0365292 A T mis40--------
    rs1808643961,2
    --73781186(+) CGTGGG/TGGCCC 3 -- int10--------
    rs1852102081,2
    --73781405(+) AGTAGC/GGGGAG 3 -- int10--------
    rs620968611,2
    C,F--73781508(+) CCCACG/ACGGGG 3 -- int17Minor allele frequency- A:0.16WA NA CSA EA 365
    rs72444451,2
    C,F--73781509(+) CCACGC/TGGGGC 3 -- int14Minor allele frequency- T:0.09NA WA EA 360
    rs1475840861,2
    --73781585(+) GGCCCA/GCGCTG 3 -- int10--------
    rs1166413881,2
    C,F--76998015(+) CGTCTC/TATAGC 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1884647491,2
    C--76998071(+) GCCCAA/GGCTCT 3 -- us2k10--------
    rs1810941681,2
    --76998253(+) AACTTC/TGTTAG 3 -- us2k10--------
    rs1897491541,2
    --77002533(+) TTAACC/TTCACA 2 -- int10--------

    HapMap Linkage Disequilibrium report for NFATC1 (77155772 - 77289325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/65 variations for NFATC1 (see all 65):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2012703CNV Deletion18987734
    esv1006618CNV Deletion20482838
    esv2717649CNV Deletion23290073
    esv1593083CNV Deletion17803354
    esv2717653CNV Deletion23290073
    esv2663959CNV Deletion23128226
    esv2717497CNV Deletion23290073
    esv2047377CNV Deletion18987734
    esv2717650CNV Deletion23290073
    esv3900CNV Deletion18987735


    Human Gene Mutation Database (HGMD): NFATC1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600489    OMIM disorders: --

    20/29 diseases for NFATC1 (see all 29):    About MalaCards
    enchondroma    cherubism    ventricular septal defect    down syndrome critical region
    microphthalmia    osteopetrosis    bullous pemphigoid    congenital heart defect
    down syndrome    wiskott-aldrich syndrome    chondrosarcoma    myopathy
    ulcerative colitis    periodontitis    psoriasis    chronic lymphocytic leukemia
    t-cell leukemia    pancreatic cancer    rheumatoid arthritis    hepatitis b

    4 diseases from the University of Copenhagen DISEASES database for NFATC1:
    Osteoporosis     Cherubism     Rheumatoid arthritis     Osteopetrosis

    NFATC1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for NFATC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 58 5 15304486 (1), 16109714 (1), 16586042 (1), 19801646 (1) (see all 5)
    bone diseases 49.5 1 19449179 (1)
    osteoporosis 37.9 1 17392048 (1)
    necrosis 11.7 1 17485464 (1)
    colon carcinoma 2.27 1 15632146 (1)
    inflammation 2.11 3 18350607 (2), 17606988 (1)
    heart diseases 0 1 9515963 (1)
    tumors 0 3 16874304 (1), 17485464 (1), 19565565 (1)

    Genetic Association Database (GAD): NFATC1
    Human Genome Epidemiology (HuGE) Navigator: NFATC1 (11 documents)

    Export disorders for NFATC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFATC1 gene, integrated from 9 sources (see all 279):
    (articles sorted by number of sources associating them with NFATC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NF-AT components define a family of transcription factors targeted in T-cell activation. (PubMed id 8202141)1, 2, 3 Northrop J.P.... Crabtree G.R. (1994)
    2. Identification of amino acid residues and protein kinases involved in the regulation of NFATc subcellular localization. (PubMed id 10652349)1, 2, 9 Porter C.M.... Clipstone N.A. (2000)
    3. Multiple NF-ATc isoforms with individual transcriptional properties are synthesized in T lymphocytes. (PubMed id 10358178)1, 2, 9 Chuvpilo S.... Serfling E. (1999)
    4. Protein kinase A negatively modulates the nuclear accumulation of NF-ATc1 by priming for subsequent phosphorylation by glycogen synthase kinase-3. (PubMed id 12351631)1, 2, 9 Sheridan C.M....Gardner P. (2002)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    7. Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease. (PubMed id 17110989)1, 4 Yehya A....Nemer G. (2006)
    8. Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT. (PubMed id 10089876)1, 2 Crabtree G.R. (1999)
    9. Alternative polyadenylation events contribute to the induction of NF- ATc in effector T cells. (PubMed id 10072078)1, 2 Chuvpilo S.... Serfling E. (1999)
    10. Solution structure of the core NFATC1/DNA complex. (PubMed id 9506523)1, 2 Zhou P.... Verdine G.L. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4772 HGNC: 7775 AceView: NFATC1 Ensembl:ENSG00000131196 euGenes: HUgn4772
    ECgene: NFATC1 Kegg: 4772 H-InvDB: NFATC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFATC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NFATC1 gene:
    Search GeneIP for patents involving NFATC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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