Protein:AQP4 |
Protein Summary |
 Gene summary |
| Gene name: AQP4 | ASpdb.0 ID: 361 | Gene | Gene symbol | AQP4 | Gene ID | 361 |
| Gene name | aquaporin 4 |
| Synonyms | MIWC|MLC4|WCH4|hAQP4 |
| Cytomap | 18q11.2 |
| Type of gene | protein-coding |
| Description | aquaporin-4aquaporin type4mercurial-insensitive water channel |
| Modification date | 20240416 |
| UniProtAcc | P55087 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | AQP4 | GO:0005737 | cytoplasm | 18392839 |
| Gene | AQP4 | GO:0005886 | plasma membrane | 8601457|16814974|37143309 |
| Gene | AQP4 | GO:0006833 | water transport | 8601457|19383790 |
| Gene | AQP4 | GO:0009897 | external side of plasma membrane | 17645239 |
| Gene | AQP4 | GO:0015250 | water channel activity | 8601457|19383790 |
| Gene | AQP4 | GO:0042383 | sarcolemma | 29055082 |
| Gene | AQP4 | GO:0051289 | protein homotetramerization | 19383790 |
| Gene | AQP4 | GO:0071346 | cellular response to type II interferon | 17645239 |
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 |
| P55087-1 | P55087-1_3gd8_A.pdb | 3GD8 | X-ray | 1.8 | A | 32 | 254 |
| 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 |
| P55087 | AQP4 | P55087-1 | P55087-2 | 323 | 301 | 1 | 22 | Deletion | none | none | 0 | 0 |
| Multiple sequence alignment of our canonical and alternatively spliced AQP4 |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of AQP4 |
| UniProt-id | ENSG | ENST | ENSP |
| P55087-1 | ENSG00000171885.18 | ENST00000383168.9 | ENSP00000372654.4 |
| P55087-1 | ENSG00000171885.18 | ENST00000672188.1 | ENSP00000500720.1 |
| P55087-2 | ENSG00000171885.18 | ENST00000440832.7 | ENSP00000393121.3 |
| P55087-2 | ENSG00000171885.18 | ENST00000581374.5 | ENSP00000462597.1 |
| UniProt-id | NM ID | NP ID |
| P55087-1 | NM_001650.5 | NP_001641.1 |
| P55087-2 | NM_004028.4 | NP_004019.1 |
| Amino acid sequences of our canonical and alternatively spliced AQP4 |
| accession_id | Protein sequence |
| P55087-1 | MSDRPTARRWGKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQCFGH ISGGHINPAVTVAMVCTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFASCDS KRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFSKAA |
| P55087-2 | MVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQCFGHISGGHINPAVTVAMVCTRKISI AKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFASCDSKRTDVTGSIALAIGFSVAIGHL FAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFSKAAQQTKGSYMEVEDNRSQVETDDL |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| AQP4 (go to UniProt):P55087 |
| 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 |
| P55087 | Topological domain | 1 | 36 | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19383790;Dbxref=PMID:19383790 | Type=Deletion;Start=1;End=22 |
Gene Isoform Structures and Expression Levels for AQP4 |
| Gene structures of our canonical and alternative spliced genes of AQP4 * 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 P55087-1 |
| 3D view using mol* of P55087-2 |
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 P55087-1 |
 |
| pLDDT distribution across the protein length of P55087-2 |
 |
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 P55087-1 |
 |
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 |
| P55087-1 | 1.014 | 119 | 1.048 | 332.024 | 0.621 | 0.69 | 0.862 | 0.521 | 0.939 | 0.554 | 1.161 | 54,55,56,57,58,59,62,66,67,68,69,72,73,77,141,142, 143,144,145,146,147,148,149,201,205,209,210,216,22 6 |
| P55087-2 | 1.004 | 142 | 1.04 | 360.15 | 0.581 | 0.673 | 0.877 | 0.54 | 0.933 | 0.579 | 1.269 | 33,34,35,36,37,39,40,43,44,45,46,47,50,51,55,118,1 19,120,121,122,123,124,125,126,127,129,179,183,187 ,194,202,204 |
Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
 |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P55087-1_P55087-1_3gd8_A.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P55087-1_3gd8_A_P55087-2.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P55087-1_P55087-2.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P55087-1_vs_P55087-2.png |
 < |
| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P55087-1_vs_P55087-2.png |
 < |
Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to AQP4 |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to AQP4 |
| Previous studies relating to the alternative splicing of AQP4 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| AQP4 | 21689527 | Model of aquaporin-4 supramolecular assembly in orthogonal arrays based on heterotetrameric association of M1-M23 isoforms. | Tetramers of aquaporin-4 (AQP4) water channels form supramolecular assemblies in cell membranes called orthogonal arrays of particles (OAPs). We previously reported evidence that a short (M23) AQP4 isoform produced by alternative splicing forms OAPs by an intermolecular N-terminus interaction, whereas the full-length (M1) AQP4 isoform does not by itself form OAPs but can coassemble with M23 in OAPs as heterotetramers. Here, we developed a model to predict number distributions of OAP size, shape, and composition as a function M23:M1 molar ratio. Model specifications included: random tetrameric assembly of M1 with M23; intertetramer associations between M23 and M23, but not between M1 and M23 or M1; and a free energy constraint limiting OAP size. Model predictions were tested by total internal reflection fluorescence microscopy of AQP4-green-fluorescent protein chimeras and native gel electrophoresis of cells expressing different M23:M1 ratios. Experimentally validated model predictions included: 1), greatly increased OAP size with increasing M23:M1 ratio; 2), marked heterogeneity in OAP size at fixed M23:M1, with increased M23 fraction in larger OAPs; and 3), preferential M1 localization at the periphery of OAPs. The model was also applied to test predictions about binding to AQP4 OAPs of a pathogenic AQP4 autoantibody found in the neuroinflammatory demyelinating disease neuromyelitis optica. Our model of AQP4 OAPs links a molecular-level interaction of AQP4 with its supramolecular assembly in cell membranes. | D009471 | Neuromyelitis Optica |
Clinically important variants in AQP4 |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
Copyright 2024-PresentThe University of Texas Health Science Center at Houston (UTHealth Houston) Web File Viewing | Emergency Information |