Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 2, mRNA. RefSeq Summary (NM_001204266): Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr4:46,920,917-46,995,522 Size: 74,606 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr4:46,930,242-46,995,452 Size: 65,211 Coding Exon Count: 9
ID:GBRA4_HUMAN DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-4; AltName: Full=GABA(A) receptor subunit alpha-4; Flags: Precursor; 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: 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. SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub-subfamily. WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt056.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48169
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006821 chloride transport GO:0007214 gamma-aminobutyric acid signaling pathway GO:0007417 central nervous system development GO:0034220 ion transmembrane transport GO:1902476 chloride transmembrane transport GO:2001023 regulation of response to drug
BC036474 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4, mRNA (cDNA clone IMAGE:5259163). BC042117 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4, mRNA (cDNA clone IMAGE:4794716). AF238869 - Homo sapiens clone GLSH-2 similar to gliadin mRNA sequence. BC037926 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4, mRNA (cDNA clone IMAGE:5284531). JD559607 - Sequence 540631 from Patent EP1572962. JD294882 - Sequence 275906 from Patent EP1572962. JD506785 - Sequence 487809 from Patent EP1572962. JD084533 - Sequence 65557 from Patent EP1572962. JD241130 - Sequence 222154 from Patent EP1572962. JD091759 - Sequence 72783 from Patent EP1572962. JD358861 - Sequence 339885 from Patent EP1572962. JD359712 - Sequence 340736 from Patent EP1572962. JD163587 - Sequence 144611 from Patent EP1572962. JD566743 - Sequence 547767 from Patent EP1572962. JD374690 - Sequence 355714 from Patent EP1572962. JD327811 - Sequence 308835 from Patent EP1572962. JD503663 - Sequence 484687 from Patent EP1572962. JD367866 - Sequence 348890 from Patent EP1572962. JD181830 - Sequence 162854 from Patent EP1572962. JD378138 - Sequence 359162 from Patent EP1572962. JD292865 - Sequence 273889 from Patent EP1572962. JD139533 - Sequence 120557 from Patent EP1572962. JD227498 - Sequence 208522 from Patent EP1572962. JD562812 - Sequence 543836 from Patent EP1572962. JD236208 - Sequence 217232 from Patent EP1572962. JD092958 - Sequence 73982 from Patent EP1572962. JD428724 - Sequence 409748 from Patent EP1572962. JD313211 - Sequence 294235 from Patent EP1572962. JD326071 - Sequence 307095 from Patent EP1572962. JD552908 - Sequence 533932 from Patent EP1572962. JD563816 - Sequence 544840 from Patent EP1572962. JD039357 - Sequence 20381 from Patent EP1572962. JD550105 - Sequence 531129 from Patent EP1572962. JD093216 - Sequence 74240 from Patent EP1572962. JD422576 - Sequence 403600 from Patent EP1572962. JD237739 - Sequence 218763 from Patent EP1572962. JD243065 - Sequence 224089 from Patent EP1572962. JD298482 - Sequence 279506 from Patent EP1572962. JD226053 - Sequence 207077 from Patent EP1572962. JD063735 - Sequence 44759 from Patent EP1572962. JD433702 - Sequence 414726 from Patent EP1572962. JD071801 - Sequence 52825 from Patent EP1572962. JD516315 - Sequence 497339 from Patent EP1572962. JD083051 - Sequence 64075 from Patent EP1572962. JD315742 - Sequence 296766 from Patent EP1572962. JD302834 - Sequence 283858 from Patent EP1572962. JD315547 - Sequence 296571 from Patent EP1572962. JD559768 - Sequence 540792 from Patent EP1572962. JD285977 - Sequence 267001 from Patent EP1572962. JD326072 - Sequence 307096 from Patent EP1572962. JD301020 - Sequence 282044 from Patent EP1572962. JD235134 - Sequence 216158 from Patent EP1572962. JD235131 - Sequence 216155 from Patent EP1572962. JD101381 - Sequence 82405 from Patent EP1572962. JD506723 - Sequence 487747 from Patent EP1572962. JD551102 - Sequence 532126 from Patent EP1572962. JD552920 - Sequence 533944 from Patent EP1572962. BC035055 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4, mRNA (cDNA clone MGC:41866 IMAGE:5259426), complete cds. JD047070 - Sequence 28094 from Patent EP1572962. JD164749 - Sequence 145773 from Patent EP1572962. JD359463 - Sequence 340487 from Patent EP1572962. AK090780 - Homo sapiens cDNA FLJ33461 fis, clone BRAMY2000946, highly similar to Gamma-aminobutyric-acid receptor alpha-4 subunit precursor. U30461 - Human GABAA receptor subunit alpha4 mRNA, complete cds. DQ891679 - Synthetic construct clone IMAGE:100004309; FLH179217.01X; RZPDo839E01130D gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4) gene, encodes complete protein. KJ896846 - Synthetic construct Homo sapiens clone ccsbBroadEn_06240 GABRA4 gene, encodes complete protein. DQ894864 - Synthetic construct Homo sapiens clone IMAGE:100009324; FLH179213.01L; RZPDo839E01129D gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4) gene, encodes complete protein. EU176605 - Synthetic construct Homo sapiens clone IMAGE:100011576; FLH263603.01L; RZPDo839F04254D gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4) gene, encodes complete protein. KJ534840 - Homo sapiens clone GABRA4_iso-A_adult-A01 gamma-aminobutyric acid A receptor alpha 4 isoform A (GABRA4) mRNA, partial cds, alternatively spliced. KJ535037 - Homo sapiens clone GABRA4_iso-B_fetal-F04 gamma-aminobutyric acid A receptor alpha 4 isoform B (GABRA4) mRNA, complete cds, alternatively spliced. CU690038 - Synthetic construct Homo sapiens gateway clone IMAGE:100019854 5' read GABRA4 mRNA.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04080 - Neuroactive ligand-receptor interaction
BioCarta from NCI Cancer Genome Anatomy Project h_flumazenilPathway - Cardiac Protection Against ROS h_gabaPathway - Gamma-aminobutyric Acid Receptor Life Cycle
Reactome (by CSHL, EBI, and GO)
Protein P48169 (Reactome details) participates in the following event(s):
R-HSA-8856398 NPTN binds GABA A receptors R-HSA-975340 GABR heteropentamers:GABA transport Cl- from extracellular region to cytosol R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission R-HSA-112315 Transmission across Chemical Synapses R-HSA-977441 GABA A receptor activation R-HSA-112316 Neuronal System R-HSA-977443 GABA receptor activation