• Gene id: 10725

Gene Summary

• Gene Symbol: NFAT5   Gene   UCSC   Ensembl
• Aliases: NF-AT5, NFATL1, NFATZ, OREBP, TONEBP
• Gene name: nuclear factor of activated T cells 5
• Alternate names: nuclear factor of activated T-cells 5, 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-respon,
• Gene location: 16q22.1 (69565951: 69704653)     Exons: 19     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 604708

Protein Summary

• Protein general information: O94916  
  • Name: Nuclear factor of activated T cells 5 (NF AT5) (T cell transcription factor NFAT5) (Tonicity responsive enhancer binding protein) (TonE binding protein) (TonEBP)
  • Length: 1531  
  • Mass: 165763
  • Tissue specificity: Widely expressed, with highest levels in skeletal muscle, brain, heart and peripheral blood leukocytes. {ECO
• Sequence:

  MPSDFISLLSADLDLESPKSLYSRESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSS
  SMGGACSSFTTSSSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPED
  LLDNSRMSCQDEGCGLESEQSCSMWMEDSPSNFSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIF
  DADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKELKIVVQPETQHRARYLTEG
  SRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEVDIEGTTVIEVGLDPS
  NNMTLAVDCVGILKLRNADVEARIGIAGSKKKSTRARLVFRVNIMRKDGSTLTLQTPSSPILCTQPAGVPEILKK
  SLHSCSVKGEEEVFLIGKNFLKGTKVIFQENVSDENSWKSEAEIDMELFHQNHLIVKVPPYHDQHITLPVSVGIY
  VVTNAGRSHDVQPFTYTPDPAAAGALNVNVKKEISSPARPCSFEEAMKAMKTTGCNLDKVNIIPNALMTPLIPSS
  MIKSEDVTPMEVTAEKRSSTIFKTTKSVGSTQQTLENISNIAGNGSFSSPSSSHLPSENEKQQQIQPKAYNPETL
  TTIQTQDISQPGTFPAVSASSQLPNSDALLQQATQFQTRETQSREILQSDGTVVNLSQLTEASQQQQQSPLQEQA
  QTLQQQISSNIFPSPNSVSQLQNTIQQLQAGSFTGSTASGSSGSVDLVQQVLEAQQQLSSVLFSAPDGNENVQEQ
  LSADIFQQVSQIQSGVSPGMFSSTEPTVHTRPDNLLPGRAESVHPQSENTLSNQQQQQQQQQQVMESSAAMVMEM
  QQSICQAAAQIQSELFPSTASANGNLQQSPVYQQTSHMMSALSTNEDMQMQCELFSSPPAVSGNETSTTTTQQVA
  TPGTTMFQTSSSGDGEETGTQAKQIQNSVFQTMVQMQHSGDNQPQVNLFSSTKSMMSVQNSGTQQQGNGLFQQGN
  EMMSLQSGNFLQQSSHSQAQLFHPQNPIADAQNLSQETQGSLFHSPNPIVHSQTSTTSSEQMQPPMFHSQSTIAV
  LQGSSVPQDQQSTNIFLSQSPMNNLQTNTVAQEAFFAAPNSISPLQSTSNSEQQAAFQQQAPISHIQTPMLSQEQ
  AQPPQQGLFQPQVALGSLPPNPMPQSQQGTMFQSQHSIVAMQSNSPSQEQQQQQQQQQQQQQQQQQSILFSNQNT
  MATMASPKQPPPNMIFNPNQNPMANQEQQNQSIFHQQSNMAPMNQEQQPMQFQSQSTVSSLQNPGPTQSESSQTP
  LFHSSPQIQLVQGSPSSQEQQVTLFLSPASMSALQTSINQQDMQQSPLYSPQNNMPGIQGATSSPQPQATLFHNT
  AGGTMNQLQNSPGSSQQTSGMFLFGIQNNCSQLLTSGPATLPDQLMAISQPGQPQNEGQPPVTTLLSQQMPENSP
  LASSINTNQNIEKIDLLVSLQNQGNNLTGSF

• Structural information:
  • Protein Domains: (264..44-)
    (/note="RHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00265"-)
  • Interpro: IPR013783  IPR014756  IPR002909  IPR008366  IPR015646   IPR008967  IPR032397  IPR011539  IPR037059  
  • Prosite: PS50254
  • PDB: 1IMH
  • PDBsum: 1IMH
  • DIP: 58524
  • STRING: ENSP00000457593
• Other Databases: GeneCards:  NFAT5  Malacards:  NFAT5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:1904996	positive regulation of leukocyte adhesion to vascular endothelial cell	IMP	biological process
GO:0071345	cellular response to cytokine stimulus	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0033173	calcineurin-NFAT signaling cascade	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001816	cytokine production	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0070884	regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001816	cytokine production	IEA	biological process
GO:0006970	response to osmotic stress	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881