AutismKB 2.0

Annotation Details for GABRA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRA1 ( ECA4,EJM,EJM5 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 1
Band: 5q34
Quick LinksEntrez ID:2554; OMIM: 137160; Uniprot ID:GBRA1_HUMAN; ENSEMBL ID: ENSG00000022355; HGNC ID: 4075
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887ISS-integral component of plasma membrane-
GO:0030054IEA-cell junction-
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:1902710ISS-GABA receptor complex-
GO:1902711IDA-GABA-A receptor complex9039914
GO ID Evidence Qualifier GO_term References
GO:0004890IBAcontributes_toGABA-A receptor activity-
GO:0008144ISS-drug binding-
GO:0016917ISScontributes_toGABA receptor activity-
GO:0022851IDA-GABA-gated chloride ion channel activity9039914
GO:1904315IEA-transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport2465923
GO:0007214IEA-gamma-aminobutyric acid signaling pathway-
GO:0034220TAS-ion transmembrane transport-
GO:0051932ISS-synaptic transmission, GABAergic-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0071420IEA-cellular response to histamine-
GO:1902476IDA-chloride transmembrane transport9039914
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PRKCDGABRA111156612091471 Affinity Capture-Western
PRKCDGABRA110882812091471 Affinity Capture-Western
PRKCGGABRA110882812091471 Affinity Capture-Western
PRKCGGABRA111156812091471 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
GABRA1GABRA1_371-181A/G, GABRA1_371-471C/T, GABRA1_74 + 9A/T, GABRA1_SA1-3 C/T, rs10056305, rs10064326, rs1037715, rs1129647, rs1157122, rs11575999, rs11745164, rs11948168, rs12658807, rs12658835, rs12659175, rs13171845, rs1350376, rs2279020, rs2290733, rs4254937, rs4260711, rs4311459, rs4340950, rs4367330, rs4464735, rs4478357, rs4605831, rs4608967, rs4632839, rs6862670, rs6873785, rs998754 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:95613
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-061013-194'