{ "uniprot_canonical_ac": "O14764-1", "uniprot_ac": "O14764", "uniprot_id": "GBRD_HUMAN", "mass": { "chemical_mass": 50708.0, "monoisotopic_mass": 50708.0 }, "refseq": { "ac": "NP_000806", "name": "gamma-aminobutyric acid receptor subunit delta 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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, "gene_names": [ { "name": "GABRD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14764", "id": "O14764" }, { "name": "EIG10; EJM7; GABAARdelta; GEFSP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806", "id": "NP_000806" }, { "name": "GABRD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806", "id": "NP_000806" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor subunit delta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14764" }, { "name": "GABA(A) receptor subunit delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14764" }, { "name": "gamma-aminobutyric acid receptor subunit delta precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806", "id": "NP_000806" }, { "name": "gamma-aminobutyric acid receptor subunit delta; GABA-A receptor, delta polypeptide; GABA(A) receptor subunit delta; GABA(A) receptor, delta; gamma-aminobutyric acid (GABA) A receptor, delta; gamma-aminobutyric acid type A receptor delta subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806", "id": "NP_000806" } ], "function": [ { "annotation": "Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, { "database": "PubMed", "id": "36804572", "url": "https://glygen.org/publication/PubMed/36804572" } ] }, { "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": "O14764", "url": "https://www.uniprot.org/uniprot/O14764#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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, { "database": "PubMed", "id": "16023832", "url": "https://glygen.org/publication/PubMed/16023832" } ] }, { "annotation": "Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, { "database": "PubMed", "id": "36614162", "url": "https://glygen.org/publication/PubMed/36614162" } ] }, { "annotation": "The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, { "database": "PubMed", "id": "36923530", "url": "https://glygen.org/publication/PubMed/36923530" } ] }, { "annotation": "Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" }, { "database": "PubMed", "id": "37129290", "url": "https://glygen.org/publication/PubMed/37129290" } ] } ], "disease": [ { "disease_id": "DOID:0111292", "recommended_name": { "id": "DOID:0111292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111292", "name": "idiopathic generalized epilepsy 10", "description": "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33." }, "synonyms": [ 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14764" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM", "length": 452, "header": "sp|O14764-1|GBRD_HUMAN Isoform 1 of Gamma-aminobutyric acid receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=2 CANONICAL=O14764-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PP88-1", "url": "", "sequence": { "sequence": "XVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGTGPRRCSEGAGRAALGNRTPHPSAGGSALASGPCQLSWGSGQPGQARHHHGADDDHAHGQCPLLPATGISHQGTGRLLLDLLCLRVCRPGGVRLCSFQRRL", "length": 320, "header": "tr|A0A1W2PP88-1|A0A1W2PP88_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2029714, "end_pos": 2025346, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640981.1", "url": "https://www.ensembl.org/id/ENST00000640981.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491287.1", "url": "https://www.ensembl.org/id/ENSP00000491287.1" } ] } }, { "isoform_ac": "A0A1W2PPH3-1", "url": "", "sequence": { "sequence": "GTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM", "length": 380, "header": "tr|A0A1W2PPH3-1|A0A1W2PPH3_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030279, "end_pos": 2019484, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640030.1", "url": "https://www.ensembl.org/id/ENST00000640030.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491411.1", "url": "https://www.ensembl.org/id/ENSP00000491411.1" } ] } }, { "isoform_ac": "A0A1W2PPP1-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMVGATSLCLRHGVHHDGVPAPELAGQQALLQPHQRDPGSGQPLRGQAVAARHLHRERQVGLVPRRDGGEQAHPAAARRRDPVQHPNHLHCGLRHGPGQIPHGRAGVHAGPGELRLLIGGHRLLLVGEPGAHPRAGQAAAGAVHHHQLPLHHGADELQVRWPVPTAQPALPPAEEPRRVHHPILHALRPAGRHVLGLLLDQPGGGARQGVSRHHHGADDDHAHGQCPLLPATGISHQGTGRLLLDLLCLRVCRPGGVRLCSFQRRLQEEAEGQGQGLQAEGRDGREERHCPLLPLCCRRHAGAGHLPPAAPRPG", "length": 395, "header": "tr|A0A1W2PPP1-1|A0A1W2PPP1_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=4 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030077, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638411.1", "url": "https://www.ensembl.org/id/ENST00000638411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491632.1", "url": "https://www.ensembl.org/id/ENSP00000491632.1" } ] } }, { "isoform_ac": "A0A1W2PQR3-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESCFLCGRSAPARAPGAGPGSAAHLCAFPPDGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM", "length": 480, "header": "tr|A0A1W2PQR3-1|A0A1W2PQR3_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030279, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640067.1", "url": "https://www.ensembl.org/id/ENST00000640067.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491844.1", "url": "https://www.ensembl.org/id/ENSP00000491844.1" } ] } }, { "isoform_ac": "A0A1W2PQT2-1", "url": "", "sequence": { "sequence": "EQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLVPAPPCHGHQPSRHWTSTSGSAMSSCLPPWWSTPLLISTPTTGRSRRPRSRSPGRGQRWT", "length": 168, "header": "tr|A0A1W2PQT2-1|A0A1W2PQT2_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=4 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2029989, "end_pos": 2027629, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638804.1", "url": "https://www.ensembl.org/id/ENST00000638804.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491871.1", "url": "https://www.ensembl.org/id/ENSP00000491871.1" } ] } }, { "isoform_ac": "A0A1W2PQZ5-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRRTGMTITTNWTA", "length": 35, "header": "tr|A0A1W2PQZ5-1|A0A1W2PQZ5_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=4 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2023833, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639045.1", "url": "https://www.ensembl.org/id/ENST00000639045.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491997.1", "url": "https://www.ensembl.org/id/ENSP00000491997.1" } ] } }, { "isoform_ac": "A0A1W2PR72-1", "url": "", "sequence": { "sequence": "XMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFNWPVPTAQPALPPAEEPRRVHHPIL", "length": 168, "header": "tr|A0A1W2PR72-1|A0A1W2PR72_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2029185, "end_pos": 2025526, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638763.1", "url": "https://www.ensembl.org/id/ENST00000638763.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492352.1", "url": "https://www.ensembl.org/id/ENSP00000492352.1" } ] } }, { "isoform_ac": "A0A1W2PRC4-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEVRAWGRARDSTAGGPNQDPSAAPAHCGSQLCSLSVGGWSCWSRRGPRMGTPVVQGPGSCTPVLSPVSPTGLRADGREERHCPLLPLCCRRHAGAGHLPPAAPRPGEPDGLLQVGGGGDRGDEEGGGSPLRRPGGHPCPAQAHRRRHH", "length": 500, "header": "tr|A0A1W2PRC4-1|GBRD_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030203, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638771.1", "url": "https://www.ensembl.org/id/ENST00000638771.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492435.1", "url": "https://www.ensembl.org/id/ENSP00000492435.1" } ] } }, { "isoform_ac": "A0A1W2PRY7-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM", "length": 429, "header": "tr|A0A1W2PRY7-1|A0A1W2PRY7_HUMAN Computationally mapped isoform of Gamma-aminobutyric acid type A receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=1 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030279, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640949.1", "url": "https://www.ensembl.org/id/ENST00000640949.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492500.1", "url": "https://www.ensembl.org/id/ENSP00000492500.1" } ] } }, { "isoform_ac": "O14764-1", "url": "", "sequence": { "sequence": "MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM", "length": 452, "header": "sp|O14764-1|GBRD_HUMAN Isoform 1 of Gamma-aminobutyric acid receptor subunit delta OS=Homo sapiens OX=9606 GN=GABRD PE=1 SV=2 CANONICAL=O14764-1" }, "locus": { "chromosome": "1", "start_pos": 2030279, "end_pos": 2019424, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378585.7", "url": "https://www.ensembl.org/id/ENST00000378585.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000367848.4", "url": "https://www.ensembl.org/id/ENSP00000367848.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "O14764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14764#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "O14764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14764#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 155, "start_aa": "Ser", "end_pos": 155, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser155", "evidence": [ { "id": "O14764", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14764" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 390, "end_pos": 390, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14764", "url": "https://www.uniprot.org/uniprot/O14764" } ], "site_lbl": "Ser390" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.", "journal": "Human molecular genetics", "date": "2004", "authors": "Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC", "evidence": [ { "database": "UniProtKB", "id": "O14764", "url": "https://www.uniprot.org/uniprot/O14764" } ], "reference": [ { "type": "PubMed", "id": "15115768", "url": "https://glygen.org/publication/PubMed/15115768" } ] }, { "title": "Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.", "journal": "Epilepsy research", "date": "2005", "authors": "Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" } ], "reference": [ { "type": "PubMed", "id": "16023832", "url": "https://glygen.org/publication/PubMed/16023832" } ] }, { "title": "Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.", "journal": "Human mutation", "date": "2017", "authors": "Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdo S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A, Guerrini R", "evidence": [ { "database": "UniProtKB", "id": "O14764", "url": "https://www.uniprot.org/uniprot/O14764" } ], "reference": [ { "type": "PubMed", "id": "27864847", "url": "https://glygen.org/publication/PubMed/27864847" } ] }, { "title": "MAGI2 mutations cause congenital nephrotic syndrome.", "journal": "J. Am. Soc. Nephrol.", "date": "2017", "authors": "Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA", "evidence": [ { "database": "UniProtKB", "id": "O14764", "url": "https://www.uniprot.org/uniprot/O14764" } ], "reference": [ { "type": "PubMed", "id": "27932480", "url": "https://glygen.org/publication/PubMed/27932480" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14764", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14764" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.", "journal": "International journal of molecular sciences", "date": "2022-12-31", "authors": "Lin Yen-Feng, Chou Wen-Hai, Liu Tung-Hsia, Fang Chiu-Ping, Kuo Hsiang-Wei, Kuo Po-Hsiu, Tsai Shih-Jen, Wang Sheng-Chang, Chung Ren-Hua, Tsou Hsiao-Hui, Chen Andrew C H, Liu Yu-Li", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" } ], "reference": [ { "type": "PubMed", "id": "36614162", "url": "https://glygen.org/publication/PubMed/36614162" } ] }, { "title": "Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.", "journal": "Neuroscience letters", "date": "2023-03-13", "authors": "Xie Xiaohu, Zhuang Dingding, Gu Jun, Wu Tingting, Shen Wenwen, Li Longhui, Liu Yue, Xu Wenjin, Hong Qingxiao, Xu Zemin, Chen Weisheng, Zhou Wenhua, Liu Huifen", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" } ], "reference": [ { "type": "PubMed", "id": "36804572", "url": "https://glygen.org/publication/PubMed/36804572" } ] }, { "title": "The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis.", "journal": "Theranostics", "date": "2023", "authors": "Li Na, Xu Xiang, Liu Dan, Gao Jiaxin, Gao Ying, Wu Xufeng, Sheng Huiming, Li Qun, Mi Jun", "evidence": [ { "database": "RefSeq", "id": "NP_000806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000806" } ], "reference": [ { "type": "PubMed", "id": "36923530", "url": "https://glygen.org/publication/PubMed/36923530" } ] }, { "title": "Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.", "journal": "American journal of medical genetics. 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