MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001703

UniProt Annotations

Entry Information
Gene Namepotassium channel, voltage gated shaker related subfamily A, member 5
Protein EntryKCNA5_HUMAN
UniProt IDP22460
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22460-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P22460-2; Sequence=VSP_037110;
DiseaseAtrial fibrillation, familial, 7 (ATFB7) [MIM:612240]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:16772329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ- binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
DomainThe segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
FunctionMediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. This channel displays rapid activation and slow inactivation. May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation. {ECO:0000269|PubMed:11524461, ECO:0000269|PubMed:8505626}.
InteractionP35609:ACTN2; NbExp=6; IntAct=EBI-6426121, EBI-77797;
PtmSumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel. {ECO:0000269|PubMed:17261810}.
Sequence CautionSequence=AAA60146.1; Type=Frameshift; Positions=579; Evidence={ECO:0000305};
SimilarityBelongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitHeterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms a ternary complex with DLG1 and CAV3 (By similarity). Interacts with UBE2I. {ECO:0000250, ECO:0000269|PubMed:16466689, ECO:0000269|PubMed:17261810}.
Tissue SpecificityPancreatic islets and insulinoma.
  logo