Reviewed,
UniProtKB/Swiss-Prot Q16445 (GBRA6_HUMAN)
Last modified
November 25, 2008.
Version 76.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
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) | ||
| 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. | 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
| « Hide 'large scale' references | |
| [1] | "Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors." Hadingham K.L., Garrett E.M., Wafford K.A., Bain C., Heavens R.P., Sirinathsinghji D.J., Whiting P.J. Mol. Pharmacol. 49:253-259(1996) [PubMed: 8632757] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Cerebellum. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-180. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| S81944 mRNA. Translation: AAB36480.1. BC096241 mRNA. Translation: AAH96241.1. BC096242 mRNA. Translation: AAH96242.1. BC099640 mRNA. Translation: AAH99640.1. BC099641 mRNA. Translation: AAH99641.1. | |
| RefSeq | NP_000802.2. |
| UniGene | Hs.90791 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q16445. |
Genome annotation databases | |
| Ensembl | ENSG00000145863. Homo sapiens. [Contig view] |
| GeneID | 2559. |
| KEGG | hsa:2559. |
| NMPDR | fig|9606.3.peg.26114. |
Organism-specific databases | |
| H-InvDB | HIX0005382. |
| HGNC | HGNC:4080. GABRA6. |
| MIM | 137143. gene. |
| PharmGKB | PA28494. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q16445. |
| HOVERGEN | Q16445. |
Gene expression databases | |
| ArrayExpress | Q16445. |
| CleanEx | HS_GABRA6. |
| GermOnline | ENSG00000145863. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005436. GABBAa6_rcpt. IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. [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): Q4VAV2 | ||||||||
| 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 |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


