NFAT5 - nuclear factor of activated T cells 5 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10725

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
Molecular Function GO Annotation Evidence Références 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 Références 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 Références 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

RHD_DNA_bind: Rel homology DNA-binding domain (282 - 419)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
NFAT5 O94916 DDX5 Homo sapiens P17844
PLA
22266867
Intra
NFAT5 O94916 DDX17 Homo sapiens Q92841 22266867
Intra
NFAT5 O94916 DDX17 Homo sapiens Q92841
PLA
22266867
Cross: Cross-species interaction Intra: Intraspecies interaction

NFAT5 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P85699 NFAT5 Antibody (YA5391) IHC-P, WB Human, Mouse, Rat

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

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
Others NFAT5 NCBI