Format

Send to:

Choose Destination
    • Showing Current items.

    NFATC1 nuclear factor of activated T cells 1 [ Homo sapiens (human) ]

    Gene ID: 4772, updated on 24-Nov-2020

    Summary

    Official Symbol
    NFATC1provided by HGNC
    Official Full Name
    nuclear factor of activated T cells 1provided by HGNC
    Primary source
    HGNC:HGNC:7775
    See related
    Ensembl:ENSG00000131196 MIM:600489
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFAT2; NFATc; NF-ATC; NF-ATc1.2
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 7.4), spleen (RPKM 6.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See NFATC1 in Genome Data Viewer
    Location:
    18q23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (79395930..79529323)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77155772..77289323)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 9B (putative) Neighboring gene uncharacterized LOC105372226 Neighboring gene histidine-rich protein PFHRP-II-like Neighboring gene uncharacterized LOC107985163 Neighboring gene uncharacterized LOC101927897 Neighboring gene uncharacterized LOC107985162 Neighboring gene uncharacterized LOC102723506 Neighboring gene uncharacterized LOC284240 Neighboring gene uncharacterized LOC105372228

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 and anti-CD4 antibodies induce a specific, significant decrease in the binding activity of NF-AT, NF-kappa B and AP-1, which leads to an inhibition of IL-2 production and cell proliferation PubMed
    env Using either anti-CD4 monoclonal antibodies or HIV-1 gp120 binding to CD4 reveals a common epitope-specific activation of both the HIV-1 LTR and of the transcription factors NF-kappa B and NF-AT PubMed
    Nef nef HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef PubMed
    nef HIV-1 Nef-induced priming of TCR signaling pathways increases the number of cells expressing the transcription factors NF-kappaB and NFAT after TCR stimulation PubMed
    nef Nef-mediated super-induction of IL-2 reflects the activation of both NFAT and NFkappaB in response to CD3 or CD28 stimulation PubMed
    nef HIV-1 Nef expression significantly downregulates the level of plasma membrane GM1 in unstimulated T cells, which inhibits the activation of nuclear factor of activated T-cells (NF-AT) PubMed
    Tat tat The transcription factors NF-KappaB and NF-AT contribute to the Tat-induced activation of the HERV-K (HML-2) gag RNA transcripts in Jurkat T cells and in primary lymphocytes PubMed
    tat HIV-1 Tat expression in Jurkat T cells enhances cooperative NFAT/AP-1- but not AP-1-dependent transcription independent of its ability to transactivate the HIV-1 LTR PubMed
    tat Transcription factors NFAT and AP-1 (c-Jun/c-Fos) are required for HIV-1 Tat-induced upregulation of COX-2 PubMed
    tat Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT PubMed
    tat HIV-1 Tat enhances IL-2 promoter activity through synergism with phorbol ester and calcium-mediated activation of the NF-AT cis-regulatory motif PubMed
    tat NF-ATc synergizes with NF-kappa B and HIV-1 Tat in transcriptional activation of the HIV-1 LTR promoter and enhances HIV-1 replication in T cells PubMed
    Vpr vpr HIV-1 Vpr induces NFAT in primary T cells and macrophages PubMed
    vpr HIV-1 Vpr stimulates early NFAT activation PubMed
    vpr HIV-1 Vpr upregulates NFAT-directed gene expression PubMed
    Vpu vpu HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef PubMed
    reverse transcriptase gag-pol NFATc facilitates HIV-1 RT reverse transcription activity and enhances HIV-1 infectivity in human T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138448

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    FK506 binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II transcription coactivator binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitogen-activated protein kinase p38 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Wnt signaling pathway, calcium modulating pathway TAS
    Traceable Author Statement
    more info
     
    aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcineurin-NFAT signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of vascular associated smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    nuclear factor of activated T-cells, cytoplasmic 1
    Names
    NFAT transcription complex cytosolic component
    nuclear factor of activated T-cells 'c'
    nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029226.1 RefSeqGene

      Range
      5159..138552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278669.2NP_001265598.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform F

      See identical proteins and their annotated locations for NP_001265598.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (F).
      Source sequence(s)
      EU887559, EU887563, U80917
      Consensus CDS
      CCDS62467.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000389377.2, ENST00000427363.6
      Conserved Domains (2) summary
      cd07881
      Location:416590
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:595695
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    2. NM_001278670.2NP_001265599.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform G

      See identical proteins and their annotated locations for NP_001265599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (G) lacks an internal segment in the C-terminal region, compared to isoform F.
      Source sequence(s)
      EU887561, EU887563, U80917
      Consensus CDS
      CCDS62468.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000442435.1, ENST00000542384.5
      Conserved Domains (2) summary
      cd07881
      Location:416590
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:595695
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    3. NM_001278672.2NP_001265601.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform H

      See identical proteins and their annotated locations for NP_001265601.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, and lacks an in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (H) is shorter; it has a distinct N-terminus and lacks an internal segment in the C-terminal region, compared to isoform F.
      Source sequence(s)
      EU887562, EU887563, HY039825
      Consensus CDS
      CCDS62469.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000466489.1, ENST00000586434.1
      Conserved Domains (2) summary
      cd07881
      Location:403577
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:582682
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    4. NM_001278673.2NP_001265602.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform J

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has an alternate 5' terminal exon and lacks an internal exon in the 5' region, which results in a downstream translation start codon, compared to variant 6. The encoded isoform (J) is shorter at the N-terminus, compared to isoform F.
      Source sequence(s)
      AK293760, EU887559, EU887563, HY039825
      Consensus CDS
      CCDS62471.1
      UniProtKB/Swiss-Prot
      O95644
      UniProtKB/TrEMBL
      B4DER8, F5H4S8
      Related
      ENSP00000439992.1, ENST00000545796.5
      Conserved Domains (2) summary
      cl08275
      Location:1118
      RHD-n; N-terminal sub-domain of the Rel homology domain (RHD)
      cl15674
      Location:123223
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    5. NM_001278675.2NP_001265604.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform I

      See identical proteins and their annotated locations for NP_001265604.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences, compared to variant 6. These differences result in distinct 5' and 3' UTRs and 5' and 3' terminal coding regions, compared to variant 6. The encoded isoform (I) is shorter and has distinct N- and C-termini, compared to isoform F.
      Source sequence(s)
      AA621079, AC018445, EU887566, HY039825
      Consensus CDS
      CCDS62470.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000467181.1, ENST00000592223.5
      Conserved Domains (2) summary
      cd07881
      Location:403577
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:582682
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    6. NM_006162.5NP_006153.2  nuclear factor of activated T-cells, cytoplasmic 1 isoform B

      See identical proteins and their annotated locations for NP_006153.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (B) is truncated at the C-terminus, compared to isoform F.
      Source sequence(s)
      EU887563, U80917
      Consensus CDS
      CCDS12015.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000253506.5, ENST00000253506.9
      Conserved Domains (2) summary
      cd07881
      Location:416590
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:595695
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    7. NM_172387.3NP_765975.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform C

      See identical proteins and their annotated locations for NP_765975.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 6. The encoded isoform (C) is shorter and has a distinct N-terminus, compared to isoform F.
      Source sequence(s)
      EU887560, EU887563, HY039825, U80918
      Consensus CDS
      CCDS32850.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000327850.3, ENST00000329101.8
      Conserved Domains (2) summary
      cd07881
      Location:403577
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:582682
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    8. NM_172388.3NP_765976.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform D

      See identical proteins and their annotated locations for NP_765976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon in the 5' region, which results in a downstream translation start codon, and has an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (D) is shorter at both the N- and C- termini, compared to isoform F.
      Source sequence(s)
      AW014910, EU887563, U80919
      Consensus CDS
      CCDS12016.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000380892.2, ENST00000397790.6
      Conserved Domains (2) summary
      cl08275
      Location:1118
      RHD-n; N-terminal sub-domain of the Rel homology domain (RHD)
      cl15674
      Location:123223
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    9. NM_172389.3NP_765977.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform E

      See identical proteins and their annotated locations for NP_765977.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, and uses an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (E, also known as C.b) is shorter; it has a distinct N-terminus and is truncated at the C-terminus, compared to isoform F.
      Source sequence(s)
      EU887563, HY039825, U59736
      Consensus CDS
      CCDS59327.1
      UniProtKB/Swiss-Prot
      O95644
      Related
      ENSP00000316553.5, ENST00000318065.9
      Conserved Domains (2) summary
      cd07881
      Location:403577
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:582682
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
    10. NM_172390.3NP_765978.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform A

      See identical proteins and their annotated locations for NP_765978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks two exons and its transcription extends past a splice site that is used in variant 6, which results in a novel 3' coding region and 3' UTR, compared to variant 6. The encoded isoform (A) is shorter and has a distinct C-terminus, compared to isoform F.
      Source sequence(s)
      AA621079, AC018445, AK292641, EU887565
      Consensus CDS
      CCDS59326.1
      UniProtKB/Swiss-Prot
      O95644
      UniProtKB/TrEMBL
      A8K9C6
      Related
      ENSP00000466194.1, ENST00000591814.5
      Conserved Domains (3) summary
      cd07881
      Location:416590
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cl15674
      Location:595695
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
      cl26464
      Location:53292
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      79395930..79529323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025783.2XP_016881272.1  nuclear factor of activated T-cells, cytoplasmic 1 isoform X1

      Related
      ENSP00000468111.1, ENST00000587635.5
    Support Center