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    NFAT5 nuclear factor of activated T-cells 5 [ Homo sapiens (human) ]

    Gene ID: 10725, updated on 25-Jul-2016
    Official Symbol
    NFAT5provided by HGNC
    Official Full Name
    nuclear factor of activated T-cells 5provided by HGNC
    Primary source
    HGNC:HGNC:7774
    See related
    Ensembl:ENSG00000102908 HPRD:05272; MIM:604708; Vega:OTTHUMG00000137572
    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
    NFATZ; OREBP; NF-AT5; NFATL1; TONEBP
    Summary
    The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    16q22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (69565952..69704666)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69599869..69738569)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371325 Neighboring gene microRNA 1538 Neighboring gene NAD(P)H quinone dehydrogenase 1 Neighboring gene NIN1/PSMD8 binding protein 1 homolog

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    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
    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
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0827

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    excretion TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of calcineurin-NFAT signaling cascade IEA
    Inferred from Electronic Annotation
    more info
     
    response to osmotic stress IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    nuclear factor of activated T-cells 5
    Names
    NFAT-like protein 1
    T-cell transcription factor NFAT5
    TonE-binding protein
    glutamine rich protein H65
    nuclear factor of activated T-cells 5, tonicity-responsive
    osmotic response element-binding protein
    tonicity-responsive enhancer-binding protein

    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_029600.1 RefSeqGene

      Range
      5873..144573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001113178.2NP_001106649.1  nuclear factor of activated T-cells 5 isoform d

      See identical proteins and their annotated locations for NP_001106649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' region and uses an alternate in-frame splice site in the central coding region, compared to variant 1. These differences result in an isoform (d) with a longer N-terminus and lacking an internal aa, compared to isoform a.
      Source sequence(s)
      AA291524, AC009032, AC012321, BC131509
      Consensus CDS
      CCDS45519.1
      UniProtKB/Swiss-Prot
      O94916
      Related
      ENSP00000457593, OTTHUMP00000255211, ENST00000567239, OTTHUMT00000433973
      Conserved Domains (2) summary
      cd07882
      Location:298458
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:462561
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    2. NM_006599.3NP_006590.1  nuclear factor of activated T-cells 5 isoform c

      See identical proteins and their annotated locations for NP_006590.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 5' region, compared to variant 1. This difference causes translation initiation at an upstream start codon and results in an isoform (c) with a longer N-terminus compared to isoform a.
      Source sequence(s)
      AA291524, AB020634, AC009032, AC012321
      Consensus CDS
      CCDS10881.1
      UniProtKB/Swiss-Prot
      O94916
      Related
      ENSP00000346420, OTTHUMP00000174893, ENST00000354436, OTTHUMT00000268952
      Conserved Domains (2) summary
      cd07882
      Location:280440
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:444543
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    3. NM_138713.3NP_619727.2  nuclear factor of activated T-cells 5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region, compared to variant 1. This difference causes translation initiation at an upstream start codon and results in an isoform (b) with a longer N-terminus compared to isoform a.
      Source sequence(s)
      AA291524, AC009032, AC012321, AJ243299, BC131509
      Consensus CDS
      CCDS45518.1
      UniProtKB/Swiss-Prot
      O94916
      Related
      ENSP00000486610, OTTHUMP00000278553, ENST00000627621, OTTHUMT00000481777
      Conserved Domains (2) summary
      cd07882
      Location:298458
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:462561
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    4. NM_138714.3NP_619728.2  nuclear factor of activated T-cells 5 isoform a

      See identical proteins and their annotated locations for NP_619728.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. This variant and variants 4 and 5 encode the same isoform (a).
      Source sequence(s)
      AA291524, AB020634, AC012321, AF346509
      Consensus CDS
      CCDS10882.1
      UniProtKB/Swiss-Prot
      O94916
      UniProtKB/TrEMBL
      A0A024R734
      Related
      ENSP00000338806, ENST00000349945
      Conserved Domains (2) summary
      cd07882
      Location:204364
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:368467
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    5. NM_173214.2NP_775321.1  nuclear factor of activated T-cells 5 isoform a

      See identical proteins and their annotated locations for NP_775321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 4 and 5 encode the same isoform (a).
      Source sequence(s)
      AA291524, AC009032, AC012321, AF089824
      Consensus CDS
      CCDS10882.1
      UniProtKB/Swiss-Prot
      O94916
      UniProtKB/TrEMBL
      A0A024R734
      Related
      ENSP00000377343, OTTHUMP00000174894, ENST00000393742, OTTHUMT00000268953
      Conserved Domains (2) summary
      cd07882
      Location:204364
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:368467
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    6. NM_173215.2NP_775322.1  nuclear factor of activated T-cells 5 isoform a

      See identical proteins and their annotated locations for NP_775322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs, compared to variant 1. It encodes isoform a, which is also encoded by variants 1 and 4.
      Source sequence(s)
      AA321843, AC009032, AF163836, AJ005683, AJ243298
      UniProtKB/Swiss-Prot
      O94916
      UniProtKB/TrEMBL
      A0A024R734
      Related
      ENSP00000455628, OTTHUMP00000255212, ENST00000566899, OTTHUMT00000433974
      Conserved Domains (2) summary
      cd07882
      Location:204364
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:368467
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      69565952..69704666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522819.2XP_011521121.1  

      See identical proteins and their annotated locations for XP_011521121.1

      Conserved Domains (2) summary
      cd07882
      Location:74234
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:238337
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    2. XM_017022871.1XP_016878360.1  

    3. XM_011522818.2XP_011521120.1  

      See identical proteins and their annotated locations for XP_011521120.1

      UniProtKB/Swiss-Prot
      O94916
      UniProtKB/TrEMBL
      A0A024R734
      Conserved Domains (2) summary
      cd07882
      Location:204364
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:368467
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    4. XM_011522817.2XP_011521119.1  

      Conserved Domains (2) summary
      cd07882
      Location:280440
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:444543
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    5. XM_017022873.1XP_016878362.1  

    6. XM_006721125.3XP_006721188.1  

      See identical proteins and their annotated locations for XP_006721188.1

      UniProtKB/Swiss-Prot
      O94916
      Conserved Domains (3) summary
      cd07882
      Location:233393
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:397496
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
      pfam03153
      Location:12351396
      TFIIA; Transcription factor IIA, alpha/beta subunit
    7. XM_011522822.2XP_011521124.1  

      See identical proteins and their annotated locations for XP_011521124.1

      Conserved Domains (2) summary
      cd07882
      Location:74234
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:238337
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    8. XM_011522820.2XP_011521122.1  

      See identical proteins and their annotated locations for XP_011521122.1

      Conserved Domains (2) summary
      cd07882
      Location:74234
      RHD-n_TonEBP; N-terminal sub-domain of the Rel homology domain (RHD) of tonicity-responsive enhancer binding protein (TonEBP)
      cd01178
      Location:238337
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    9. XM_017022870.1XP_016878359.1  

    10. XM_017022872.1XP_016878361.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      71007818..71146456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)