| Type | Description |
|---|---|
| Definition | chloride voltage-gated channel 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:33:00 | Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. | 33092578 |
| 2020-02-15 10:21:00 | Twenty-eight different pathogenic variants were found in the CLCN1 gene, of which 21 were known mutations and seven not described. A diagnostic yield of 51% was achieved; of which 88% had pathogenic variants in CLCN1 and 12% in SCN4A. | 31544778 |
| 2019-11-16 11:46:00 | Abundance of ClC-1 was higher in fast compared with slow twitch fibers. | 29722626 |
| 2019-07-27 13:04:00 | This study improves our understanding of the mechanisms underlying MC, sheds light on the role of the C-terminal region in ClC-1 function, and provides information to develop new antimyotonic drugs. | 29935101 |
| 2019-04-27 10:44:00 | The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence; to understand why they are different functionally, study determined the structure of the human CLC-1 channel. subtle differences in glutamate gate conformation, internal pore diameter and Cl(-) affinity distinguish CLC channels and transporters. | 29809153 |
| Type | IDs |
|---|---|
| Synonymous | CLC1 |
| Gene |
UniProtKB-ID:
CLCN1_HUMAN
UniprotKB:
P35523
UniParc:
UPI000020F1EC
EMBL:
L08262,
Z25884,
Z25767,
Z25766,
Z25587,
CH236959,
Z25760,
L08264,
L08263,
Z25872,
Z25756,
Z25763,
Z25768,
Z25762,
Z25758,
Z25764,
M97820,
Z25761,
Z25752,
Z25759,
Z25754,
BC113495,
Z25755,
BC112156,
Z25765,
Z25757,
Z25753,
L08265,
L08261
Ensembl:
ENSG00000188037
KO:
hsa:1180
|
| Nucleutide sequences |
EMBL-CDS:
AAI13496.1,
CAB56814.1,
AAI12157.1,
EAL23786.1,
CAB56792.1,
CAA80996.1,
CAA81103.1
Ensembl_TRS:
ENST00000343257
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000339867
RefSeq:
XP_016867229.1,
XP_016867228.1,
XP_011514084.1,
NP_000074.3
|
| Others |
UniRef100:
UniRef100_P35523
UniRef90:
UniRef90_P35523
UniRef50:
UniRef50_P35523
UniGene:
Hs.121483
CCDS:
CCDS5881.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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