NFATC1 (nuclear factor of activated T cells 1)

2007-02-01  

Identity

HGNC
NFATC1
LOCATION
18q23
LOCUSID
4772
ALIAS
NF-ATC,NF-ATc1.2,NFAT2,NFATc
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131196ENST00000253506O95644
ENSG00000131196ENST00000318065O95644
ENSG00000131196ENST00000329101O95644
ENSG00000131196ENST00000397790O95644
ENSG00000131196ENST00000427363O95644
ENSG00000131196ENST00000542384O95644
ENSG00000131196ENST00000545796F5H4S8
ENSG00000131196ENST00000586434O95644
ENSG00000131196ENST00000587635K7ER53
ENSG00000131196ENST00000590313K7EQ04
ENSG00000131196ENST00000591814O95644
ENSG00000131196ENST00000592223O95644

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Wnt signaling pathwayKEGGko04310
Natural killer cell mediated cytotoxicityKEGGko04650
T cell receptor signaling pathwayKEGGko04660
B cell receptor signaling pathwayKEGGko04662
MAPK signaling pathwayKEGGhsa04010
Wnt signaling pathwayKEGGhsa04310
Natural killer cell mediated cytotoxicityKEGGhsa04650
T cell receptor signaling pathwayKEGGhsa04660
B cell receptor signaling pathwayKEGGhsa04662
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Hepatitis BKEGGhsa05161
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated Ca+2 mobilizationREACTOMER-HSA-2871809
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
CLEC7A (Dectin-1) induces NFAT activationREACTOMER-HSA-5607763
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
Ca2+ pathwayREACTOMER-HSA-4086398
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33678PPP3CAGenePathwayassociated23922006
PA33679PPP3CBGenePathwayassociated23922006
PA33680PPP3CCGenePathwayassociated23922006
PA33681PPP3R1GenePathwayassociated23922006
PA33682PPP3R2GenePathwayassociated23922006

References

Pubmed IDYearTitleCitations
377588522024Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.0
383102282024Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.0
377588522024Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.0
383102282024Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.0
366805542023Risk 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
367668462023NFATc1 Regulation of Dexamethasone-Induced TGFB2 Expression Is Cell Cycle Dependent in Trabecular Meshwork Cells.1
372485422023Human bone marrow-derived mesenchymal stem overexpressing microRNA-124-3p inhibit DLBCL progression by downregulating the NFATc1/cMYC pathway.2
372492332023Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.1
373429572023Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.2
373476642023NFAT and NF-κB dynamically co-regulate TCR and CAR signaling responses in human T cells.6
373925432023SIRT3-and FAK-mediated acetylation-phosphorylation crosstalk of NFATc1 regulates N(ε)-carboxymethyl-lysine-induced vascular calcification in diabetes mellitus.1
375351482023USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.1
378145502023The role of NFATc1 in the progression and metastasis of prostate cancer: A review on the molecular mechanisms and signaling pathways.0
379571462023Exosome-targeted delivery of METTL14 regulates NFATc1 m6A methylation levels to correct osteoclast-induced bone resorption.3
366805542023Risk 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/js/lib/js/gene-explorer/