Gene Report

Basic Information

Approved Symbol	GABRA1
Approved Name	gamma-aminobutyric acid (GABA) A receptor, alpha 1
Symbol Alias	EJM5
Name Alias	GABA(A) receptor, alpha 1
Location	5q34
Position	chr5:161274197-161326965 (+)
External Links	Entrez Gene: 2554 Ensembl: ENSG00000022355 UCSC: uc010jja.3 HGNC ID: 4075
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Positive relationships between GABRA1 and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
GABRA1	Sequeira, 2007	patients and normal controls		Selected differentially expressed genes in BA24 Selected differentially expressed genes in BA24

Positive relationships between GABRA1 and other components at different levels (count: 1)

Genetic/epigenetic locus					Protein and other molecule			Cell and molecular pathway			Neural system			Cognition and behavior		Symptoms and signs			Environment

Name in Literature	Level	Approved Name (Name in Literature)	Type	Reference	Research Type	Statistical Result	Relation Description	All
Name in Literature	Related Components
GABRA1		Brodmann area 24(BA 24)	brain morphology and function	Sequeira, 2007	patients and normal controls		Selected differentially expressed genes in BA24 Selected differentially expressed genes in BA24

Positive relationship network of GABRA1 in MK4MDD

Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between GABRA1 and MDD (count: 0)

Negative relationships between GABRA1 and other components at different levels (count: 0)

GABRA1 related SNPs in MK4MDD (count: 0)

GABRA1 related proteins in MK4MDD (count: 1)

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
Gamma-aminobutyric acid receptor subunit alpha-1	P14867	0(0/0)	Gene mapped

GABRA1 related GO terms (count: 16)

ID	Name	Type	Evidence
Literature-origin GO terms
GO:0045211	postsynaptic membrane	cellular component	IEA
GO:0030054	cell junction	cellular component	IEA
GO:0007268	synaptic transmission	biological process	TAS

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0016917	GABA receptor activity	molecular function	ISS
GO:0008144	drug binding	molecular function	ISS
GO:0051932	synaptic transmission, GABAergic	biological process	ISS
GO:0006810	transport	biological process	TAS[2465923]
GO:0005254	chloride channel activity	molecular function	IEA
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA
GO:0005886	plasma membrane	cellular component	TAS
GO:0005230	extracellular ligand-gated ion channel activity	molecular function	IEA
GO:0055085	transmembrane transport	biological process	TAS
GO:0034220	ion transmembrane transport	biological process	TAS
GO:0004890	GABA-A receptor activity	molecular function	IEA
GO:0034707	chloride channel complex	cellular component	IEA
GO:0005887	integral to plasma membrane	cellular component	ISS

GABRA1 related KEGG pathways (count: 1)

Gene mapped KEGG pathways
ID	Name	Brief Description	Full Description
hsa04080	neuroactive ligand_receptor_interaction	Neuroactive ligand-receptor interaction

GABRA1 related BioCarta pathways (count: 1)

ID	Name	Brief Description	Full Description
Gene mapped BioCarta pathways
GABA_PATHWAY	gaba pathway	Gamma-aminobutyric Acid Receptor Life Cycle	Gamma-amino butyric acid (GABA) is an inhibitory neurotransm...... Gamma-amino butyric acid (GABA) is an inhibitory neurotransmitter that acts at synapses through binding to ligand-gated ion channels, the GABA receptors. Clustering of the GABA-A receptor chloride channel alters receptor pharmacology on the cell surface and reduced clustering of the GABA receptor is associated with anxiety. GABA-A interacts with several proteins that modulate its clustering, endocytosis, and recycling or degradation. Plic-1 is a ubiquitin-like protein that binds to GABA-A receptors and causes them to accumulate at inhibitory synapses. Gephyrin interacts with the cytoplasmic domain of GABA-A, and with microtubules, bringing receptors together in plasma microdomains. Curiously, Gephyrin appears to be a bifunctional protein, with a domain involved in molybdenum metabolism. Another protein interacting with the GABA-A receptor is GABARAP, a microtubule-associated protein. Anchoring of the GABA-A receptor to GABARAP helps to cluster the receptor at the synaptic termini and to mediate fast synaptic transmission. GABARAP may mediate interaction of gephyrin with the GABA-A receptor and gephyrin may stabilize clusters by forming multimeric structures. GABARAP and gephyrin may play more of a role in receptor sorting and transport to the cell surface than in anchoring to the cytoplasm, since at inhibitory synapses GABARAP appears to associated with transport vesicles rather than the cell surface. The association of GABARAP with NSF (N-ethyl maleimide sensitive factor), a protein involved in intracellular vesicle transport, supports this hypothesis. More...

GABRA1 related Reactome pathways (count: 0)

GABRA1 related interactors from protein-protein interaction data in HPRD (count: 4)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
GABRA1	PRKCG	No	in vivo	12091471
GABRA1	PRKCD	No	in vivo	12091471
GABRA1	PPP3CA	No	in vitro	12574411
GABRA1	DRD4	Yes	in vitro	10050966

Gene Report

Literature-origin GO terms

Gene mapped GO terms

Gene mapped KEGG pathways

Gene mapped BioCarta pathways