• Gene id: 2554

Gene Summary

• Gene Symbol: GABRA1   Gene   UCSC   Ensembl
• Aliases: ECA4, EIEE19, EJM, EJM5
• Gene name: gamma-aminobutyric acid type A receptor subunit alpha1
• Alternate names: gamma-aminobutyric acid receptor subunit alpha-1, GABA(A) receptor subunit alpha-1, GABA(A) receptor, alpha 1, gamma-aminobutyric acid (GABA) A receptor, alpha 1, gamma-aminobutyric acid type A receptor alpha1 subunit,
• Gene location: 5q34 (161847190: 161899970)     Exons: 13     NC_000005.10
• Gene summary(Entrez): This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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 mo
• OMIM: 312420

Protein Summary

• Protein general information: P14867  
  • Name: Gamma aminobutyric acid receptor subunit alpha 1 (GABA(A) receptor subunit alpha 1)
  • Length: 456  
  • Mass: 51802
• Sequence:

  MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKTDIFVT
  SFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITE
  DGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTV
  DSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
  RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDPLIKKNNTYAPTATSY
  TPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKIDRLSRIAFPLLFGIFNLVYWATYLNREPQLK
  APTPHQ

• Structural information:
  • Interpro: IPR006028  IPR001390  IPR005431  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 6CDU 6D1S 6D6T 6D6U 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • PDBsum: 6CDU 6D1S 6D6T 6D6U 6HUG 6HUJ 6HUK 6HUO 6HUP 6I53
  • STRING: ENSP00000393097
• Other Databases: GeneCards:  GABRA1  Malacards:  GABRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005237	inhibitory extracellular ligand-gated ion channel activity	IBA	molecular function
GO:0005254	chloride channel activity	IBA	contributes to
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	IBA	biological process
GO:0008503	benzodiazepine receptor activity	IBA	contributes to
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0032590	dendrite membrane	IBA	cellular component
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:1902711	GABA-A receptor complex	IBA	cellular component
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:0007165	signal transduction	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0051932	synaptic transmission, GABAergic	IBA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IBA	biological process
GO:0098794	postsynapse	IBA	cellular component
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:1904862	inhibitory synapse assembly	IDA	biological process
GO:1904862	inhibitory synapse assembly	IDA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IDA	contributes to
GO:1902711	GABA-A receptor complex	IDA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0004890	GABA-A receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IEA	molecular function
GO:0071420	cellular response to histamine	IEA	biological process
GO:0051932	synaptic transmission, GABAergic	IEA	biological process
GO:0016917	GABA receptor activity	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902710	GABA receptor complex	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016917	GABA receptor activity	ISS	contributes to
GO:0008144	drug binding	ISS	molecular function
GO:0051932	synaptic transmission, GABAergic	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:1902710	GABA receptor complex	ISS	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0022851	GABA-gated chloride ion channel activity	IDA	molecular function
GO:1902711	GABA-A receptor complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04742	Taste transduction
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Childhood absence epilepsy	KEGG:H02215
Early infantile epileptic encephalopathy	KEGG:H00606
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Childhood absence epilepsy	KEGG:H02215
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881