NFATC1 (nuclear factor of activated T cells 1)

2007-02-01 Affiliation

Identity

HGNC

NFATC1

LOCATION

18q23

LOCUSID

4772

ALIAS

NF-ATC,NF-ATc1.2,NFAT2,NFATc

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4772
MIM: 600489
HGNC: 7775
Ensembl: ENSG00000131196

Variants:

dbSNP: 4772
ClinVar: 4772
TCGA: ENSG00000131196
COSMIC: NFATC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131196	ENST00000253506	O95644
ENSG00000131196	ENST00000318065	O95644
ENSG00000131196	ENST00000329101	O95644
ENSG00000131196	ENST00000397790	O95644
ENSG00000131196	ENST00000427363	O95644
ENSG00000131196	ENST00000542384	O95644
ENSG00000131196	ENST00000545796	F5H4S8
ENSG00000131196	ENST00000586434	O95644
ENSG00000131196	ENST00000587635	K7ER53
ENSG00000131196	ENST00000590313	K7EQ04
ENSG00000131196	ENST00000591814	O95644
ENSG00000131196	ENST00000592223	O95644

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
Wnt signaling pathway	KEGG	ko04310
Natural killer cell mediated cytotoxicity	KEGG	ko04650
T cell receptor signaling pathway	KEGG	ko04660
B cell receptor signaling pathway	KEGG	ko04662
MAPK signaling pathway	KEGG	hsa04010
Wnt signaling pathway	KEGG	hsa04310
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
T cell receptor signaling pathway	KEGG	hsa04660
B cell receptor signaling pathway	KEGG	hsa04662
Osteoclast differentiation	KEGG	ko04380
Osteoclast differentiation	KEGG	hsa04380
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
Hepatitis B	KEGG	hsa05161
Inflammatory bowel disease (IBD)	KEGG	hsa05321
Inflammatory bowel disease (IBD)	KEGG	ko05321
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated Ca+2 mobilization	REACTOME	R-HSA-2871809
C-type lectin receptors (CLRs)	REACTOME	R-HSA-5621481
CLEC7A (Dectin-1) signaling	REACTOME	R-HSA-5607764
CLEC7A (Dectin-1) induces NFAT activation	REACTOME	R-HSA-5607763
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
AGE-RAGE signaling pathway in diabetic complications	KEGG	ko04933
AGE-RAGE signaling pathway in diabetic complications	KEGG	hsa04933
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Th17 cell differentiation	KEGG	ko04659
Th17 cell differentiation	KEGG	hsa04659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA33678	PPP3CA	Gene	Pathway	associated	23922006
PA33679	PPP3CB	Gene	Pathway	associated	23922006
PA33680	PPP3CC	Gene	Pathway	associated	23922006
PA33681	PPP3R1	Gene	Pathway	associated	23922006
PA33682	PPP3R2	Gene	Pathway	associated	23922006

References

Pubmed ID	Year	Title	Citations
37758852	2024	Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.	0
38310228	2024	Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.	0
37758852	2024	Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.	0
38310228	2024	Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.	0
36680554	2023	Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases.	0
36766846	2023	NFATc1 Regulation of Dexamethasone-Induced TGFB2 Expression Is Cell Cycle Dependent in Trabecular Meshwork Cells.	1
37248542	2023	Human bone marrow-derived mesenchymal stem overexpressing microRNA-124-3p inhibit DLBCL progression by downregulating the NFATc1/cMYC pathway.	2
37249233	2023	Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.	1
37342957	2023	Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.	2
37347664	2023	NFAT and NF-κB dynamically co-regulate TCR and CAR signaling responses in human T cells.	6
37392543	2023	SIRT3-and FAK-mediated acetylation-phosphorylation crosstalk of NFATc1 regulates N(ε)-carboxymethyl-lysine-induced vascular calcification in diabetes mellitus.	1
37535148	2023	USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.	1
37814550	2023	The role of NFATc1 in the progression and metastasis of prostate cancer: A review on the molecular mechanisms and signaling pathways.	0
37957146	2023	Exosome-targeted delivery of METTL14 regulates NFATc1 m6A methylation levels to correct osteoclast-induced bone resorption.	3
36680554	2023	Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases.	0

Citation

Dessen P

NFATC1 (nuclear factor of activated T cells 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43698/case-report-explorer/js/lib/teaching-explorer/