InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCND3

Summary

InnateDB Protein

IDBP-101102.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCND3

Protein Name

potassium voltage-gated channel, Shal-related subfamily, member 3

Synonyms

KCND3L; KCND3S; KSHIVB; KV4.3; SCA19; SCA22;

Species

Homo sapiens

Ensembl Protein

ENSP00000358711

InnateDB Gene

IDBG-101100 (KCND3)

Protein Structure

UniProt Annotation

Function

Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. {ECO:0000269PubMed:10200233, ECO:0000269PubMed:9843794}.

Subcellular Localization

Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma {ECO:0000250}. Cell projection, dendrite {ECO:0000250}.

Disease Associations

Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269PubMed:23280837, ECO:0000269PubMed:23280838}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with autopsy-negative sudden unexplained death syndrome (SUDS).

Tissue Specificity

Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas. {ECO:0000269PubMed:10200233, ECO:0000269PubMed:10729221, ECO:0000269PubMed:9843794}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005250	A-type (transient outward) potassium channel activity
GO:0005515	protein binding
GO:0044325	ion channel binding
GO:0046872	metal ion binding

Biological Process

GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0007268	synaptic transmission
GO:0008219	cell death
GO:0034765	regulation of ion transmembrane transport
GO:0051260	protein homooligomerization
GO:0055085	transmembrane transport
GO:0071435	potassium ion export
GO:0086009	membrane repolarization

Cellular Component

GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0016020	membrane
GO:0030425	dendrite
GO:0042383	sarcolemma

Protein Structure and Domains

PDB ID

InterPro

IPR000210 BTB/POZ-like
IPR003091 Potassium channel
IPR003131 Potassium channel tetramerisation-type BTB domain
IPR003968 Potassium channel, voltage dependent, Kv
IPR003971 Potassium channel, voltage dependent, Kv9
IPR003974 Potassium channel, voltage dependent, Kv3
IPR003975 Potassium channel, voltage dependent, Kv4
IPR004056 Potassium channel, voltage dependent, Kv4.3
IPR005821 Ion transport domain
IPR011333 BTB/POZ fold
IPR013099 Two pore domain potassium channel domain
IPR021645 Shal-type voltage-gated potassium channels
IPR024587 Potassium channel, voltage dependent, Kv4, C-terminal

PFAM

PF02214
PF00520
PF07885
PF11601
PF11879

PRINTS

PR00169
PR01491
PR01494
PR01498
PR01497
PR01518

PIRSF

SMART

SM00225

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt