• Gene id: 4772

Gene Summary

• Gene Symbol: NFATC1   Gene   UCSC   Ensembl
• Aliases: NF-ATC, NF-ATc1.2, NFAT2, NFATc
• Gene name: nuclear factor of activated T cells 1
• Alternate names: nuclear factor of activated T-cells, cytoplasmic 1, NFAT transcription complex cytosolic component, nuclear factor of activated T-cells 'c', nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1,
• Gene location: 18q23 (79395929: 79529322)     Exons: 11     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 600489

Protein Summary

• Protein general information: O95644  
  • Name: Nuclear factor of activated T cells, cytoplasmic 1 (NF ATc1) (NFATc1) (NFAT transcription complex cytosolic component) (NF ATc) (NFATc)
  • Length: 943  
  • Mass: 101243
  • 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-
• Sequence:

  MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEEEHYGYASSNVSPALPLPTAHSTLPAPCHNLQTS
  TPGIIPPADHPSGYGAALDGGPAGYFLSSGHTRPDGAPALESPRIEITSCLGLYHNNNQFFHDVEVEDVLPSSKR
  SPSTATLSLPSLEAYRDPSCLSPASSLSSRSCNSEASSYESNYSYPYASPQTSPWQSPCVSPKTTDPEEGFPRGL
  GACTLLGSPRHSPSTSPRASVTEESWLGARSSRPASPCNKRKYSLNGRQPPYSPHHSPTPSPHGSPRVSVTDDSW
  LGNTTQYTSSAIVAAINALTTDSSLDLGDGVPVKSRKTTLEQPPSVALKVEPVGEDLGSPPPPADFAPEDYSSFQ
  HIRKGGFCDQYLAVPQHPYQWAKPKPLSPTSYMSPTLPALDWQLPSHSGPYELRIEVQPKSHHRAHYETEGSRGA
  VKASAGGHPIVQLHGYLENEPLMLQLFIGTADDRLLRPHAFYQVHRITGKTVSTTSHEAILSNTKVLEIPLLPEN
  SMRAVIDCAGILKLRNSDIELRKGETDIGRKNTRVRLVFRVHVPQPSGRTLSLQVASNPIECSQRSAQELPLVEK
  QSTDSYPVVGGKKMVLSGHNFLQDSKVIFVEKAPDGHHVWEMEAKTDRDLCKPNSLVVEIPPFRNQRITSPVHVS
  FYVCNGKRKRSQYQRFTYLPANVPIIKTEPTDDYEPAPTCGPVSQGLSPLPRPYYSQQLAMPPDPSSCLVAGFPP
  CPQRSTLMPAAPGVSPKLHDLSPAAYTKGVASPGHCHLGLPQPAGEAPAVQDVPRPVATHPGSPGQPPPALLPQQ
  VSAPPSSSCPPGLEHSLCPSSPSPPLPPATQEPTCLQPCSPACPPATGRPQHLPSTVRRDESPTAGPRLLPEVHE
  DGSPNLAPIPVTVKREPEELDQLYLDDVNEIIRNDLSSTSTHS

• Structural information:
  • Protein Domains: (410..59-)
    (/note="RHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00265"-)
  • Interpro: IPR013783  IPR014756  IPR002909  IPR008366  IPR015647   IPR008967  IPR032397  IPR011539  IPR037059  
  • Prosite: PS50254
  • PDB: 1A66 1NFA 5SVE
  • PDBsum: 1A66 1NFA 5SVE
  • DIP: 44311
  • STRING: ENSP00000389377
• Other Databases: GeneCards:  NFATC1  Malacards:  NFATC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	ISS	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001816	cytokine production	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0033173	calcineurin-NFAT signaling cascade	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005528	FK506 binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001225	RNA polymerase II transcription coactivator binding	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:1905064	negative regulation of vascular smooth muscle cell differentiation	IDA	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0048273	mitogen-activated protein kinase p38 binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0033173	calcineurin-NFAT signaling cascade	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04921	Oxytocin signaling pathway
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa05135	Yersinia infection
hsa04650	Natural killer cell mediated cytotoxicity
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04659	Th17 cell differentiation
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray