• Gene id: 2558

Gene Summary

• Gene Symbol: GABRA5   Gene   UCSC   Ensembl
• Aliases: EIEE79
• Gene name: gamma-aminobutyric acid type A receptor subunit alpha5
• Alternate names: gamma-aminobutyric acid receptor subunit alpha-5, GABA(A) receptor subunit alpha-5, gamma-aminobutyric acid (GABA) A receptor, alpha 5, gamma-aminobutyric acid type A receptor alpha5 subunit,
• Gene location: 15q12 (26867061: 26949209)     Exons: 14     NC_000015.10
• Gene summary(Entrez): 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 GA
• OMIM: 137142

Protein Summary

• Protein general information: P31644  
  • Name: Gamma aminobutyric acid receptor subunit alpha 5 (GABA(A) receptor subunit alpha 5)
  • Length: 462  
  • Mass: 52146
• Sequence:

  MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQV
  RTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPN
  KLLRLEDDGTLLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQY
  HLMGQTVGTENISTSTGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTM
  TTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTN
  AFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLN
  REPVIKGAASPK

• Structural information:
  • Interpro: IPR006028  IPR001390  IPR005435  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 5O8F 5OJM 6A96
  • PDBsum: 5O8F 5OJM 6A96
  • STRING: ENSP00000335592
• Other Databases: GeneCards:  GABRA5  Malacards:  GABRA5

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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	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:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0043235	receptor complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0001662	behavioral fear response	IEA	biological process
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0008306	associative learning	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	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
autistic disorder	PMID:20066485
Mental depression	PMID:9267853
Bipolar disorder	PMID:9514592
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq