Reviewed,
UniProtKB/Swiss-Prot P14867 (GBRA1_HUMAN)
Last modified
June 16, 2009.
Version 108.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Gamma-aminobutyric acid receptor subunit alpha-1 Alternative name(s): GABA(A) receptor subunit alpha-1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 456 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. |
| Subunit structure | Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. |
| Subcellular location | Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. |
| Involvement in disease | Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Ref.4 Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. ECA4 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood. Ref.5 |
| Sequence similarities | Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification] |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 27 | 27 | Potential | ||||||||
| Chain | 28 – 456 | 429 | Gamma-aminobutyric acid receptor subunit alpha-1 | PRO_0000000428 | |||||||
Regions | |||||||||||
| Topological domain | 28 – 251 | 224 | Extracellular Probable | ||||||||
| Transmembrane | 252 – 273 | 22 | Probable | ||||||||
| Transmembrane | 279 – 300 | 22 | Probable | ||||||||
| Transmembrane | 313 – 334 | 22 | Probable | ||||||||
| Topological domain | 335 – 421 | 87 | Cytoplasmic Probable | ||||||||
| Transmembrane | 422 – 443 | 22 | Probable | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 368 | 1 | Phosphotyrosine By similarity | ||||||||
| Modified residue | 375 | 1 | Phosphotyrosine By similarity | ||||||||
| Glycosylation | 38 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 138 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 166 ↔ 180 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 322 | 1 | A → D in EJM. Ref.4 | VAR_013642 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 122 | 1 | W → R in CAA32874. Ref.1 | ||||||||
| Sequence conflict | 128 – 140 | 13 | Missing in CAA31925. Ref.3 | ||||||||
| Sequence conflict | 204 | 1 | R → H in CAA31925. Ref.3 | ||||||||
| Sequence conflict | 315 | 1 | W → WDW Ref.3 | ||||||||
| Sequence conflict | 362 – 364 | 3 | IKK → FPN Ref.3 | ||||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| X13584 mRNA. Translation: CAA31925.1. BC030696 mRNA. Translation: AAH30696.1. X14766 mRNA. Translation: CAA32874.1. | |
| IPI | IPI00295235. |
| PIR | A31588. A60652. |
| RefSeq | NP_000797.2. NP_001121115.1. NP_001121116.1. NP_001121117.1. NP_001121118.1. NP_001121119.1. NP_001121120.1. |
| UniGene | Hs.175934 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P14867. |
Proteomic databases | |
| PRIDE | P14867. |
Genome annotation databases | |
| Ensembl | ENSG00000022355. Homo sapiens. [Contig view] |
| GeneID | 2554. |
| KEGG | hsa:2554. |
Organism-specific databases | |
| GeneCards | GC05P161206. |
| H-InvDB | HIX0005383. |
| HGNC | HGNC:4075. GABRA1. |
| HPA | CAB001963. |
| MIM | 137160. gene. 606904. phenotype. 611136. phenotype. |
| Orphanet | 307. Juvenile myoclonic epilepsy. |
| PharmGKB | PA28489. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P14867. |
| HOVERGEN | P14867. |
| OMA | P14867. PNIARDP. |
Gene expression databases | |
| ArrayExpress | P14867. |
| Bgee | P14867. |
| CleanEx | HS_GABRA1. |
| GermOnline | ENSG00000022355. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005431. GABBAa1_rcpt. IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. IPR018000. Neurotransmitter_ion_chnl_CS. [Graphical view] |
| Gene3D | G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit. |
| PANTHER | PTHR18945. Neur_channel. 1 hit. |
| Pfam | PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view] |
| PRINTS | PR01079. GABAARALPHA. PR01614. GABAARALPHA1. PR00253. GABAARECEPTR. PR00252. NRIONCHANNEL. |
| TIGRFAMs | TIGR00860. LIC. 1 hit. |
| PROSITE | PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00404. Alprazolam. DB00237. Butabarbital. DB00241. Butalbital. DB01353. Butethal. DB00475. Chlordiazepoxide. DB00349. Clobazam. DB01068. Clonazepam. DB00628. Clorazepate. DB01189. Desflurane. DB00829. Diazepam. DB00228. Enflurane. DB00898. Ethanol. DB00189. Ethchlorvynol. DB00292. Etomidate. DB01205. Flumazenil. DB00690. Flurazepam. DB00801. Halazepam. DB01159. Halothane. DB01355. Hexobarbital. DB00753. Isoflurane. DB00186. Lorazepam. DB00371. Meprobamate. DB00463. Metharbital. DB00474. Methohexital. DB01028. Methoxyflurane. DB00849. Methylphenobarbital. DB01107. Methyprylon. DB00683. Midazolam. DB01595. Nitrazepam. DB00842. Oxazepam. DB00312. Pentobarbital. DB01174. Phenobarbital. DB00466. Picrotoxin. DB01588. Prazepam. DB00794. Primidone. DB00837. Progabide. DB00818. Propofol. DB01589. Quazepam. DB00418. Secobarbital. DB01236. Sevoflurane. DB00306. Talbutal. DB01154. Thiamylal. DB00599. Thiopental. DB00273. Topiramate. DB00962. Zaleplon. DB00425. Zolpidem. |
| NextBio | 10087. |
| SOURCE | Search... |
Entry information
| Entry name | GBRA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P14867 Secondary accession number(s): Q8N629 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| Protein Spotlight Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries |
| SIMILARITY comments Index of protein domains and families |

Clusters with


