Protein:NFAT5 |
Protein Summary |
Gene summary |
| Gene name: NFAT5 | ASpdb.0 ID: 10725 | Gene | Gene symbol | NFAT5 | Gene ID | 10725 |
| Gene name | nuclear factor of activated T cells 5 |
| Synonyms | NF-AT5|NFATL1|NFATZ|OREBP|TONEBP |
| Cytomap | 16q22.1 |
| Type of gene | protein-coding |
| Description | nuclear factor of activated T-cells 5NFAT-like protein 1T-cell transcription factor NFAT5TonE-binding proteinglutamine rich protein H65nuclear factor of activated T-cells 5, tonicity-responsiveosmotic response element-binding proteintonicity-respon |
| Modification date | 20240407 |
| UniProtAcc | O94916 |
Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | NFAT5 | GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | 11485737|11780147 |
| Gene | NFAT5 | GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | 11485737 |
| Gene | NFAT5 | GO:0003682 | chromatin binding | 34049076 |
| Gene | NFAT5 | GO:0005634 | nucleus | 12370307 |
| Gene | NFAT5 | GO:0005654 | nucleoplasm | - |
| Gene | NFAT5 | GO:0005829 | cytosol | - |
| Gene | NFAT5 | GO:0006974 | DNA damage response | 34049076 |
| Gene | NFAT5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11485737 |
| Gene | NFAT5 | GO:0062176 | R-loop processing | 34049076 |
| Gene | NFAT5 | GO:1990837 | sequence-specific double-stranded DNA binding | 28473536 |
AS Summary |
Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| O94916-1 | O94916-1_1imh_C.pdb | 1IMH | X-ray | 2.86 | C | 264 | 544 |
ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| O94916 | NFAT5 | O94916-1 | O94916-3 | 1531 | 99 | 24 | 24 | Substitution | R | RDSLKLHPSQNFHRAGLLE | 24 | 42 |
| O94916 | NFAT5 | O94916-1 | O94916-3 | 1531 | 99 | 67 | 81 | Substitution | DASSAPSSSSMGGAC | GFASEAGSVCIKNDL | 85 | 99 |
| O94916 | NFAT5 | O94916-1 | O94916-3 | 1531 | 99 | 82 | 1531 | Deletion | none | none | 99 | 99 |
Multiple sequence alignment of our canonical and alternatively spliced NFAT5 |
Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of NFAT5 |
| UniProt-id | ENSG | ENST | ENSP |
| O94916-1 | ENSG00000102908.23 | ENST00000354436.6 | ENSP00000346420.2 |
| O94916-3 | ENSG00000102908.23 | ENST00000426654.6 | ENSP00000413126.2 |
| UniProt-id | NM ID | NP ID |
| O94916-1 | NM_006599.3 | NP_006590.1 |
Amino acid sequences of our canonical and alternatively spliced NFAT5 |
| accession_id | Protein sequence |
| O94916-1 | MPSDFISLLSADLDLESPKSLYSRESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSSSMGGACSSFTTSSSP TIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSP SNFSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLC GQYPVKSEGKELKIVVQPETQHRARYLTEGSRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEV DIEGTTVIEVGLDPSNNMTLAVDCVGILKLRNADVEARIGIAGSKKKSTRARLVFRVNIMRKDGSTLTLQTPSSPILCTQPAGVPEILKK SLHSCSVKGEEEVFLIGKNFLKGTKVIFQENVSDENSWKSEAEIDMELFHQNHLIVKVPPYHDQHITLPVSVGIYVVTNAGRSHDVQPFT YTPDPAAAGALNVNVKKEISSPARPCSFEEAMKAMKTTGCNLDKVNIIPNALMTPLIPSSMIKSEDVTPMEVTAEKRSSTIFKTTKSVGS TQQTLENISNIAGNGSFSSPSSSHLPSENEKQQQIQPKAYNPETLTTIQTQDISQPGTFPAVSASSQLPNSDALLQQATQFQTRETQSRE ILQSDGTVVNLSQLTEASQQQQQSPLQEQAQTLQQQISSNIFPSPNSVSQLQNTIQQLQAGSFTGSTASGSSGSVDLVQQVLEAQQQLSS VLFSAPDGNENVQEQLSADIFQQVSQIQSGVSPGMFSSTEPTVHTRPDNLLPGRAESVHPQSENTLSNQQQQQQQQQQVMESSAAMVMEM QQSICQAAAQIQSELFPSTASANGNLQQSPVYQQTSHMMSALSTNEDMQMQCELFSSPPAVSGNETSTTTTQQVATPGTTMFQTSSSGDG EETGTQAKQIQNSVFQTMVQMQHSGDNQPQVNLFSSTKSMMSVQNSGTQQQGNGLFQQGNEMMSLQSGNFLQQSSHSQAQLFHPQNPIAD AQNLSQETQGSLFHSPNPIVHSQTSTTSSEQMQPPMFHSQSTIAVLQGSSVPQDQQSTNIFLSQSPMNNLQTNTVAQEAFFAAPNSISPL QSTSNSEQQAAFQQQAPISHIQTPMLSQEQAQPPQQGLFQPQVALGSLPPNPMPQSQQGTMFQSQHSIVAMQSNSPSQEQQQQQQQQQQQ QQQQQQSILFSNQNTMATMASPKQPPPNMIFNPNQNPMANQEQQNQSIFHQQSNMAPMNQEQQPMQFQSQSTVSSLQNPGPTQSESSQTP LFHSSPQIQLVQGSPSSQEQQVTLFLSPASMSALQTSINQQDMQQSPLYSPQNNMPGIQGATSSPQPQATLFHNTAGGTMNQLQNSPGSS QQTSGMFLFGIQNNCSQLLTSGPATLPDQLMAISQPGQPQNEGQPPVTTLLSQQMPENSPLASSINTNQNIEKIDLLVSLQNQGNNLTGS |
| O94916-3 | MPSDFISLLSADLDLESPKSLYSRDSLKLHPSQNFHRAGLLEESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAAGFASEA |
Protein Functional Features |
Main function of this protein. (from UniProt) |
| NFAT5 (go to UniProt):O94916 |
Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| O94916 | Domain | 264 | 443 | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 | Type=Deletion;Start=82;End=1531 |
| O94916 | DNA binding | 293 | 300 | Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:10377394;Dbxref=PMID:10377394 | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 34 | 89 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=67;End=81 |
| O94916 | Region | 34 | 89 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 114 | 141 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 175 | 220 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 241 | 265 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 640 | 666 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 841 | 891 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 958 | 996 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 1211 | 1304 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 1316 | 1371 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Region | 1473 | 1502 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 68 | 89 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=67;End=81 |
| O94916 | Compositional bias | 68 | 89 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 114 | 138 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 175 | 195 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 241 | 261 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 841 | 855 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 868 | 891 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
| O94916 | Compositional bias | 1219 | 1282 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Deletion;Start=82;End=1531 |
Gene Isoform Structures and Expression Levels for NFAT5 |
Gene structures of our canonical and alternative spliced genes of NFAT5* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Expression levels of gene isoforms across GTEx. |
Expression levels of gene isoforms across TCGA. |
Protein Structures |
PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of O94916-1 |
| 3D view using mol* of O94916-3 |
pLDDT Score Distribution |
pLDDT score distribution of the predicted protein structures from AlphaFold2* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of O94916-1 |
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| pLDDT distribution across the protein length of O94916-3 |
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Ramachandran Plot of Protein Structures |
Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of O94916-1 |
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Potential Active Site Information |
The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| O94916-1 | 0.815 | 58 | 0.825 | 194.824 | 0.691 | 0.611 | 0.74 | 0.497 | 0.789 | 0.63 | 1.053 | 269,270,333,334,340,341,342,343,363,364,365,398,39 9,403,406,408 |
| O94916-3 | 0.506 | 15 | 0.44 | 70.315 | 0.786 | 0.562 | 0.695 | 0.3 | 0.801 | 0.375 | 5.492 | 11,12,13,20,21,26
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Protein Structure and Feature Comparision |
Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of O94916-1_O94916-1_1imh_C.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of O94916-1_1imh_C_O94916-3.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of O94916-1_O94916-3.pdb |
Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/O94916-1_vs_O94916-3.png |
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Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/O94916-1_vs_O94916-3.png |
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Protein-Protein Interaction |
Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to NFAT5 |
Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to NFAT5 |
Previous studies relating to the alternative splicing of NFAT5 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| NFAT5 | 11072102 | Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain. | To investigate sequences or mutations associated with neurodegenerative disorders, we performed analyses for the NFAT5 gene, which is located in the candidate region for the autosomal dominantly inherited spinocerebellar ataxia type 4 (SCA4). PCR based expression analyses detected NFAT5 transcripts with alternative splicing in 27 fetal and adult human tissues. Interestingly, by using quantitative methods on cDNA from fetal and adult human brain a significant difference at the expression level for one splice form could be shown. | D020754 | Spinocerebellar Ataxias |
Clinically important variants in NFAT5 |
(ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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