Reviewed,
UniProtKB/Swiss-Prot P48169 (GBRA4_HUMAN)
Last modified
November 25, 2008.
Version 86.
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-4 Alternative name(s): GABA(A) receptor subunit alpha-4 | ||
| 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 | 554 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 | 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. |
| Induction | The alpha4 beta2 gamma 2L receptor is not repressed by diazepam. |
| 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 – 35 | 35 | Potential | ||||||||
| Chain | 36 – 554 | 519 | Gamma-aminobutyric acid receptor subunit alpha-4 | PRO_0000000441 | |||||||
Regions | |||||||||||
| Topological domain | 36 – 258 | 223 | Extracellular Probable | ||||||||
| Transmembrane | 259 – 280 | 22 | Probable | ||||||||
| Transmembrane | 285 – 306 | 22 | Probable | ||||||||
| Transmembrane | 318 – 340 | 23 | Probable | ||||||||
| Topological domain | 341 – 523 | 183 | Cytoplasmic Probable | ||||||||
| Transmembrane | 524 – 543 | 20 | Probable | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 140 | 1 | Phosphoserine | ||||||||
| Modified residue | 142 | 1 | Phosphoserine | ||||||||
| Glycosylation | 47 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 144 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 157 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 172 ↔ 186 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 19 | 1 | A → T: dbSNP rs16859837. | VAR_046552 | |||||||
| Natural variant | 26 | 1 | L → M: dbSNP rs2229940. | VAR_046553 | |||||||
| Natural variant | 516 | 1 | S → R in a breast cancer sample; somatic mutation. | VAR_036032 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 316 | 1 | A → L in AAB52519. Ref.1 | ||||||||
| Sequence conflict | 379 | 1 | N → D in AAB52519. Ref.1 | ||||||||
| Sequence conflict | 463 | 1 | Y → H in AAB52519. Ref.1 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site." Yang W., Drewe J.A., Lan N.C. Eur. J. Pharmacol. 291:319-325(1995) [PubMed: 8719416] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION. Tissue: Brain cortex. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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]. Tissue: Brain. |
| [6] | "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster." McLean P.J., Farb D.H., Russek S.J. Genomics 26:580-586(1995) [PubMed: 7607683] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-57. |
| [7] | "Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction." Tang L.-Y., Deng N., Wang L.-S., Dai J., Wang Z.-L., Jiang X.-S., Li S.-J., Li L., Sheng Q.-H., Wu D.-Q., Li L., Zeng R. Mol. Cell. Proteomics 6:1952-1967(2007) [PubMed: 17693683] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-140 AND SER-142, MASS SPECTROMETRY. |
| [8] | "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] ARG-516. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U30461 mRNA. Translation: AAB52519.1. AK090780 mRNA. Translation: BAG52228.1. AC107383 Genomic DNA. No translation available. CH471069 Genomic DNA. Translation: EAW93029.1. BC035055 mRNA. Translation: AAH35055.1. U20166 Genomic DNA. Translation: AAA74743.1. | |
| PIR | G01928. |
| RefSeq | NP_000800.2. |
| UniGene | Hs.248112 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P48169. |
Genome annotation databases | |
| Ensembl | ENSG00000109158. Homo sapiens. [Contig view] |
| GeneID | 2557. |
| KEGG | hsa:2557. |
Organism-specific databases | |
| HGNC | HGNC:4078. GABRA4. |
| MIM | 137141. gene. |
| PharmGKB | PA28492. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P48169. |
| HOVERGEN | P48169. |
Gene expression databases | |
| ArrayExpress | P48169. |
| CleanEx | HS_GABRA4. |
| GermOnline | ENSG00000109158. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005434. GABBAa4_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. PR01617. GABAARALPHA4. 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 | 10099. |
| SOURCE | Search... |
Entry information
| Entry name | GBRA4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P48169 Secondary accession number(s): Q8IYR7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: 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


