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Awaiting annotation/under development. Please contact us if you can help with annotation.
α1
Family: GABAA receptors
| Gene and Protein Information |
| Species |
TM |
AA |
Chromosomal Location |
Gene Symbol |
Gene Name |
Reference |
| Human |
4 |
456 |
5q34-q35 |
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
1 |
| Mouse |
4 |
455 |
11 A5 |
Gabra1
|
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1
|
2 |
| Rat |
4 |
455 |
10q21 |
Gabra1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
3 |
| Previous and Unofficial Names |
| EJM5 |
| GABA(A) receptor, alpha 1 |
| GABA(A) receptor subunit alpha-1 |
| gamma-aminobutyric acid (GABA-A) receptor subunit alpha 1 |
| gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 1 |
| gamma-aminobutyric acid A receptor, alpha 1 |
| gamma-aminobutyric acid receptor subunit alpha-1 |
| GABAA alpha 1 |
| Gabra-1 |
| Database Links |
|
ChEMBL Target
|
74 (Hs), 11433 (Mm), 19609 (Rn)
|
|
DrugBank Target
|
872 (Hs)
|
|
Ensembl
|
ENSG00000022355 (Hs), ENSMUSG00000010803 (Mm), ENSRNOG00000003512 (Rn)
|
|
Entrez Gene
|
2554 (Hs), 14394 (Mm), 29705 (Rn)
|
|
GeneCards
|
GABRA1 (Hs)
|
|
GenitoUrinary Development Molecular Anatomy Project
|
Gabra1 (Mm)
|
|
HomoloGene
|
629 (Hs)
|
|
Human Protein Reference Database
|
00662 (Hs)
|
|
InterPro
|
P14867 (Hs), P62812 (Mm), P62813 (Rn)
|
|
KEGG Gene
|
hsa:2554 (Hs), mmu:14394 (Mm), rno:29705 (Rn)
|
|
OMIM
|
137160 (Hs)
|
|
Orphanet Gene
|
ORPHA121989 (Hs)
|
|
PharmGKB Gene
|
PA28489 (Hs)
|
|
PhosphoSitePlus
|
P14867 (Hs), P62812 (Mm), P62813 (Rn)
|
|
Protein Ontology (PRO)
|
PRO:000007766 (Hs)
|
|
RefSeq Nucleotide
|
NM_000806 (Hs), NM_010250 (Mm), NM_183326 (Rn)
|
|
RefSeq Protein
|
NP_000797 (Hs), NP_034380 (Mm), NP_899155 (Rn)
|
|
TreeFam
|
ENSG00000022355 (Hs), ENSMUSG00000010803 (Mm), ENSRNOG00000003512 (Rn)
|
|
UniGene Hs.
|
175934 (Hs)
|
|
UniProt
|
P14867 (Hs), P62812 (Mm), P62813 (Rn)
|
|
Wikipedia
|
α1
|
|
GABAA receptors
|
| Search for 3D structures on the PDB |
|
Search by keyword:
GABAA receptors α1
|
Search by accession number: P62813, P62812, P14867
|
| Natural/Endogenous Ligand(s) |
| GABA |
| Clinically-Relevant Mutations and Pathophysiology
|
| Disease: |
Juvenile myoclonic epilepsy, susceptibility to, 5; EJM5 |
| OMIM: |
611136 |
| Orphanet: |
64280 |
| References: |
|
|
|
Mutations not determined
|
|
| Disease: |
Childhood absence epilepsy, suceptibility to, 4; ECA4 |
| OMIM: |
611136 |
| Orphanet: |
64280 |
| References: |
|
|
|
Mutations not determined
|
|
REFERENCES
Show »« Hide
1. Garrett, KM; Duman, RS; Saito, N; Blume, AJ; Vitek, MP; Tallman, JF. (1988) Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor.
Biochem. Biophys. Res. Commun., 156 (2): 1039-45.
[PMID:2847710]
2. Keir, WJ; Kozak, CA; Chakraborti, A; Deitrich, RA; Sikela, JM. (1991) The cDNA sequence and chromosomal location of the murine GABAA alpha 1 receptor gene.
Genomics, 9 (2): 390-5.
[PMID:1848528]
3. Wieland, HA; Lüddens, H; Seeburg, PH. (1992) A single histidine in GABAA receptors is essential for benzodiazepine agonist binding.
J. Biol. Chem., 267 (3): 1426-9.
[PMID:1346133]
To cite this database page, please use the following:
Richard Olsen, John A. Peters, Tim G. Hales, Werner Sieghart, Uwe Rudolph, Jeremy J. Lambert, Delia Belelli, Bernhard Luscher.
GABAA receptors: α1. Last modified on 08/03/2013. Accessed on 23/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=404.
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