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

    Gene ID: 10725, updated on 9-Dec-2024

    Summary

    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 MIM:604708; AllianceGenome:HGNC:7774
    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]
    Expression
    Ubiquitous expression in skin (RPKM 6.6), placenta (RPKM 5.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NFAT5 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69565966..69704654)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (75368170..75506838)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69599869..69738557)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371325 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:69556814-69558013 Neighboring gene Sharpr-MPRA regulatory region 4304 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:69563811-69565010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69597937-69598833 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:69599594-69599770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7664 Neighboring gene microRNA 1538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11043 Neighboring gene MPRA-validated peak2631 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr16:69753551-69753732 Neighboring gene small nucleolar RNA, C/D box 13H Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:69760025-69761224 Neighboring gene NAD(P)H quinone dehydrogenase 1

    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?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0827

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..144561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1332

    mRNA and Protein(s)

    1. NM_001113178.3NP_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
      ENSP00000457593.1, ENST00000567239.5
      Conserved Domains (3) 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.
      pfam03153
      Location:12991460
      TFIIA; Transcription factor IIA, alpha/beta subunit
    2. NM_001367709.1NP_001354638.1  nuclear factor of activated T-cells 5 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC009032, AC012321
    3. NM_006599.4NP_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
      A2RRB4, A6H8V5, E9PHR7, O94916, O95693, Q7LA65, Q969Q8, Q96QH3, Q9UN18
      Related
      ENSP00000346420.2, ENST00000354436.6
      Conserved Domains (3) 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.
      pfam03153
      Location:12821443
      TFIIA; Transcription factor IIA, alpha/beta subunit
    4. NM_138713.4NP_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
      ENSP00000338806.3, ENST00000349945.7
      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.
    5. NM_138714.4NP_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
      Conserved Domains (3) 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.
      pfam03153
      Location:12061367
      TFIIA; Transcription factor IIA, alpha/beta subunit
    6. NM_173214.3NP_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
      Conserved Domains (3) 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.
      pfam03153
      Location:12061367
      TFIIA; Transcription factor IIA, alpha/beta subunit
    7. NM_173215.3NP_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, AC012321, AF163836, AJ005683, AJ243298
      Conserved Domains (3) 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.
      pfam03153
      Location:12061367
      TFIIA; Transcription factor IIA, alpha/beta subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      69565966..69704654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522817.4XP_011521119.1  nuclear factor of activated T-cells 5 isoform X1

      Conserved Domains (3) 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.
      pfam03153
      Location:12811442
      TFIIA; Transcription factor IIA, alpha/beta subunit
    2. XM_011522822.4XP_011521124.1  nuclear factor of activated T-cells 5 isoform X5

      See identical proteins and their annotated locations for XP_011521124.1

      Conserved Domains (3) 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.
      pfam03153
      Location:10761237
      TFIIA; Transcription factor IIA, alpha/beta subunit
    3. XM_047433511.1XP_047289467.1  nuclear factor of activated T-cells 5 isoform X2

    4. XM_011522820.4XP_011521122.1  nuclear factor of activated T-cells 5 isoform X5

      See identical proteins and their annotated locations for XP_011521122.1

      Conserved Domains (3) 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.
      pfam03153
      Location:10761237
      TFIIA; Transcription factor IIA, alpha/beta subunit
    5. XM_047433510.1XP_047289466.1  nuclear factor of activated T-cells 5 isoform X2

    6. XM_047433513.1XP_047289469.1  nuclear factor of activated T-cells 5 isoform X4

    7. XM_047433512.1XP_047289468.1  nuclear factor of activated T-cells 5 isoform X3

    8. XM_047433514.1XP_047289470.1  nuclear factor of activated T-cells 5 isoform X5

    9. XM_047433515.1XP_047289471.1  nuclear factor of activated T-cells 5 isoform X6

    10. XM_017022872.3XP_016878361.1  nuclear factor of activated T-cells 5 isoform X5

      Conserved Domains (3) 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.
      pfam03153
      Location:10761237
      TFIIA; Transcription factor IIA, alpha/beta subunit

    RNA

    1. XR_007064848.1 RNA Sequence

      Related
      ENST00000426654.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      75368170..75506838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379401.1XP_054235376.1  nuclear factor of activated T-cells 5 isoform X1

    2. XM_054379409.1XP_054235384.1  nuclear factor of activated T-cells 5 isoform X5

    3. XM_054379403.1XP_054235378.1  nuclear factor of activated T-cells 5 isoform X2

    4. XM_054379407.1XP_054235382.1  nuclear factor of activated T-cells 5 isoform X5

    5. XM_054379402.1XP_054235377.1  nuclear factor of activated T-cells 5 isoform X2

    6. XM_054379405.1XP_054235380.1  nuclear factor of activated T-cells 5 isoform X4

    7. XM_054379404.1XP_054235379.1  nuclear factor of activated T-cells 5 isoform X3

    8. XM_054379406.1XP_054235381.1  nuclear factor of activated T-cells 5 isoform X5

    9. XM_054379410.1XP_054235385.1  nuclear factor of activated T-cells 5 isoform X6

    10. XM_054379408.1XP_054235383.1  nuclear factor of activated T-cells 5 isoform X5

    RNA

    1. XR_008489049.1 RNA Sequence