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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NFATC1 Gene

protein-coding GIFtS: 67
GCID: GC18P077155

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent...

Explore 31 diseases affiliated with
NFATC1 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Factor Of Activated T-Cells, Cytoplasmic, Calcineurin-Dependent 1¹ ²		NFAT Transcription Complex Cytosolic Component² ³
NFAT2¹ ² ³		Nuclear Factor Of Activated T-Cells, Cytoplasmic 1²
NFATc¹ ² ³		NF-ATc³
NF-ATC¹ ²		NFATC³
NF-ATc1² ³		NFATc1³

External Ids:	HGNC: 7775¹	Entrez Gene: 4772²	Ensembl: ENSG00000131196⁷	OMIM: 600489⁵	UniProtKB: O95644³

Export aliases for NFATC1 gene to outside databases

Previous GC identifers: GC18M076683 GC18P077208 GC18P076890 GC18P075254 GC18P075256 GC18P073783

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NFATC1:

The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex.

This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus

upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of

transcription factors play a central role in inducible gene transcription during immune response. The product of this

gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such

as cyclosporin A. Five transcript variants encoding distinct isoforms have been identified for this gene. Different

isoforms of this protein may regulate inducible expression of different cytokine genes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644

Function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the

IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the

activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid

and non-lymphoid cells

Gene Wiki entry for NFATC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_025028.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NFATC1 gene promoter:
MEF-2A GATA-3 MEF-2 FOXO4 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NFATC1 promoter sequence

Search SABiosciences Chromatin IP Primers for NFATC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFATC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q23 Ensembl cytogenetic band: 18q23 HGNC cytogenetic band: 18q23

NFATC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFATC1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P077155: view genomic region (about GC identifiers)

Start:	77,155,772 bp from pter	End:	77,289,325 bp from pter
Size:	133,554 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644 (See protein sequence)

Recommended Name: Nuclear factor of activated T-cells, cytoplasmic 1

Size: 943 amino acids; 101243 Da

Subunit: Member of the multicomponent NFATC transcription complex that consists of at least two components, a

pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4,

NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. NFATC

proteins bind to DNA as monomers

Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after activation

that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one

mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of

NFATC plays a key role in the regulation of gene transcription

2 PDB 3D structures from and Proteopedia for NFATC1:

1A66 (3D)

1NFA (3D)

Secondary accessions: Q12865 Q15793

Alternative splicing, Alternative initiation: 7 isoforms: O95644-1 O95644-2 O95644-3 O95644-4 O95644-5 O95644-6 O95644-8 (Produced by alternative initiation at Met-37 of isoform A-alpha. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFATC1: NX_O95644

Post-translational modifications:

Phosphorylated by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by

calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and

promotes subsequent phosphorylation by GSK3B or casein kinase 1¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95644

NFATC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_006153.2 NP_765975.1 NP_765976.1 NP_765977.1 NP_765978.1

ENSEMBL proteins:

ENSP00000253506 ENSP00000466194 ENSP00000380892 ENSP00000468111 ENSP00000442435

ENSP00000389377 ENSP00000316553 ENSP00000467615 ENSP00000467181 ENSP00000327850

ENSP00000466489 ENSP00000439992

Reactome Protein details: O95644
Human Recombinant Protein Products:

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	Novus Biologicals NFATC1 Protein Novus Biologicals NFATC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NFATC1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000790	nuclear chromatin	IDA	15304486
GO:0005634	nucleus	--	--
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	ISS	--
GO:0005829	cytosol	TAS	--

NFATC1 for ontologies About GeneDecksing

NFATC1 Antibody Products:

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	GenScript Custom Superior Antibodies Services for NFATC1
	Novus Biologicals NFATC1 Antibodies
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	Uscn Antibodies for NFATC1
	ThermoFisher Antibody for NFATC1

Assay Products for NFATC1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NFATC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NFATC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NFATC1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR014756 Ig_E-set

IPR008967 p53-like_TF_DNA-bd

IPR002909 IPT_TIG_rcpt

IPR015647 NFAT1

IPR013783 Ig-like_fold

Graphical View of Domain Structure for InterPro Entry O95644

ProtoNet protein and cluster: O95644

3 Blocks protein families:

IPB002909 Cell surface receptor IPT/TIG

IPB008366 Nuclear factor of activated T cells (NFAT) signature

IPB011539 Rel homology

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644

Domain: Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors

Domain: The N-terminal transactivation domain (TAD-A) binds to and is activated by Cbp/p300. The dephosphorylated form

contains two unmasked nuclear localization signals (NLS), which allow translocation of the protein to the nucleus

Domain: Isoforms C have a C-terminal part with an additional trans-activation domain, TAD-B, which acts as a

transcriptional activator. Isoforms B have a shorter C-terminal part without complete TAD-B which acts as a

transcriptional repressor

Similarity: Contains 1 RHD (Rel-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644

Function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the

IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the

activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid

and non-lymphoid cells

Induction: Only isoforms A are inducibly expressed in T lymphocytes upon activation of the T-cell receptor (TCR)

complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin. Also induced after

co-addition of 12-O-tetradecanoylphorbol-13-acetate (TPA) and ionomycin. Weakly induced with PMA, ionomycin and

cyclosporin A

Genatlas biochemistry entry for NFATC1:

nuclear factor activated T cells,c1 (cytosolic) component,related to the NFKB/REL proteins and forming cooperative

complexes with FOS and JUN on DNA,calcineurin dependent,involved in expression of genes collectively coordinating

immune response

miRNA Products:		OriGene 3'-UTR Clone (see all 5): NFATC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFATC1
		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate NFATC1 (see all 31):
		hsa-miR-3910 hsa-miR-520d-5p hsa-miR-137 hsa-miR-1263 hsa-miR-606 hsa-miR-218 hsa-miR-570 hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: NFATC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFATC1 (see all 4) OriGene shRNA RFP: NFATC1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFATC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NFATC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 5): NFATC1 (NM_172389)
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		Search LifeMap BioReagents cell lines for NFATC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFATC1

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	ISS	--
GO:0001085	RNA polymerase II transcription factor binding	ISS	--
GO:0001205	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ISS	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	9506523

NFATC1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NFATC1:

Decreased viability

Synthetic lethal with imatinib

Animal Models:
Mouse knock-outs for NFATC1: Nfatc1^tm1Glm Nfatc1^tm2Glm Nfatc1^tm1Mak
13 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Nfatc1):

cardiovascular system	cellular	craniofacial	digestive/alimentary	hematopoietic system
homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system
mortality/aging	respiratory system	skeleton

NFATC1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/38 super-pathways (see all 38) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

BAFF in B-Cell Signaling

BAFF in B-Cell Signaling	1.00	Apoptosis and survival_APRIL and BAFF signaling	0.39
APRIL Pathway	0.92	Apoptosis and survival APRIL and BAFF signaling	0.39
RANK Signaling in Osteoclasts	0.45	RANKL/RANK Signaling Pathway	0.24

B cell receptor signaling pathway

B cell receptor signaling pathway	1.00	PI3K Signaling in B-Lymphocyte	0.35
BCR signaling pathway	0.41	TCR Signaling Pathway	0.19
T cell receptor signaling pathway	0.40

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

PKC-Theta Pathway

	PKC-Theta Pathway	1.00			ITK and TCR Signaling	0.54
	TCR Signaling	0.68			Fc-EpsilonRI Pathway	0.42

Immune response_NFAT in immune response

Immune response_NFAT in immune response

1.00

Immune response NFAT in immune response

0.91

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for NFATC1 (see all 6)

	Immune response CD28 signaling
	Signal transduction JNK pathway
	Immune response NFAT in immune response
	Apoptosis and survival APRIL and BAFF signaling
	Immune response T cell receptor signaling pathway

1 R&D Systems Pathway for NFATC1

Wnt Signaling Pathway

5/29 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NFATC1 (see all 29)

	PKA Signaling
	Nur77 Signaling in T-Cell
	Intracellular Calcium Signaling
	NFAT Signaling and Lymphocyte Interactions
	PI3K Signaling in B-Lymphocyte

1 Cell Signaling Technology (CST) Pathway for NFATC1

Lymphocyte Signaling

5/7 GeneGo (Thomson Reuters) Pathways for NFATC1 (see all 7)

	Signal transduction Activation of PKC via G-Protein coupled receptor
	Development VEGF signaling via VEGFR2 - generic cascades
	Signal transduction JNK pathway
	Immune response T cell receptor signaling pathway
	Immune response CD28 signaling

5/11 BioSystems Pathways for NFATC1 (see all 11)

	Heart Development
	RANKL/RANK Signaling Pathway
	B Cell Receptor Signaling Pathway
	TCR Signaling Pathway
	Calcium signaling in the CD4+ TCR pathway

1 Reactome Pathway for NFATC1

Calcineurin Dephosphorylates NFATC1/2/3

1 PharmGKB Pathway for NFATC1

Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

5/7 Kegg Pathways (Kegg details for NFATC1) (see all 7):

	Wnt signaling pathway
	Axon guidance
	VEGF signaling pathway
	Osteoclast differentiation
	Natural killer cell mediated cytotoxicity

NFATC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NFATC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/71 Interacting proteins for NFATC1 (O95644^{2, 3} ENSP00000327850⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³	MINT-3319626 I2D: score=1
OGT	O15294²^,³, ENSP00000362824⁴	MINT-6167028 MINT-6166975 I2D: score=1 STRING: ENSP00000362824
PIM1	P11309³, ENSP00000362608⁴	I2D: score=3 STRING: ENSP00000362608
EGR1	P18146³, ENSP00000239938⁴	I2D: score=2 STRING: ENSP00000239938
SPI1	P17947³, ENSP00000227163⁴	I2D: score=2 STRING: ENSP00000227163

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000082	G1/S transition of mitotic cell cycle	IEA	--
GO:0001837	epithelial to mesenchymal transition	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	8702849
GO:0006816	calcium ion transport	IEA	--

NFATC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NFATC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NFATC1

1 HMDB Compound for NFATC1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

9 Novoseek chemical compound relationships for NFATC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclosporin a	64.9	20	12427739 (3), 9819402 (2), 17392048 (2), 18353617 (1) (see all 15)
tacrolimus	63.7	11	7887301 (1), 9515963 (1), 11897999 (1), 9349628 (1) (see all 8)
ionomycin	46.2	6	9111316 (3), 9843854 (1), 18221508 (1)
calcium	41.8	23	12810687 (3), 17111365 (3), 17606988 (2), 10537109 (1) (see all 15)
sb 203580	35.2	3	17171644 (1), 16498455 (1), 17052691 (1)
rantes	8.93	1	14743390 (1)
glycogen	8.93	5	11063740 (3), 18675800 (1), 12195013 (1)
vegf	1.61	14	12427739 (5), 16840174 (4), 15339657 (1)
phosphatidylinositol	0	1	12745060 (1)

Search CenterWatch for drugs/clinical trials and news about NFATC1 / NFAC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NFATC1 gene (5 alternative transcripts):

NM_006162.3 NM_172387.1 NM_172388.1 NM_172389.1 NM_172390.1

Unigene Cluster for NFATC1:

Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1

Hs.534074 [show with all ESTs]

Unigene Representative Sequence: NM_006162

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000253506 ENST00000591814 ENST00000397790(uc010drc.3) ENST00000587635

ENST00000542384 ENST00000427363 ENST00000318065(uc002lnc.1 uc010xff.1 uc002lnd.3 uc002lne.3 uc010xfg.2 uc010xfh.2)

ENST00000590313 ENST00000592223 ENST00000329101(uc010xfi.1 uc010xfj.2 uc002lnf.3 uc002lng.3 uc010xfk.2)

ENST00000586434 ENST00000590224 ENST00000591065 ENST00000591089 ENST00000590861

ENST00000590172 ENST00000586695 ENST00000545796

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		hsa-miR-3910 hsa-miR-520d-5p hsa-miR-137 hsa-miR-1263 hsa-miR-606 hsa-miR-218 hsa-miR-570 hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: NFATC1 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NFATC1 (see all 11) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NFATC1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFATC1

Additional cDNA sequence:

AK292641.1 AK293760.1 AK309546.1 BC033848.1 BC104753.1 BC112243.1 BC143457.1 EU887559.1

EU887560.1 EU887561.1 EU887562.1 EU887563.1 EU887564.1 EU887565.1 EU887566.1 U08015.1

U59736.1 U80917.1 U80918.1 U80919.1

11 DOTS entries:

DT.86854141 DT.95285691 DT.100747815 DT.442407 DT.100747817 DT.100747816 DT.100691925 DT.95290559

DT.100747818 DT.121083260 DT.121083263

24/133 AceView cDNA sequences (see all 133):

BM354063 BQ877833 CR600003 NM_172388 AI125841 NM_172387 BX328172 AI568690

AI659665 AA514747 NM_172390 AW500400 AW403951 NM_006162 AA361081 AI700887

CR615430 NM_172389 BM718057 BV193082 CB114439 AA679278 AI478166 BQ009672

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for NFATC1 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12
SP1:			-																				-
SP2:																							-						-
SP3:					-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for NFATC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NFATC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTCTTCTGC

About this image

NFATC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/28 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 28)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Endocardial Tube Cells

Selective marker (cell-identifying gene)

Endocardium

Heart

Atrioventricular Endocardial Cushion

Endocardial Cushion Cells

Endocardium

Endocardium

Myocardium

Endocardial Tube Cells

Endocardium

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Heart

Semilunar Valves

Semilunar Valve Cells

Endocardium, Neural Crest

Heart

Atrioventricular Valves

Atrioventricular Valve Cells

Endocardium, Myocardium

Bone

Autopod Periosteum

Immature Endochondral Osteoblasts

Bone

Cervical Vertebrae

Immature Endochondral Osteoblasts

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)

Cartilage

See NFATC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NFATC1

SOURCE GeneReport for Unigene cluster: Hs.534074

UniProtKB/Swiss-Prot: NFAC1_HUMAN, O95644

Tissue specificity: Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially

expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially

expressed in naive T-cells (spleen). Isoforms B are expressed in naive T-cells after first antigen exposure and

isoforms A are expressed in effector T-cells after second antigen exposure

SABiosciences Expression via Pathway-Focused PCR Arrays including NFATC1 (see all 9):

HIV Host Response in human mouse rat

Stem Cell Transcription Factors in human mouse rat

WNT Signaling Pathway in human mouse rat

Stem Cell Signaling in human mouse rat

VEGF Signaling in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NFATC1 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NFATC1¹	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more	75.46(n) 77.37(a)		420815 XM_418906.3 XP_418906.3
lizard (Anolis carolinensis)	Reptilia	NFATC1⁶	--	74(a)	1 ↔ 1	4(52527447-52637496)
zebrafish (Danio rerio)	Actinopterygii	nfatc1¹	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent more	62.44(n) 61.84(a)		568315 NM_001045159.1 NP_001038624.1

ENSEMBL Gene Tree for NFATC1 (if available)
TreeFam Gene Tree for NFATC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NFATC1 gene

NFATC3² NFATC4² NFAT5² NFATC2²

3 SIMAP similar genes for NFATC1 using alignment to 13 protein entries: NFAC1_HUMAN (see all proteins):

NFAT5 NFATC2 NFATC3

NFATC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7244445^1,2	C,	--	73781509(+)	`CCACGC/TGGGGC`	3	--	int¹		4		NA WA EA	360
rs66920840^1,2	C,F,	--	73796585(+)	`TCCTCG/ATCCAT`	1	--	int¹		7		WA CSA NA EA	365
rs1562724^1,2	C,F,A,H,	--	73796751(+)	`TTTATC/TCCTCA`	1	--	int¹		20		NS EA NA WA CSA	2345
rs59792853^1,2		--	73804350(+)	`TGTGGC/TGGGAG`	1	--	int¹		0	--	--	--	--
rs73494223^1,2	C,F,	--	73814826(+)	`GGACGT/GCTGGC`	1	--	int¹		1		WA	118
rs185536051^1,2		--	77153780(+)	`GAAGAA/GGAAAG`	3	--	us2k¹		0	--	--	--	--
rs142036145^1,2		--	77153907(+)	`TGCGCC/TTGGCG`	3	--	us2k¹		0	--	--	--	--
rs75298862^1,2	C,F,	--	77153995(+)	`AAGGAC/GGGCTT`	3	--	us2k¹		2		WA NA	238
rs77258694^1,2	C,	--	77153996(+)	`AGGACA/GGCTTT`	3	--	us2k¹		0	--	--	--	--
rs145875564^1,2		--	77154009(+)	`GAGCAA/GACAGG`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NFATC1 (77155772 - 77289325 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 15 variations for NFATC1
8 CNVs: 102745 5064 73220 78016 78015 73221 89018 73222
7 Indels: 45710 11999 11998 45711 42066 45712 26148
Human Gene Mutation Database (HGMD): NFATC1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NFATC1 for disorders           About GeneDecksing

OMIM gene information: 600489    OMIM disorders: --

20/31 diseases for NFATC1 (see all 31):    About MalaCards

down syndrome critical region ventricular septal defect wiskott-aldrich syndrome bullous pemphigoid

enchondroma cherubism microphthalmia down syndrome

chronic lymphocytic leukemia lymphocytic leukemia ulcerative colitis osteopetrosis

osteoporosis colon carcinoma rheumatoid arthritis hepatitis b

chondrosarcoma t-cell leukemia leukemia arthritis

4 diseases from the University of Copenhagen DISEASES database for NFATC1:

Osteoporosis Cherubism Rheumatoid arthritis Osteopetrosis

8 Novoseek disease relationships for NFATC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
microphthalmia	58	5	15304486 (1), 16109714 (1), 16586042 (1), 19801646 (1) (see all 5)
bone diseases	49.5	1	19449179 (1)
osteoporosis	37.9	1	17392048 (1)
necrosis	11.7	1	17485464 (1)
colon carcinoma	2.27	1	15632146 (1)
inflammation	2.11	3	18350607 (2), 17606988 (1)
heart diseases	0	1	9515963 (1)
tumors	0	3	16874304 (1), 17485464 (1), 19565565 (1)

Human Genome Epidemiology (HuGE) Navigator: NFATC1 (11 documents)

Export disorders for NFATC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NFATC1 gene, integrated from 9 sources (see all 276):
(articles sorted by number of sources associating them with NFATC1)

Utopia: connect your pdf to the dynamic
world of online information

NF-AT components define a family of transcription factors targeted in T-cell activation. (PubMed id 8202141)^{1, 2, 3} Northrop J.P.... Crabtree G.R. (1994)
Identification of amino acid residues and protein kinases involved in the regulation of NFATc subcellular localization. (PubMed id 10652349)^{1, 2, 9} Porter C.M.... Clipstone N.A. (2000)
Multiple NF-ATc isoforms with individual transcriptional properties are synthesized in T lymphocytes. (PubMed id 10358178)^{1, 2, 9} Chuvpilo S.... Serfling E. (1999)
Protein kinase A negatively modulates the nuclear accumulation of NF-ATc1 by priming for subsequent phosphorylation by glycogen synthase kinase-3. (PubMed id 12351631)^{1, 2, 9} Sheridan C.M....Gardner P. (2002)
Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT. (PubMed id 10089876)^{1, 2} Crabtree G.R. (1999)
Alternative polyadenylation events contribute to the induction of NF- ATc in effector T cells. (PubMed id 10072078)^{1, 2} Chuvpilo S.... Serfling E. (1999)
Solution structure of the core NFATC1/DNA complex. (PubMed id 9506523)^{1, 2} Zhou P.... Verdine G.L. (1998)
Nuclear export of NF-ATc enhanced by glycogen synthase kinase-3. (PubMed id 9072970)^{1, 2} Beals C.R....Crabtree G.R. (1997)
Characterization of a new isoform of the NFAT (nuclear factor of activated T cells) gene family member NFATc. (PubMed id 8702849)^{1, 2} Park J.... Sharma S. (1996)
FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression. (PubMed id 19564342)^{1, 9} Torgerson T.R....Cron R.Q. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4772	HGNC: 7775	AceView: NFATC1	Ensembl:ENSG00000131196	euGenes: HUgn4772
ECgene: NFATC1	Kegg: 4772	H-InvDB: NFATC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NFATC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NFATC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NFATC1 gene:
Search GeneIP for patents involving NFATC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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