Reviewed,
UniProtKB/Swiss-Prot Q16445 (GBRA6_HUMAN)
Last modified
February 9, 2010.
Version 91.
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-6 Alternative name(s): GABA(A) receptor subunit alpha-6 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 453 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript 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. |
| 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 – 19 | 19 | Potential | ||||||||
| Chain | 20 – 453 | 434 | Gamma-aminobutyric acid receptor subunit alpha-6 | PRO_0000000447 | |||||||
Regions | |||||||||||
| Topological domain | 20 – 242 | 223 | Extracellular Probable | ||||||||
| Transmembrane | 243 – 264 | 22 | Probable | ||||||||
| Transmembrane | 269 – 290 | 22 | Probable | ||||||||
| Transmembrane | 301 – 324 | 24 | Probable | ||||||||
| Topological domain | 325 – 419 | 95 | Cytoplasmic Probable | ||||||||
| Transmembrane | 420 – 441 | 22 | Probable | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 31 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 128 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 141 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 156 ↔ 170 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 180 | 1 | P → H in a colorectal cancer sample; somatic mutation. Ref.5 | VAR_036033 | |||||||
| Natural variant | 187 | 1 | T → M: dbSNP rs3811993. | VAR_036782 | |||||||
| Natural variant | 404 | 1 | P → S: dbSNP rs34907804. | VAR_036783 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 408 | 1 | S → P in AAB36480. Ref.1 | ||||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | S81944 mRNA. Translation: AAB36480.1. AK289461 mRNA. Translation: BAF82150.1. CH471062 Genomic DNA. Translation: EAW61542.1. BC096241 mRNA. Translation: AAH96241.1. BC096242 mRNA. Translation: AAH96242.1. BC099640 mRNA. Translation: AAH99640.1. BC099641 mRNA. Translation: AAH99641.1. |
| IPI | IPI00002215. |
| RefSeq | NP_000802.2. |
| UniGene | Hs.90791 |
3D structure databases | |
| SMR | Q16445. Positions 31-325, 33-440. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q16445. |
PTM databases | |
| PhosphoSite | Q16445. |
Proteomic databases | |
| PRIDE | Q16445. |
Genome annotation databases | |
| Ensembl | ENST00000274545; ENSP00000274545; ENSG00000145863; Homo sapiens. [Genome view] |
| GeneID | 2559. |
| KEGG | hsa:2559. |
| NMPDR | fig|9606.3.peg.26114. |
| UCSC | uc003lyu.2. human. |
Organism-specific databases | |
| CTD | 2559. |
| GeneCards | GC05P161045. |
| H-InvDB | HIX0005382. |
| HGNC | HGNC:4080. GABRA6. |
| MIM | 137143. gene. |
| PharmGKB | PA28494. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18188. |
| HOGENOM | HBG506497. |
| HOVERGEN | Q16445. |
| InParanoid | Q16445. |
| OMA | NTINGGR. |
| OrthoDB | EOG97H88T. |
| PhylomeDB | Q16445. |
Gene expression databases | |
| ArrayExpress | Q16445. |
| Bgee | Q16445. |
| CleanEx | HS_GABRA6. |
| Genevestigator | Q16445. |
| GermOnline | ENSG00000145863. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005436. GABBAa6_rcpt. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. 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. PR01619. GABAARALPHA6. 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. DB00189. Ethchlorvynol. DB01544. Flunitrazepam. DB00690. Flurazepam. DB00186. Lorazepam. DB00371. Meprobamate. DB00683. Midazolam. |
| NextBio | 10107. |
| SOURCE | Search... |
Entry information
| Entry name | GBRA6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q16445 Secondary accession number(s): A8K096, Q4VAV2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
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


