{ "uniprot_canonical_ac": "P48169-1", "uniprot_ac": "P48169", "uniprot_id": "GBRA4_HUMAN", "mass": { "chemical_mass": 61623.0, "monoisotopic_mass": 61623.0 }, "refseq": { "ac": "NP_000800", "name": "gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" }, "gene_names": [ { "name": "GABRA4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P48169", "id": "P48169" }, { "name": "GABRA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800", "id": "NP_000800" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit alpha-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P48169" }, { "name": "GABA(A) receptor subunit alpha-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P48169" }, { "name": "gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800", "id": "NP_000800" }, { "name": "gamma-aminobutyric acid receptor subunit alpha-4; GABA(A) receptor, alpha 4; gamma-aminobutyric acid A receptor alpha 4; gamma-aminobutyric acid (GABA) A receptor, alpha 4; gamma-aminobutyric acid type A receptor alpha4 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800", "id": "NP_000800" } ], "function": [ { "annotation": "A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" }, { "database": "PubMed", "id": "35152403", "url": "https://glygen.org/publication/PubMed/35152403" } ] }, { "annotation": "Further evidence of GABRA4 and TOP3B as autism susceptibility genes.", "evidence": [ { "database": "RefSeq", "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" }, { "database": "PubMed", "id": "32028044", "url": "https://glygen.org/publication/PubMed/32028044" } ] }, { "annotation": "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.", "evidence": [ { "database": "UniProtKB", "id": "P48169", "url": "https://www.uniprot.org/uniprot/P48169#function" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" } ] }, { "annotation": "Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" }, { "database": "PubMed", "id": "31690811", "url": "https://glygen.org/publication/PubMed/31690811" } ] }, { "annotation": "These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome .", "evidence": [ { "database": "RefSeq", "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800" }, { "database": "PubMed", "id": "29720720", "url": "https://glygen.org/publication/PubMed/29720720" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs748416536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748416536" }, { "id": "rs748416536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748416536" }, { "id": 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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P48169", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P48169" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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sapiens OX=9606 GN=GABRA4 PE=1 SV=1 CANONICAL=P48169-1" }, "locus": { "chromosome": "4", "start_pos": 46993424, "end_pos": 46992857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508560.5", "url": "https://www.ensembl.org/id/ENST00000508560.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425445.1", "url": "https://www.ensembl.org/id/ENSP00000425445.1" } ] } }, { "isoform_ac": "D6RB66-1", "url": "", "sequence": { "sequence": "MVSAKKVPAIALSAGVSFALLRFLCLAVWSCYRSEN", "length": 36, "header": "tr|D6RB66-1|GBRA4_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid receptor subunit alpha-4 OS=Homo sapiens OX=9606 GN=GABRA4 PE=1 SV=1 CANONICAL=P48169-1" }, "locus": { "chromosome": "4", "start_pos": 46993424, "end_pos": 46979077, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502874.1", "url": "https://www.ensembl.org/id/ENST00000502874.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424386.1", "url": "https://www.ensembl.org/id/ENSP00000424386.1" } ] } }, { "isoform_ac": "P48169-1", "url": "", "sequence": { "sequence": "MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM", "length": 554, "header": "sp|P48169-1|GBRA4_HUMAN Isoform 1 of Gamma-aminobutyric acid receptor subunit alpha-4 OS=Homo sapiens OX=9606 GN=GABRA4 PE=1 SV=2 CANONICAL=P48169-1" }, "locus": { "chromosome": "4", "start_pos": 46993424, "end_pos": 46928228, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264318.4", "url": "https://www.ensembl.org/id/ENST00000264318.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000264318.3", "url": "https://www.ensembl.org/id/ENSP00000264318.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 144, "start_aa": "Asn", "end_pos": 144, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn144", "evidence": [ { "id": "P48169", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48169#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "P48169", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48169#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "P48169", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48169#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48169" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Ser140" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48169" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ], "site_lbl": "Ser142" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "theta, a novel gamma-aminobutyric acid type A receptor subunit.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Bonnert TP, McKernan RM, Farrar S, le Bourdelles B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "10449790", "url": "https://glygen.org/publication/PubMed/10449790" } ] }, { "title": "Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Bailey ME, Albrecht BE, Johnson KJ, Darlison MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "10542332", "url": "https://glygen.org/publication/PubMed/10542332" } ] }, { "title": "Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.", "journal": "Genomics", "date": "1992", "authors": "Cutting GR, Curristin S, Zoghbi H, O'Hara B, Seldin MF, Uhl GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "1315307", "url": "https://glygen.org/publication/PubMed/1315307" } ] }, { "title": "Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit.", "journal": "Biochemical Society transactions", "date": "1992", "authors": "Wingrove P, Hadingham K, Wafford K, Kemp JA, Ragan CI, Whiting P", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "1321750", "url": "https://glygen.org/publication/PubMed/1321750" } ] }, { "title": "Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.", "journal": "American journal of human genetics", "date": "2004", "authors": "Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, Crowe RR, Goate A, Hesselbrock V, Jones K, Kwon J, Li TK, Nurnberger JI Jr, O'Connor SJ, Reich T, Rice J, Schuckit MA, Porjesz B, Foroud T, Begleiter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "15024690", "url": "https://glygen.org/publication/PubMed/15024690" } ] }, { "title": "The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.", "journal": "Genomics", "date": "1991", "authors": "Wagstaff J, Chaillet JR, Lalande M", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "1664410", "url": "https://glygen.org/publication/PubMed/1664410" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P48169", "url": "https://www.uniprot.org/uniprot/P48169" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "GABAA receptors: properties and trafficking.", "journal": "Critical reviews in biochemistry and molecular biology", "date": "2007", "authors": "Michels G, Moss SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "17364682", "url": "https://glygen.org/publication/PubMed/17364682" } ] }, { "title": "A single amino acid in the second transmembrane domain of GABA rho receptors regulates channel conductance.", "journal": "Neuroscience letters", "date": "2007", "authors": "Zhu Y, Ripps H, Qian H", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "17398006", "url": "https://glygen.org/publication/PubMed/17398006" } ] }, { "title": "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.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Tang LY, Deng N, Wang LS, Dai J, Wang ZL, Jiang XS, Li SJ, Li L, Sheng QH, Wu DQ, Li L, Zeng R", "evidence": [ { "database": "iPTMnet", "id": "P48169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48169" } ], "reference": [ { "type": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" } ] }, { "title": "GABA(A) receptor trafficking and its role in the dynamic modulation of neuronal inhibition.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Jacob TC, Moss SJ, Jurd R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "18382465", "url": "https://glygen.org/publication/PubMed/18382465" } ] }, { "title": "Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Cutting GR, Lu L, O'Hara BF, Kasch LM, Montrose-Rafizadeh C, Donovan DM, Shimada S, Antonarakis SE, Guggino WB, Uhl GR, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-977443", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977443" } ], "reference": [ { "type": "PubMed", "id": "1849271", "url": "https://glygen.org/publication/PubMed/1849271" } ] }, { "title": "Extrasynaptic GABAA receptors: form, 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