Q60591
PR
Gene name |
Nfatc2 (Nfat1, Nfatp) |
Protein name |
Nuclear factor of activated T-cells, cytoplasmic 2 |
Names |
NF-ATc2, NFATc2, NFAT pre-existing subunit, NF-ATp, T-cell transcription factor NFAT1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:18019 |
EC number |
|
Protein Class |
|
Descriptions
(Annotation based on sequence homology with O88942)
NFAT1 plays a role in the inducible expression of cytokine genes in T-cells. NFAT transcription factors are highly phosphorylated proteins that are regulated by the calcium-dependent phosphatase calcineurin. NFAT1 is phosphorylated on fourteen conserved phosphoserine residues in its regulatory domain (100-400), thirteen of which are dephosphorylated upon stimulation. Dephosphorylation of all thirteen residues is required to mask a nuclear export signal (NES), causes full exposure of a nuclear localization signal (NLS), and promotes transcriptional activity. Mutations in the serine-rich region (SRR-1, specifically 170-183) enhances the localization of NFAT1 to the nucleus, while the full-length NFAT1 does not move into the nucleus. This represents that the SRR-1 region inhibits the translocation of NFAT1 to the nucleus. In addition, SRR-1 region also regulates the active conformation of NFAT1.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q60591
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q60591-F1 | Predicted | AlphaFoldDB |
42 variants for Q60591
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3392595791 | 9 | D>G | No | EVA | |
| rs581318534 | 15 | G>C | No | EVA | |
| rs3392569742 | 77 | S>R | No | EVA | |
| rs3392630948 | 79 | S>A | No | EVA | |
| rs3392448201 | 81 | E>K | No | EVA | |
| rs3392448148 | 83 | P>H | No | EVA | |
| rs3392227909 | 138 | E>A | No | EVA | |
| rs27288999 | 228 | L>F | No | EVA | |
| rs259322485 | 271 | P>L | No | EVA | |
| rs27289000 | 287 | L>P | No | EVA | |
| rs228374292 | 291 | S>G | No | EVA | |
| rs261991611 | 300 | A>S | No | EVA | |
| rs3388612803 | 403 | L>I | No | EVA | |
| rs3388612328 | 404 | S>P | No | EVA | |
| rs3388612838 | 405 | N>K | No | EVA | |
| rs3388618665 | 417 | Q>* | No | EVA | |
| rs3388614973 | 455 | P>H | No | EVA | |
| rs3388612720 | 484 | K>N | No | EVA | |
| rs3388619259 | 489 | T>* | No | EVA | |
| rs3388612277 | 491 | Y>* | No | EVA | |
| rs3388615834 | 492 | E>G | No | EVA | |
| rs3388618641 | 493 | K>M | No | EVA | |
| rs3388612764 | 498 | T>I | No | EVA | |
| rs249063674 | 577 | H>Q | No | EVA | |
| rs3392369040 | 588 | D>G | No | EVA | |
| rs3392595019 | 596 | Q>P | No | EVA | |
| rs3392378376 | 598 | M>T | No | EVA | |
| rs3388608455 | 606 | T>R | No | EVA | |
| rs3388608436 | 614 | M>V | No | EVA | |
| rs3388612324 | 628 | A>P | No | EVA | |
| rs3388619268 | 629 | T>M | No | EVA | |
| rs3388612772 | 656 | V>E | No | EVA | |
| rs3388608462 | 704 | L>M | No | EVA | |
| rs3388612836 | 719 | S>P | No | EVA | |
| rs27311546 | 728 | A>T | No | EVA | |
| rs3412659300 | 780 | A>P | No | EVA | |
| rs3388616086 | 790 | A>T | No | EVA | |
| rs3388616574 | 808 | S>R | No | EVA | |
| rs3388617344 | 819 | P>L | No | EVA | |
| rs27311549 | 889 | A>T | No | EVA | |
| rs3388619227 | 892 | T>M | No | EVA | |
| rs3388615924 | 898 | Q>H | No | EVA |
No associated diseases with Q60591
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| transcription factor AP-1 complex | A heterodimeric transcription factor complex composed of proteins from the c-Fos, c-Jun, activating transcription factor (ATF) or JDP families. The subunits contain a basic leucine zipper (bZIP) domain that is essential for dimerization and DNA binding. Jun-Fos heterodimers bind preferentially to a heptamer consensus sequence (TPA responsive element (TRE)), whereas Jun-ATF dimers bind the cyclic AMP responsive element (CRE) to regulate transcription of target genes. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| phosphatase binding | Binding to a phosphatase. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| calcineurin-NFAT signaling cascade | Any intracellular signal transduction in which the signal is passed on within the cell by activation of a member of the NFAT protein family as a consequence of NFAT dephosphorylation by Ca(2+)-activated calcineurin. The cascade begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin dephosphorylates multiple phosphoserine residues on NFAT, resulting in the translocation of NFAT to the nucleus. The cascade ends with regulation of transcription by NFAT. The calcineurin-NFAT cascade lies downstream of many cell surface receptors, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) that signal to mobilize calcium ions (Ca2+). |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| myotube cell development | The process aimed at the progression of a myotube cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. |
| ncRNA transcription | The transcription of non (protein) coding RNA from a DNA template. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of vascular associated smooth muscle cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation. |
| positive regulation of B cell proliferation | Any process that activates or increases the rate or extent of B cell proliferation. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of myoblast fusion | Any process that activates or increases the frequency, rate or extent of myoblast fusion. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q14934 | NFATC4 | Nuclear factor of activated T-cells, cytoplasmic 4 | Homo sapiens (Human) | PR |
| O95644 | NFATC1 | Nuclear factor of activated T-cells, cytoplasmic 1 | Homo sapiens (Human) | SS |
| Q8K120 | Nfatc4 | Nuclear factor of activated T-cells, cytoplasmic 4 | Mus musculus (Mouse) | PR |
| P97305 | Nfatc3 | Nuclear factor of activated T-cells, cytoplasmic 3 | Mus musculus (Mouse) | SS |
| O88942 | Nfatc1 | Nuclear factor of activated T-cells, cytoplasmic 1 | Mus musculus (Mouse) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVPEPQPDP | DGGDGPGHEP | GGSPQDELDF | SILFDYDYLN | PIEEEPIAHK | AISSPSGLAY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PDDVLDYGLK | PCNPLASLSG | EPPGRFGEPD | SIGFQNFLSP | VKPAGASGPS | PRIEITPSHE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LMQAGGALRG | RDAGLSPEQP | ALALAGVAAS | PRFTLPVPGY | EGYREPLCLS | PASSGSSASF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISDTFSPYTS | PCVSPNNAGP | DDLCPQFQNI | PAHYSPRTSP | IMSPRTSLAE | DSCLGRHSPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PRPASRSSSP | GAKRRHSCAE | ALVAPLPAAS | PQRSRSPSPQ | PSPHVALQDD | SIPAGYPPTA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSAVLMDALN | TLATDSPCGI | PSKIWKTSPD | PTPVSTAPSK | AGLARHIYPT | VEFLGPCEQE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERRNSAPESI | LLVPPTWPKQ | LVPAIPICSI | PVTASLPPLE | WPLSNQSGSY | ELRIEVQPKP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HHRAHYETEG | SRGAVKAPTG | GHPVVQLHGY | MENKPLGLQI | FIGTADERIL | KPHAFYQVHR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITGKTVTTTS | YEKIVGNTKV | LEIPLEPKNN | MRATIDCAGI | LKLRNADIEL | RKGETDIGRK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NTRVRLVFRV | HVPEPSGRIV | SLQAASNPIE | CSQRSAHELP | MVERQDMDSC | LVYGGQQMIL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGQNFTAESK | VVFMEKTTDG | QQIWEMEATV | DKDKSQPNML | FVEIPEYRNK | HIRVPVKVNF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YVINGKRKRS | QPQHFTYHPV | PAIKTEPSDE | YEPSLICSPA | HGGLGSQPYY | PQHPMLAESP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SCLVATMAPC | QQFRSGLSSP | DARYQQQSPA | AALYQRSKSL | SPGLLGYQQP | SLLAAPLGLA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DAHRSVLVHA | GSQGQGQGST | LPHTSSASQQ | ASPVIHYSPT | NQQLRGGGHQ | EFQHIMYCEN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FGPSSARPGP | PPINQGQRLS | PGAYPTVIQQ | QTAPSQRAAK | NGPSDQKEAL | PTGVTVKQEQ |
| 910 | 920 | ||||
| NLDQTYLDDV | NEIIRKEFSG | PPSRNQT |