| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily C member 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:24:00 | First Evidence of Kv3.1b Subtype Expression during Neuronal Serotonergic 1C11 Development. | 33003279 |
| 2021-01-16 15:57:00 | Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. | 31732108 |
| 2020-05-16 11:52:00 | Authors identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). | 31353862 |
| 2019-05-25 10:46:00 | polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca(2+) regulation of Kv4 channels | 30622142 |
| 2018-09-08 11:23:00 | A recurrent de novo mutation in KCNC1 (c.959G>A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy. This recurrent mutation in KCNC1 was identified in the two brothers who showed characteristic features of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). The asymptomatic mother was suspected as being mosaic for this mutation. | 29428275 |
| Type | IDs |
|---|---|
| Synonymous | EPM7, KV3.1, KV4, NGK2 |
| Gene |
UniProtKB-ID:
KCNC1_HUMAN,
Q3KNS8_HUMAN
UniprotKB:
P48547,
Q3KNS8
UniParc:
UPI00000557DB,
UPI00005C40CF,
UPI0000E2291F
EMBL:
CH471064,
AC124056,
AC124078,
AC124301,
S56770,
BC107129,
M96747
Ensembl:
ENSG00000129159
KO:
hsa:3746
|
| Nucleutide sequences |
EMBL-CDS:
AAB25764.1,
AAA59458.1,
EAW68425.1,
AAI07130.1
Ensembl_TRS:
ENST00000265969,
ENST00000379472
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368785,
ENSP00000265969
RefSeq:
NP_004967.1,
NP_001106212.1
|
| Others |
UniRef100:
UniRef100_Q3KNS8,
UniRef100_P48547
UniRef90:
UniRef90_P15388
UniRef50:
UniRef50_P15388
UniGene:
Hs.552896
CCDS:
CCDS44547.1,
CCDS7827.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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