Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

KCNH1_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

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

Interacting region for partners were not defined.

Network

Download full PS network for entry.

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:0005216 ion channel activity 63.1579 4 yes
GO:0005244 voltage-gated ion channel activity 63.1579 4 yes
GO:0005249 voltage-gated potassium channel activity 63.1579 6 yes
GO:0005261 cation channel activity 63.1579 5 yes
GO:0005267 potassium channel activity 63.1579 6 yes
GO:0008324 cation transmembrane transporter activity 63.1579 4 yes
GO:0015079 potassium ion transmembrane transporter activity 63.1579 6 yes
GO:0015267 channel activity 63.1579 4 yes
GO:0022832 voltage-gated channel activity 63.1579 6 yes
GO:0022836 gated channel activity 63.1579 5 yes
GO:0022843 voltage-gated cation channel activity 63.1579 5 yes
GO:0022890 inorganic cation transmembrane transporter activity 63.1579 4 yes
GO:0046873 metal ion transmembrane transporter activity 63.1579 5 yes
GO:0005251 delayed rectifier potassium channel activity 47.3684 7 yes
GO:0046872 metal ion binding 31.5789 4 no
GO:0015271 outward rectifier potassium channel activity 26.3158 7 no
GO:0097718 disordered domain specific binding 21.0526 4 no
GO:0035091 phosphatidylinositol binding 15.7895 4 yes
GO:1901981 phosphatidylinositol phosphate binding 15.7895 5 yes
GO:1902936 phosphatidylinositol bisphosphate binding 15.7895 6 yes

Biological process

Term Name % Distance from top the of the tree Annotated in KCNH1_HUMAN
GO:0051049 regulation of transport 84.2105 4 yes
GO:0034762 regulation of transmembrane transport 78.9474 4 yes
GO:0034765 regulation of ion transmembrane transport 78.9474 5 yes
GO:0043269 regulation of ion transport 78.9474 5 yes
GO:0006811 ion transport 63.1579 4 yes
GO:0006812 cation transport 63.1579 5 yes
GO:0006813 potassium ion transport 63.1579 7 yes
GO:0030001 metal ion transport 63.1579 6 yes
GO:0071805 potassium ion transmembrane transport 63.1579 6 yes
GO:0098655 cation transmembrane transport 63.1579 4 yes
GO:0098660 inorganic ion transmembrane transport 63.1579 4 yes
GO:0098662 inorganic cation transmembrane transport 63.1579 5 yes
GO:0022607 cellular component assembly 47.3684 4 no
GO:0043933 protein-containing complex organization 42.1053 4 no
GO:0048522 positive regulation of cellular process 42.1053 4 no
GO:0051259 protein complex oligomerization 42.1053 6 no
GO:0051260 protein homooligomerization 42.1053 7 no
GO:0065003 protein-containing complex assembly 42.1053 5 no
GO:0010038 response to metal ion 36.8421 4 yes
GO:0051050 positive regulation of transport 36.8421 4 no
GO:0048523 negative regulation of cellular process 36.8421 4 no
GO:0060255 regulation of macromolecule metabolic process 31.5789 4 no
GO:0080090 regulation of primary metabolic process 31.5789 4 no
GO:0008104 protein localization 31.5789 4 no
GO:0010959 regulation of metal ion transport 31.5789 6 no
GO:0043270 positive regulation of ion transport 31.5789 5 no
GO:1904062 regulation of cation transmembrane transport 31.5789 6 no
GO:0009892 negative regulation of metabolic process 31.5789 4 no
GO:0010605 negative regulation of macromolecule metabolic process 31.5789 5 no
GO:0010646 regulation of cell communication 31.5789 4 no
GO:0031323 regulation of cellular metabolic process 31.5789 4 no
GO:0031324 negative regulation of cellular metabolic process 31.5789 5 no
GO:0051171 regulation of nitrogen compound metabolic process 31.5789 4 no
GO:0051172 negative regulation of nitrogen compound metabolic process 31.5789 5 no
GO:1902531 regulation of intracellular signal transduction 26.3158 5 no
GO:0051592 response to calcium ion 26.3158 5 yes
GO:0022898 regulation of transmembrane transporter activity 26.3158 4 no
GO:0032411 positive regulation of transporter activity 26.3158 4 no
GO:0032412 regulation of ion transmembrane transporter activity 26.3158 5 no
GO:0032414 positive regulation of ion transmembrane transporter activity 26.3158 5 no
GO:0034764 positive regulation of transmembrane transport 26.3158 5 no
GO:0034767 positive regulation of ion transmembrane transport 26.3158 6 no
GO:0044057 regulation of system process 26.3158 4 no
GO:1904064 positive regulation of cation transmembrane transport 26.3158 7 no
GO:2001257 regulation of cation channel activity 26.3158 6 no
GO:2001259 positive regulation of cation channel activity 26.3158 6 no
GO:0009893 positive regulation of metabolic process 26.3158 4 no
GO:0009966 regulation of signal transduction 26.3158 4 no
GO:0031325 positive regulation of cellular metabolic process 26.3158 5 no
GO:0051051 negative regulation of transport 26.3158 4 no
GO:0051174 regulation of phosphorus metabolic process 21.0526 5 no
GO:0051246 regulation of protein metabolic process 21.0526 5 no
GO:0051247 positive regulation of protein metabolic process 21.0526 6 no
GO:0051248 negative regulation of protein metabolic process 21.0526 6 no
GO:0051726 regulation of cell cycle 21.0526 4 no
GO:0072657 protein localization to membrane 21.0526 4 no
GO:1903522 regulation of blood circulation 21.0526 5 no
GO:0001508 action potential 21.0526 4 no
GO:0006937 regulation of muscle contraction 21.0526 6 no
GO:0007268 chemical synaptic transmission 21.0526 6 no
GO:0090257 regulation of muscle system process 21.0526 5 no
GO:0098916 anterograde trans-synaptic signaling 21.0526 5 no
GO:0099537 trans-synaptic signaling 21.0526 4 no
GO:0051046 regulation of secretion 21.0526 5 no
GO:1903530 regulation of secretion by cell 21.0526 4 no
GO:0001932 regulation of protein phosphorylation 21.0526 7 no
GO:0001934 positive regulation of protein phosphorylation 21.0526 8 no
GO:0008016 regulation of heart contraction 21.0526 6 no
GO:0010562 positive regulation of phosphorus metabolic process 21.0526 6 no
GO:0010604 positive regulation of macromolecule metabolic process 21.0526 5 no
GO:0019220 regulation of phosphate metabolic process 21.0526 6 no
GO:0021762 substantia nigra development 21.0526 4 no
GO:0031399 regulation of protein modification process 21.0526 6 no
GO:0031401 positive regulation of protein modification process 21.0526 7 no
GO:0042325 regulation of phosphorylation 21.0526 7 no
GO:0042327 positive regulation of phosphorylation 21.0526 8 no
GO:0045937 positive regulation of phosphate metabolic process 21.0526 7 no
GO:0051173 positive regulation of nitrogen compound metabolic process 21.0526 5 no
GO:0042127 regulation of cell population proliferation 15.7895 4 yes
GO:0071241 cellular response to inorganic substance 15.7895 4 yes
GO:0071248 cellular response to metal ion 15.7895 5 yes
GO:0007520 myoblast fusion 10.5263 4 yes
GO:0048015 phosphatidylinositol-mediated signaling 10.5263 5 yes
GO:0048017 inositol lipid-mediated signaling 10.5263 4 yes
GO:0071277 cellular response to calcium ion 10.5263 6 yes

Disease

Term Name % Distance from top the of the tree Annotated in KCNH1_HUMAN
DOID:331 central nervous system disease 31.5789 3 no
DOID:0050701 electroclinical syndrome 21.0526 6 no
DOID:1826 epilepsy 21.0526 5 no
DOID:936 brain disease 21.0526 4 no
DOID:0112202 developmental and epileptic encephalopathy 15.7895 7 no
DOID:114 heart disease 15.7895 3 no
DOID:0050951 hereditary ataxia 10.5263 5 no
DOID:1289 neurodegenerative disease 10.5263 4 no
DOID:0050700 cardiomyopathy 10.5263 4 no
DOID:0060036 intrinsic cardiomyopathy 10.5263 5 no
DOID:10273 heart conduction disease 10.5263 4 no
DOID:2843 long QT syndrome 10.5263 6 no

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
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_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
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
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
LGAT1_HUMAN [view interactions] Computational no no
KCNA1_HUMAN [view entry] [view interactions] Computational yes yes
KCND2_HUMAN [view entry] [view interactions] Computational yes yes
KCAB2_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ2_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ3_HUMAN [view interactions] Computational no no
KCNA4_HUMAN [view entry] [view interactions] Computational yes yes
KCNA2_HUMAN [view entry] [view interactions] Computational yes yes
KCNA3_HUMAN [view entry] [view interactions] Computational yes no
KCND3_HUMAN [view entry] [view interactions] Computational yes yes
KCAB3_HUMAN [view interactions] Computational no no
KCNQ1_HUMAN [view interactions] Computational no yes
KCNA5_HUMAN [view interactions] Computational no no