KEGG   Homo sapiens (human): 2554
Entry
2554              CDS       T01001                                 
Symbol
GABRA1, DEE19, ECA4, EIEE19, EJM, EJM5
Name
(RefSeq) gamma-aminobutyric acid receptor subunit alpha-1 precursor
  KO
K05175  gamma-aminobutyric acid receptor subunit alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04082  Neuroactive ligand signaling
hsa04519  Cadherin signaling
hsa04723  Retrograde endocannabinoid signaling
hsa04727  GABAergic synapse
hsa04742  Taste transduction
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
Network
nt06544  Neuroactive ligand signaling
nt06549  Cadherin signaling
  Element
N01887  Transport of chloride, GABAA receptor
N01891  GABAA receptor trafficking
N02005  Protocadherin delta 2 to GABR1 signaling
Disease
H00606  Early infantile epileptic encephalopathy
H00808  Idiopathic generalized epilepsies
H02215  Childhood absence epilepsy
H02217  Juvenile myoclonic epilepsy
Drug target
Abecarnil: D02594
Adinazolam (DG00911): D02770 D02771
Adipiplon: D08840
Alpidem: D02833
Alprazolam: D00225<JP/US>
Aminobutyric acid: D00058<JP>
Amobarbital (DG00916): D00555 D02252
Aprobarbital: D00698
Barbexaclone: D07298
Barbital: D01740
Bretazenil: D03155
Brexanolone: D11149
Bromazepam: D01245<JP>
Brotizolam: D01744<JP>
Butabarbital (DG01308): D00699 D03180
Butobarbital: D02618
Cenobamate: D11150<US>
Chlordiazepoxide (DG00908): D00267<JP> D00693<US>
Cinolazepam: D07328
Cipepofol: D12449
Clobazam: D01253<JP/US>
Clomethiazole (DG00923): D07330 D07725
Clonazepam: D00280<JP/US>
Clotiazepam: D01328<JP>
Cloxazolam: D01268<JP>
Darigabat: D12146
Delorazepam: D07784
Dextofisopam: D03737
Diazepam: D00293<JP/US>
Dimdazenil: D13231
Estazolam: D00311<JP/US>
Eszopiclone: D02624<JP/US>
Ethyl loflazepate: D01293<JP>
Etizolam: D01514<JP>
Etomidate: D00548<US>
Fludiazepam: D01354
Flumazenil: D00697<JP/US>
Flunitrazepam: D01230<JP>
Flurazepam (DG00919): D00329 D00695<US> D01408<JP>
Flutazolam: D01286
Flutoprazepam: D01279
Gaboxadol: D04282
Ganaxolone: D04300<US>
Glutethimide: D00532
Halazepam: D00338
Haloxazolam: D01758<JP>
Hexobarbital: D01071
Indiplon: D02640
Iomazenil: D02283<JP>
Ketazolam: D04650
Levotofisopam: D04721
Loprazolam (DG00921): D07326 D08145
Lorazepam: D00365<JP/US>
Lormetazepam: D01657<JP>
Medazepam (DG00909): D01292<JP> D04882
Meprobamate: D00376<US>
Metharbital: D01382
Methohexital (DG00789): D00712<US> D04985
Methylphenobarbital: D00700
Methyprylon: D01150
Mexazolam: D01316<JP>
Midazolam (DG00920): D00550<JP/US> D00696<US> D05028
Nimetazepam: D01593
Nitrazepam: D00531<JP>
Nordazepam: D08283
Ocinaplon: D02617
Oxazepam: D00464<US>
Oxazolam: D01278<JP>
Pagoclone: D02616
Panadiplon: D05346
Pazinaclone: D05378
Pentobarbital (DG00915): D00499 D00500<US> D02253<JP>
Phenobarbital (DG00845): D00506<JP> D00701<JP/US> D08356
Potassium clorazepate (DG01218): D00694<JP/US> D03562
Prazepam: D00470
Progabide: D05621
Propofol (DG00797): D00549<JP/US> D04257
Quazepam: D00457<JP/US>
Remimazolam (DG03105): D10194<JP/US> D11788
Rilmazafone (DG01307): D01564<JP> D08481
Sarmazenil: D08507
Secobarbital (DG00917): D00430 D01310
Suritozole: D05980
Talbutal: D06887
Temazepam: D00370<US>
Thiamylal (DG01377): D00713<JP> D06106
Thiopental (DG00790): D00714<JP>
Tofisopam: D01254<JP>
Topiramate: D00537<JP/US>
Triazolam: D00387<JP/US>
Zaleplon: D00530<US>
Zolpidem (DG00922): D00706<JP/US> D08690
Zopiclone: D01372<JP>
Zuranolone: D11793<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    2554 (GABRA1)
   04082 Neuroactive ligand signaling
    2554 (GABRA1)
   04519 Cadherin signaling
    2554 (GABRA1)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    2554 (GABRA1)
   04723 Retrograde endocannabinoid signaling
    2554 (GABRA1)
  09157 Sensory system
   04742 Taste transduction
    2554 (GABRA1)
 09160 Human Diseases
  09165 Substance dependence
   05032 Morphine addiction
    2554 (GABRA1)
   05033 Nicotine addiction
    2554 (GABRA1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    2554 (GABRA1)
Ion channels [BR:hsa04040]
 Ligand-gated channels
  GABA-A
   2554 (GABRA1)
SSDB
Motif
Pfam: Neur_chan_LBD Neur_chan_memb
Other DBs
NCBI-GeneID: 2554
NCBI-ProteinID: NP_000797
OMIM: 137160
HGNC: 4075
UniProt: P14867 A8K177
Structure
Position
5:161847191..161899971
AA seq 456 aa
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
NT seq 1371 nt   +upstreamnt  +downstreamnt
atgaggaaaagtccaggtctgtctgactgtctttgggcctggatcctccttctgagcaca
ctgactggaagaagctatggacagccgtcattacaagatgaacttaaagacaataccact
gtcttcaccaggattttggacagactcctagatggttatgacaatcgcctgagaccagga
ttgggagagcgtgtaaccgaagtgaagactgatatcttcgtcaccagtttcggacccgtt
tcagaccatgatatggaatatacaatagatgtatttttccgtcaaagctggaaggatgaa
aggttaaaatttaaaggacctatgacagtcctccggttaaataacctaatggcaagtaaa
atctggactccggacacatttttccacaatggaaagaagtcagtggcccacaacatgacc
atgcccaacaaactcctgcggatcacagaggatggcaccttgctgtacaccatgaggctg
acagtgagagctgaatgtccgatgcatttggaggacttccctatggatgcccatgcttgc
ccactaaaatttggaagttatgcttatacaagagcagaagttgtttatgaatggaccaga
gagccagcacgctcagtggttgtagcagaagatggatcacgtctaaaccagtatgacctt
cttggacaaacagtagactctggaattgtccagtcaagtacaggagaatatgttgttatg
accactcatttccacttgaagagaaagattggctactttgttattcaaacatacctgcca
tgcataatgacagtgattctctcacaagtctccttctggctcaacagagagtctgtacca
gcaagaactgtctttggagtaacaactgtgctcaccatgacaacattgagcatcagtgcc
agaaactccctccctaaggtggcttatgcaacagctatggattggtttattgccgtgtgc
tatgcctttgtgttctcagctctgattgagtttgccacagtaaactatttcactaagaga
ggttatgcatgggatggcaaaagtgtggttccagaaaagccaaagaaagtaaaggatcct
cttattaagaaaaacaacacttacgctccaacagcaaccagctacacccctaatttggcc
aggggcgacccgggcttagccaccattgctaaaagtgcaaccatagaacctaaagaggtc
aagcccgaaacaaaaccaccagaacccaagaaaacctttaacagtgtcagcaaaattgac
cgactgtcaagaatagccttcccgctgctatttggaatctttaacttagtctactgggct
acgtatttaaacagagagcctcagctaaaagcccccacaccacatcaatag

  All links  
Disease (3)   
   OMIM (3)   
Gene (10)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (141)   
   RefSeq(nuc) (7)   
   GenBank (67)   
   EMBL (67)   
3D Structure (78)   
   PDB (78)   
Protein domain (2)   
   Pfam (2)   
All databases (242)   

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