KCND3
entrez
3752
canonical
uniprot
Q9UK17
canonical
ensembl
ENSG00000171385
resolver
ensp
ENSP00000306923
resolver
ensp
ENSP00000319591
resolver
ensp
ENSP00000358711
resolver
ensp
ENSP00000566125
resolver
ensp
ENSP00000566126
resolver
ensp
ENSP00000780947
resolver
ensp
ENSP00000783964
resolver
genesymbol
KCND3
resolver
hgnc
HGNC:6239
resolver
uniprot
O60576
resolver
uniprot
O60577
resolver
uniprot
Q14D71
resolver
uniprot
Q5T0M0
resolver
uniprot
Q9UH85
resolver
uniprot
Q9UH86
resolver
uniprot
Q9UK16
resolver
uniprot_entry
KCND3_HUMAN
resolver
uniprot_sec
O60576
resolver
uniprot_sec
O60577
resolver
uniprot_sec
Q14D71
resolver
uniprot_sec
Q5T0M0
resolver
uniprot_sec
Q9UH85
resolver
uniprot_sec
Q9UH86
resolver
uniprot_sec
Q9UK16
resolver
amino_acid_sequence
MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLERYPDTLLGSTEKEFFFNEDTKEYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAFYGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESMPSLSFRQTMWRAFENPHTSTLALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVEYLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRADKRRAQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLLHCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHPGLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDGLRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:28895081}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brugada syndrome 9 (BRGDA9) [MIM:616399]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:21349352, ECO:0000269|PubMed:22457051}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:23280837, PubMed:23280838, PubMed:34997220, PubMed:9843794). In cardiomyocytes, may generate the transient outward potassium current I(To) (By similarity). In neurons, may conduct the transient subthreshold somatodendritic A-type potassium current (ISA) (By similarity). Kinetics properties are characterized by fast activation at subthreshold membrane potentials, rapid inactivation, and quick recovery from inactivation (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:23280837, PubMed:23280838, PubMed:34997220, PubMed:9843794). Channel properties are modulated by interactions with regulatory subunits (PubMed:17187064, PubMed:34997220). Interaction with the regulatory subunits KCNIP1 or KCNIP2 modulates the channel gating kinetics namely channel activation and inactivation kinetics and rate of recovery from inactivation (PubMed:17187064, PubMed:34997220). Likewise, interaction with DPP6 modulates the channel gating kinetics namely channel activation and inactivation kinetics (PubMed:34997220). {ECO:0000250|UniProtKB:Q62897, ECO:0000269|PubMed:10200233, ECO:0000269|PubMed:17187064, ECO:0000269|PubMed:21349352, ECO:0000269|PubMed:22457051, ECO:0000269|PubMed:23280837, ECO:0000269|PubMed:23280838, ECO:0000269|PubMed:34997220, ECO:0000269|PubMed:9843794}.
uniprot
proteins
mass_dalton
73451
uniprot
proteins
post_translational_modification
PTM: Regulated through phosphorylation at Ser-569 by CaMK2D. {ECO:0000250|UniProtKB:Q62897}.
uniprot
proteins
protein_family
D (Shal) (TC 1.A.1.2) subfamily
uniprot
proteins
protein_family
Kv4.3/KCND3 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10200233
uniprot
proteins
pubmed
10729221
uniprot
proteins
pubmed
12297301
uniprot
proteins
pubmed
14980207
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17187064
uniprot
proteins
pubmed
19213956
uniprot
proteins
pubmed
21349352
uniprot
proteins
pubmed
22457051
uniprot
proteins
pubmed
23280837
uniprot
proteins
pubmed
23280838
uniprot
proteins
pubmed
28895081
uniprot
proteins
pubmed
34997220
uniprot
proteins
pubmed
9843794
uniprot
proteins
sequence_length
655
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23280837, ECO:0000269|PubMed:23280838}; Multi-pass membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q62897}; Multi-pass membrane protein {ECO:0000255}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q62897}. Note=Interaction with palmitoylated KCNIP2 and KCNIP3 enhances cell surface expression. {ECO:0000250|UniProtKB:Q62897}.
uniprot
proteins
transmembrane_region
TRANSMEM 183..204; /note="Helical; Name=Segment S1"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y"; TRANSMEM 224..246; /note="Helical; Name=Segment S2"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y"; TRANSMEM 254..277; /note="Helical; Name=Segment S3"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y"; TRANSMEM 284..306; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y"; TRANSMEM 319..343; /note="Helical; Name=Segment S5"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y"; TRANSMEM 378..400; /note="Helical; Name=Segment S6"; /evidence="ECO:0000269|PubMed:34997220, ECO:0007744|PDB:7W3Y
uniprot
proteins