NFAT5 - nuclear factor of activated T cells 5 Gene

Homo sapiens

Also known as NFATZ; OREBP; NF-AT5; NFATL1; TONEBP

Gene ID: 10725 | Gene type: protein coding

About NFAT5

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,565,966-69,704,654 (from NCBI)

This gene has 17 transcripts (splice variants), 279 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 6.6), placenta (RPKM 5.9) and 25 other tissues.

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]

NFAT5 Products(7)

mRNA	Protein	Name
NM_001113178.3	NP_001106649.1	nuclear factor of activated T-cells 5 isoform d
NM_001367709.1	NP_001354638.1	nuclear factor of activated T-cells 5 isoform e
NM_006599.4	NP_006590.1	nuclear factor of activated T-cells 5 isoform c
NM_138713.4	NP_619727.2	nuclear factor of activated T-cells 5 isoform b
NM_138714.4	NP_619728.2	nuclear factor of activated T-cells 5 isoform a
NM_173214.3	NP_775321.1	nuclear factor of activated T-cells 5 isoform a
NM_173215.3	NP_775322.1	nuclear factor of activated T-cells 5 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11485737	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11485737	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	34049076	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20351292	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	34049076	GOA
involved in R-loop processing	IDA IDA: Inferred from direct assay	34049076	GOA
involved in cellular response to cytokine stimulus	IMP IMP: Inferred from mutant phenotype	25515214	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	25515214	GOA
involved in positive regulation of leukocyte adhesion to vascular endothelial cell	IMP IMP: Inferred from mutant phenotype	25515214	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11485737	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	12370307	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NFAT5 Protein Structure

RHD_DNA_bind

0
300
600
900
1200
1531 a.a.

Protein Preferred Names

Protein Names

nuclear factor of activated T-cells 5

NFAT-like protein 1

NFAT5 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NFAT5	O94916	DDX5	Homo sapiens	P17844	PLA	22266867
Intra	NFAT5	O94916	DDX17	Homo sapiens	Q92841	Anti Tag CoIP	22266867
Intra	NFAT5	O94916	DDX17	Homo sapiens	Q92841	PLA	22266867

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome

Nfat5 Haploinsufficiency

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112125A	KRN2 bromide		98.13%	Unkown
HY-112126	KRN5		98.76%	Unkown
HY-112125	KRN2		98.04%	Unkown
HY-12117	L-NIL hydrochloride	Inhibitor	/	Unkown
HY-RS09237	NFAT5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NFAT5	VGNC	VGNC:75325
Mus musculus	NFAT5	MGD	MGI:1859333
Bos taurus	NFAT5	VGNC	VGNC:32029
Canis familiaris	NFAT5	VGNC	VGNC:43765
Felis catus	NFAT5	VGNC	VGNC:68468
Rattus norvegicus	NFAT5	RGD	RGD:1309142

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