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MGP001714

UniProt Annotations

Entry Information

Gene Name	potassium channel, voltage gated Shal related subfamily D, member 3
Protein Entry	KCND3_HUMAN
UniProt ID	Q9UK17
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KCND3L, Long; IsoId=Q9UK17-1; Sequence=Displayed; Name=2; Synonyms=KCND3S, Short; IsoId=Q9UK17-2; Sequence=VSP_008826;
Disease	Note=KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with autopsy-negative sudden unexplained death syndrome (SUDS).
Disease	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:0000269\|PubMed:23280837, ECO:0000269\|PubMed:23280838}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
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:0000269\|PubMed:10200233, ECO:0000269\|PubMed:9843794}.
Ptm	Regulated through phosphorylation at Ser-569 by CaMK2D. {ECO:0000250}.
Similarity	Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily. {ECO:0000305}.
Subcellular Location	Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma {ECO:0000250}. Cell projection, dendrite {ECO:0000250}.
Subunit	Homotetramer or heterotetramer with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with KCNE1, KCNE2, SCN1B and KCNAB1 and DLG1. {ECO:0000250, ECO:0000269\|PubMed:12297301, ECO:0000269\|PubMed:14980207, ECO:0000269\|PubMed:17187064, ECO:0000269\|PubMed:19213956}.
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:0000269\|PubMed:10200233, ECO:0000269\|PubMed:10729221, ECO:0000269\|PubMed:9843794}.
Web Resource	Name=Potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/KCND3";