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

Gene ID: 10725, updated on 3-Jan-2019

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
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

Genomic context

See NFAT5 in Genome Data Viewer
Location:
16q22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 small nucleolar RNA, C/D box 13H 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0827

Gene Ontology Provided by GOA

Process Evidence Code Pubs
calcineurin-NFAT signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excretion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of leukocyte adhesion to vascular endothelial cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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)

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
    ENSP00000457593.1, 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_006599.3NP_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
    ENSP00000346420.2, 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
    ENSP00000486610.1, ENST00000627621.2
    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:13001461
    TFIIA; Transcription factor IIA, alpha/beta subunit
  5. 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
    UniProtKB/Swiss-Prot
    O94916
    UniProtKB/TrEMBL
    A0A024R734
    Related
    ENSP00000338806.2, ENST00000349945.5
    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_173214.2NP_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
    UniProtKB/Swiss-Prot
    O94916
    UniProtKB/TrEMBL
    A0A024R734
    Related
    ENSP00000377343.2, ENST00000393742.6
    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_173215.2NP_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
    ENSP00000455628.1, ENST00000566899.5
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011522819.3XP_011521121.1  nuclear factor of activated T-cells 5 isoform X5

    See identical proteins and their annotated locations for XP_011521121.1

    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
  2. XM_011522818.3XP_011521120.1  nuclear factor of activated T-cells 5 isoform X3

    See identical proteins and their annotated locations for XP_011521120.1

    UniProtKB/Swiss-Prot
    O94916
    UniProtKB/TrEMBL
    A0A024R734
    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
  3. XM_017022871.2XP_016878360.1  nuclear factor of activated T-cells 5 isoform X4

  4. XM_011522817.3XP_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
  5. XM_017022873.2XP_016878362.1  nuclear factor of activated T-cells 5 isoform X6

  6. XM_006721125.4XP_006721188.1  nuclear factor of activated T-cells 5 isoform X2

    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_011522822.3XP_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
  8. XM_011522820.3XP_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
  9. XM_017022870.2XP_016878359.1  nuclear factor of activated T-cells 5 isoform X3

    UniProtKB/Swiss-Prot
    O94916
    UniProtKB/TrEMBL
    A0A024R734
    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
  10. XM_017022872.2XP_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
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