| Type | Description |
|---|---|
| Definition | gamma-aminobutyric acid type A receptor alpha1 subunit |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 12:59:00 | Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABAA) receptors. | 32540960 |
| 2020-12-19 13:38:00 | Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy. | 32513829 |
| 2020-11-21 13:31:00 | A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. | 32047208 |
| 2020-09-26 13:02:00 | Phenotypic variability of GABRA1-related epilepsy in monozygotic twins. | 31568673 |
| 2020-06-13 11:45:00 | the GABRA1 (R214C) variant reduces channel activity and surface expression of mutant receptors, thereby contributing to the pathogenesis of genetic epileptic encephalopathy. | 31707987 |
| Type | IDs |
|---|---|
| Synonymous | ECA4, EIEE19, EJM, EJM5 |
| Gene |
UniProtKB-ID:
GBRA1_HUMAN,
A8K177_HUMAN
UniprotKB:
P14867,
A8K177
UniParc:
UPI000012AF95,
UPI00015DA524
EMBL:
BC030696,
CH471062,
AK289792,
X13584,
X14766
Ensembl:
ENSG00000022355
KO:
hsa:2554
|
| Nucleutide sequences |
EMBL-CDS:
AAH30696.1,
EAW61539.1,
EAW61538.1,
CAA32874.1,
CAA31925.1,
BAF82481.1
Ensembl_TRS:
ENST00000437025,
ENST00000637827,
ENST00000638112,
ENST00000636573,
ENST00000393943,
ENST00000023897,
ENST00000635880,
ENST00000428797
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000393097,
ENSP00000489839,
ENSP00000489738,
ENSP00000490320,
ENSP00000377517,
ENSP00000023897,
ENSP00000490804,
ENSP00000415441
RefSeq:
NP_001121120.1,
NP_000797.2,
NP_001121117.1,
NP_001121115.1,
NP_001121116.1
|
| Others |
UniRef100:
UniRef100_A8K177,
UniRef100_P14867
UniRef90:
UniRef90_P62812,
UniRef90_P14867
UniRef50:
UniRef50_Q8BHJ7,
UniRef50_P14867
UniGene:
Hs.175934
CCDS:
CCDS4357.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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