KCNH1_HUMAN
Evidence for PS localization
Functions
Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed). Channel properties are modulated by subunit assembly (PubMed). Mediates IK(NI) current in myoblasts (PubMed). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed). [View more on UniProt]
Protein features
Binary interactions with known binding regions
To display all evidence describing the interaction with a partner, click on the protein name left to the bars.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 217 | Lys | Asn | Temple-Baraitsersyndrome(TMBTS) | - |
| 489 | Leu | Phe | Temple-Baraitsersyndrome(TMBTS) | - |
| 494 | Ile | Val | Temple-Baraitsersyndrome(TMBTS) | - |
| 494 | Ile | Val | Zimmermann-Labandsyndrome1(ZLS1) | - |
| 503 | Gln | Arg | Temple-Baraitsersyndrome(TMBTS) | - |
| 352 | Ser | Tyr | Zimmermann-Labandsyndrome1(ZLS1) | - |
| 375 | Gly | Arg | Zimmermann-Labandsyndrome1(ZLS1) | - |
| 379 | Leu | Val | Zimmermann-Labandsyndrome1(ZLS1) | - |
| 383 | Val | Leu | Zimmermann-Labandsyndrome1(ZLS1) | - |
| 496 | Gly | Arg | Zimmermann-Labandsyndrome1(ZLS1) | - |
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in KCNH1_HUMAN |
|---|---|---|---|---|
| GO:0019900 | kinase binding | 33.3333 | 4 | no |
| GO:0019901 | protein kinase binding | 33.3333 | 5 | no |
| GO:0043169 | cation binding | 33.3333 | 4 | no |
| GO:0046872 | metal ion binding | 33.3333 | 5 | no |
| GO:0005216 | monoatomic ion channel activity | 33.3333 | 4 | yes |
| GO:0005244 | voltage-gated monoatomic ion channel activity | 33.3333 | 5 | yes |
| GO:0005249 | voltage-gated potassium channel activity | 33.3333 | 7 | yes |
| GO:0005251 | delayed rectifier potassium channel activity | 33.3333 | 8 | yes |
| GO:0005261 | monoatomic cation channel activity | 33.3333 | 5 | yes |
| GO:0005267 | potassium channel activity | 33.3333 | 6 | yes |
| GO:0008324 | monoatomic cation transmembrane transporter activity | 33.3333 | 4 | yes |
| GO:0015079 | potassium ion transmembrane transporter activity | 33.3333 | 6 | yes |
| GO:0015267 | channel activity | 33.3333 | 4 | yes |
| GO:0022832 | voltage-gated channel activity | 33.3333 | 6 | yes |
| GO:0022836 | gated channel activity | 33.3333 | 5 | yes |
| GO:0022843 | voltage-gated monoatomic cation channel activity | 33.3333 | 6 | yes |
| GO:0022890 | inorganic cation transmembrane transporter activity | 33.3333 | 4 | yes |
| GO:0046873 | metal ion transmembrane transporter activity | 33.3333 | 5 | yes |
| GO:0010856 | adenylate cyclase activator activity | 25.0000 | 5 | no |
| GO:0019209 | kinase activator activity | 25.0000 | 4 | no |
| GO:0019211 | phosphatase activator activity | 25.0000 | 4 | no |
| GO:0019887 | protein kinase regulator activity | 25.0000 | 4 | no |
| GO:0019888 | protein phosphatase regulator activity | 25.0000 | 4 | no |
| GO:0030295 | protein kinase activator activity | 25.0000 | 5 | no |
| GO:0031432 | titin binding | 25.0000 | 4 | no |
| GO:0043539 | protein serine/threonine kinase activator activity | 25.0000 | 6 | no |
| GO:0072542 | protein phosphatase activator activity | 25.0000 | 5 | no |
| GO:0035091 | phosphatidylinositol binding | 25.0000 | 4 | yes |
| GO:1901981 | phosphatidylinositol phosphate binding | 25.0000 | 5 | yes |
| GO:1902936 | phosphatidylinositol bisphosphate binding | 25.0000 | 6 | yes |
| GO:0005509 | calcium ion binding | 25.0000 | 6 | no |
| GO:0010853 | cyclase activator activity | 25.0000 | 4 | no |
| GO:0010854 | adenylate cyclase regulator activity | 25.0000 | 4 | no |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in KCNH1_HUMAN |
|---|---|---|---|---|
| GO:0010038 | response to metal ion | 66.6667 | 4 | yes |
| GO:0048522 | positive regulation of cellular process | 66.6667 | 4 | no |
| GO:0051049 | regulation of transport | 66.6667 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 66.6667 | 4 | no |
| GO:0051050 | positive regulation of transport | 58.3333 | 4 | no |
| GO:0009892 | negative regulation of metabolic process | 58.3333 | 4 | no |
| GO:0010605 | negative regulation of macromolecule metabolic process | 58.3333 | 5 | no |
| GO:0010646 | regulation of cell communication | 58.3333 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 58.3333 | 4 | no |
| GO:0031324 | negative regulation of cellular metabolic process | 58.3333 | 5 | no |
| GO:0051051 | negative regulation of transport | 58.3333 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 58.3333 | 4 | no |
| GO:0080090 | regulation of primary metabolic process | 58.3333 | 4 | no |
| GO:1902531 | regulation of intracellular signal transduction | 50.0000 | 5 | no |
| GO:0051592 | response to calcium ion | 50.0000 | 5 | yes |
| GO:0009893 | positive regulation of metabolic process | 50.0000 | 4 | no |
| GO:0009966 | regulation of signal transduction | 50.0000 | 4 | no |
| GO:0031325 | positive regulation of cellular metabolic process | 50.0000 | 5 | no |
| GO:0008104 | protein localization | 41.6667 | 4 | no |
| GO:0034762 | regulation of transmembrane transport | 41.6667 | 4 | no |
| GO:0034765 | regulation of monoatomic ion transmembrane transport | 41.6667 | 5 | no |
| GO:0043269 | regulation of monoatomic ion transport | 41.6667 | 5 | no |
| GO:0019220 | regulation of phosphate metabolic process | 41.6667 | 6 | no |
| GO:0042325 | regulation of phosphorylation | 41.6667 | 7 | no |
| GO:0051174 | regulation of phosphorus metabolic process | 41.6667 | 5 | no |
| GO:0141124 | intracellular signaling cassette | 41.6667 | 4 | no |
| GO:0006355 | regulation of DNA-templated transcription | 33.3333 | 7 | no |
| GO:0009889 | regulation of biosynthetic process | 33.3333 | 4 | no |
| GO:0009890 | negative regulation of biosynthetic process | 33.3333 | 5 | no |
| GO:0010468 | regulation of gene expression | 33.3333 | 6 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 33.3333 | 5 | no |
| GO:0010558 | negative regulation of macromolecule biosynthetic process | 33.3333 | 6 | no |
| GO:0019219 | regulation of nucleobase-containing compound metabolic process | 33.3333 | 5 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 33.3333 | 5 | no |
| GO:0031327 | negative regulation of cellular biosynthetic process | 33.3333 | 6 | no |
| GO:0045892 | negative regulation of DNA-templated transcription | 33.3333 | 8 | no |
| GO:0045934 | negative regulation of nucleobase-containing compound metabolic process | 33.3333 | 5 | no |
| GO:0051252 | regulation of RNA metabolic process | 33.3333 | 5 | no |
| GO:0051253 | negative regulation of RNA metabolic process | 33.3333 | 6 | no |
| GO:1902679 | negative regulation of RNA biosynthetic process | 33.3333 | 7 | no |
| GO:2001141 | regulation of RNA biosynthetic process | 33.3333 | 6 | no |
| GO:0006811 | monoatomic ion transport | 33.3333 | 4 | yes |
| GO:0006812 | monoatomic cation transport | 33.3333 | 5 | yes |
| GO:0006813 | potassium ion transport | 33.3333 | 7 | yes |
| GO:0030001 | metal ion transport | 33.3333 | 6 | yes |
| GO:0071241 | cellular response to inorganic substance | 33.3333 | 4 | yes |
| GO:0071248 | cellular response to metal ion | 33.3333 | 5 | yes |
| GO:0071805 | potassium ion transmembrane transport | 33.3333 | 5 | yes |
| GO:0098655 | monoatomic cation transmembrane transport | 33.3333 | 4 | yes |
| GO:0098662 | inorganic cation transmembrane transport | 33.3333 | 4 | yes |
| GO:0010959 | regulation of metal ion transport | 33.3333 | 6 | no |
| GO:0022607 | cellular component assembly | 33.3333 | 4 | no |
| GO:0034764 | positive regulation of transmembrane transport | 33.3333 | 5 | no |
| GO:0034767 | positive regulation of monoatomic ion transmembrane transport | 33.3333 | 6 | no |
| GO:0043270 | positive regulation of monoatomic ion transport | 33.3333 | 5 | no |
| GO:1904062 | regulation of monoatomic cation transmembrane transport | 33.3333 | 6 | no |
| GO:1904064 | positive regulation of cation transmembrane transport | 33.3333 | 7 | no |
| GO:0001932 | regulation of protein phosphorylation | 33.3333 | 7 | no |
| GO:0001933 | negative regulation of protein phosphorylation | 33.3333 | 8 | no |
| GO:0009967 | positive regulation of signal transduction | 33.3333 | 5 | no |
| GO:0010562 | positive regulation of phosphorus metabolic process | 33.3333 | 6 | no |
| GO:0010563 | negative regulation of phosphorus metabolic process | 33.3333 | 6 | no |
| GO:0010604 | positive regulation of macromolecule metabolic process | 33.3333 | 5 | no |
| GO:0010647 | positive regulation of cell communication | 33.3333 | 5 | no |
| GO:0021762 | substantia nigra development | 33.3333 | 4 | no |
| GO:0023056 | positive regulation of signaling | 33.3333 | 4 | no |
| GO:0031399 | regulation of protein modification process | 33.3333 | 6 | no |
| GO:0031400 | negative regulation of protein modification process | 33.3333 | 7 | no |
| GO:0031401 | positive regulation of protein modification process | 33.3333 | 7 | no |
| GO:0034763 | negative regulation of transmembrane transport | 33.3333 | 5 | no |
| GO:0034766 | negative regulation of monoatomic ion transmembrane transport | 33.3333 | 6 | no |
| GO:0042326 | negative regulation of phosphorylation | 33.3333 | 8 | no |
| GO:0042327 | positive regulation of phosphorylation | 33.3333 | 8 | no |
| GO:0043271 | negative regulation of monoatomic ion transport | 33.3333 | 5 | no |
| GO:0043549 | regulation of kinase activity | 33.3333 | 5 | no |
| GO:0045936 | negative regulation of phosphate metabolic process | 33.3333 | 7 | no |
| GO:0045937 | positive regulation of phosphate metabolic process | 33.3333 | 7 | no |
| GO:0048584 | positive regulation of response to stimulus | 33.3333 | 4 | no |
| GO:0051246 | regulation of protein metabolic process | 33.3333 | 5 | no |
| GO:0051247 | positive regulation of protein metabolic process | 33.3333 | 6 | no |
| GO:0051248 | negative regulation of protein metabolic process | 33.3333 | 6 | no |
| GO:0051338 | regulation of transferase activity | 33.3333 | 4 | no |
| GO:0051726 | regulation of cell cycle | 33.3333 | 4 | no |
| GO:1903169 | regulation of calcium ion transmembrane transport | 25.0000 | 7 | no |
| GO:1903170 | negative regulation of calcium ion transmembrane transport | 25.0000 | 7 | no |
| GO:1903522 | regulation of blood circulation | 25.0000 | 5 | no |
| GO:1904063 | negative regulation of cation transmembrane transport | 25.0000 | 7 | no |
| GO:1904427 | positive regulation of calcium ion transmembrane transport | 25.0000 | 7 | no |
| GO:1905912 | regulation of calcium ion export across plasma membrane | 25.0000 | 8 | no |
| GO:1905913 | negative regulation of calcium ion export across plasma membrane | 25.0000 | 8 | no |
| GO:2001257 | regulation of cation channel activity | 25.0000 | 6 | no |
| GO:2001258 | negative regulation of cation channel activity | 25.0000 | 6 | no |
| GO:2001259 | positive regulation of cation channel activity | 25.0000 | 6 | no |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | 25.0000 | 9 | no |
| GO:0006357 | regulation of transcription by RNA polymerase II | 25.0000 | 8 | no |
| GO:0017157 | regulation of exocytosis | 25.0000 | 5 | no |
| GO:0051046 | regulation of secretion | 25.0000 | 5 | no |
| GO:0051094 | positive regulation of developmental process | 25.0000 | 4 | no |
| GO:0060627 | regulation of vesicle-mediated transport | 25.0000 | 4 | no |
| GO:0072657 | protein localization to membrane | 25.0000 | 4 | no |
| GO:1902533 | positive regulation of intracellular signal transduction | 25.0000 | 6 | no |
| GO:1903530 | regulation of secretion by cell | 25.0000 | 4 | no |
| GO:0042981 | regulation of apoptotic process | 25.0000 | 5 | no |
| GO:0043067 | regulation of programmed cell death | 25.0000 | 4 | no |
| GO:0042127 | regulation of cell population proliferation | 25.0000 | 4 | yes |
| GO:0071277 | cellular response to calcium ion | 25.0000 | 6 | yes |
| GO:0010243 | response to organonitrogen compound | 25.0000 | 4 | no |
| GO:0043933 | protein-containing complex organization | 25.0000 | 4 | no |
| GO:0065003 | protein-containing complex assembly | 25.0000 | 5 | no |
| GO:0000086 | G2/M transition of mitotic cell cycle | 25.0000 | 5 | no |
| GO:0001934 | positive regulation of protein phosphorylation | 25.0000 | 8 | no |
| GO:0005513 | detection of calcium ion | 25.0000 | 4 | no |
| GO:0006937 | regulation of muscle contraction | 25.0000 | 6 | no |
| GO:0006942 | regulation of striated muscle contraction | 25.0000 | 7 | no |
| GO:0008016 | regulation of heart contraction | 25.0000 | 6 | no |
| GO:0010564 | regulation of cell cycle process | 25.0000 | 5 | no |
| GO:0010649 | regulation of cell communication by electrical coupling | 25.0000 | 5 | no |
| GO:0010799 | regulation of peptidyl-threonine phosphorylation | 25.0000 | 8 | no |
| GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 25.0000 | 9 | no |
| GO:0010801 | negative regulation of peptidyl-threonine phosphorylation | 25.0000 | 9 | no |
| GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 25.0000 | 6 | no |
| GO:0010881 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | 25.0000 | 7 | no |
| GO:0010882 | regulation of cardiac muscle contraction by calcium ion signaling | 25.0000 | 6 | no |
| GO:0010921 | regulation of phosphatase activity | 25.0000 | 5 | no |
| GO:0010922 | positive regulation of phosphatase activity | 25.0000 | 6 | no |
| GO:0019722 | calcium-mediated signaling | 25.0000 | 5 | no |
| GO:0022898 | regulation of transmembrane transporter activity | 25.0000 | 4 | no |
| GO:0031952 | regulation of protein autophosphorylation | 25.0000 | 8 | no |
| GO:0031954 | positive regulation of protein autophosphorylation | 25.0000 | 9 | no |
| GO:0032410 | negative regulation of transporter activity | 25.0000 | 4 | no |
| GO:0032411 | positive regulation of transporter activity | 25.0000 | 4 | no |
| GO:0032412 | regulation of monoatomic ion transmembrane transporter activity | 25.0000 | 5 | no |
| GO:0032413 | negative regulation of ion transmembrane transporter activity | 25.0000 | 5 | no |
| GO:0032414 | positive regulation of ion transmembrane transporter activity | 25.0000 | 5 | no |
| GO:0032465 | regulation of cytokinesis | 25.0000 | 5 | no |
| GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 25.0000 | 7 | no |
| GO:0033674 | positive regulation of kinase activity | 25.0000 | 6 | no |
| GO:0035303 | regulation of dephosphorylation | 25.0000 | 7 | no |
| GO:0035304 | regulation of protein dephosphorylation | 25.0000 | 7 | no |
| GO:0035306 | positive regulation of dephosphorylation | 25.0000 | 8 | no |
| GO:0035307 | positive regulation of protein dephosphorylation | 25.0000 | 8 | no |
| GO:0043085 | positive regulation of catalytic activity | 25.0000 | 4 | no |
| GO:0043666 | regulation of phosphoprotein phosphatase activity | 25.0000 | 6 | no |
| GO:0044057 | regulation of system process | 25.0000 | 4 | no |
| GO:0044772 | mitotic cell cycle phase transition | 25.0000 | 4 | no |
| GO:0044839 | cell cycle G2/M phase transition | 25.0000 | 4 | no |
| GO:0045859 | regulation of protein kinase activity | 25.0000 | 6 | no |
| GO:0045860 | positive regulation of protein kinase activity | 25.0000 | 7 | no |
| GO:0050848 | regulation of calcium-mediated signaling | 25.0000 | 6 | no |
| GO:0051279 | regulation of release of sequestered calcium ion into cytosol | 25.0000 | 5 | no |
| GO:0051280 | negative regulation of release of sequestered calcium ion into cytosol | 25.0000 | 6 | no |
| GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | 25.0000 | 6 | no |
| GO:0051282 | regulation of sequestering of calcium ion | 25.0000 | 4 | no |
| GO:0051284 | positive regulation of sequestering of calcium ion | 25.0000 | 5 | no |
| GO:0051302 | regulation of cell division | 25.0000 | 4 | no |
| GO:0051336 | regulation of hydrolase activity | 25.0000 | 4 | no |
| GO:0051342 | regulation of cyclic-nucleotide phosphodiesterase activity | 25.0000 | 5 | no |
| GO:0051343 | positive regulation of cyclic-nucleotide phosphodiesterase activity | 25.0000 | 6 | no |
| GO:0051345 | positive regulation of hydrolase activity | 25.0000 | 5 | no |
| GO:0051347 | positive regulation of transferase activity | 25.0000 | 5 | no |
| GO:0051924 | regulation of calcium ion transport | 25.0000 | 7 | no |
| GO:0051926 | negative regulation of calcium ion transport | 25.0000 | 6 | no |
| GO:0051928 | positive regulation of calcium ion transport | 25.0000 | 6 | no |
| GO:0055117 | regulation of cardiac muscle contraction | 25.0000 | 7 | no |
| GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 25.0000 | 6 | no |
| GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 25.0000 | 7 | no |
| GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 25.0000 | 7 | no |
| GO:0071310 | cellular response to organic substance | 25.0000 | 4 | no |
| GO:0071900 | regulation of protein serine/threonine kinase activity | 25.0000 | 7 | no |
| GO:0071902 | positive regulation of protein serine/threonine kinase activity | 25.0000 | 8 | no |
| GO:0090257 | regulation of muscle system process | 25.0000 | 5 | no |
| GO:1901019 | regulation of calcium ion transmembrane transporter activity | 25.0000 | 6 | no |
| GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 25.0000 | 6 | no |
| GO:1901021 | positive regulation of calcium ion transmembrane transporter activity | 25.0000 | 6 | no |
| GO:1901844 | regulation of cell communication by electrical coupling involved in cardiac conduction | 25.0000 | 6 | no |
| GO:0007520 | myoblast fusion | 16.6667 | 4 | yes |
Disease
No data found.
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| RABE1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| KCNH1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| CALM3_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| KCNB1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| KCNC1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| KCNF1_HUMAN | [view interactions] | Low throughput | no | no |
| 1433T_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| MKRN1_HUMAN | [view interactions] | Low throughput | no | no |
| CUL7_HUMAN | [view interactions] | Low throughput | no | yes |
| CALM2_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| CALM1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| MTA70_HUMAN | [view interactions] | High throughput | no | no |
| SDCB1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FAKD5_HUMAN | [view interactions] | High throughput | no | yes |
| NTAQ1_HUMAN | [view interactions] | High throughput | no | yes |
| BCAR1_HUMAN | [view interactions] | High throughput | no | yes |
| PRKN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| KCNH4_HUMAN | [view interactions] | High throughput | no | no |
| LYRIC_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| KCAB1_HUMAN | [view interactions] | High throughput | no | no |
| KCNH5_HUMAN | [view interactions] | High throughput | no | no |