• Gene id: 2565

Gene Summary

• Gene Symbol: GABRG1   Gene   UCSC   Ensembl
• Gene name: gamma-aminobutyric acid type A receptor subunit gamma1
• Alternate names: gamma-aminobutyric acid receptor subunit gamma-1, GABA(A) receptor subunit gamma-1, GABA(A) receptor, gamma, gamma-1 polypeptide, gamma-aminobutyric acid (GABA) A receptor, gamma 1, gamma-aminobutyric acid type A receptor gamma1 subunit,
• Gene location: 4p12 (46124053: 46035768)     Exons: 6     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride ch
• OMIM: 137166

Protein Summary

• Protein general information: Q8N1C3  
  • Name: Gamma aminobutyric acid receptor subunit gamma 1 (GABA(A) receptor subunit gamma 1)
  • Length: 465  
  • Mass: 53595
• Sequence:

  MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIHEGDITQILNSLLQGY
  DNKLRPDIGVRPTVIETDVYVNSIGPVDPINMEYTIDIIFAQTWFDSRLKFNSTMKVLMLNSNMVGKIWIPDTFF
  RNSRKSDAHWITTPNRLLRIWNDGRVLYTLRLTINAECYLQLHNFPMDEHSCPLEFSSYGYPKNEIEYKWKKPSV
  EVADPKYWRLYQFAFVGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVP
  ARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSNQKGKTATKDRKLKNK
  ASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFEDCRTGSWREGRIHIRIAKIDSYSRIFFPTA
  FALFNLVYWVGYLYL

• Structural information:
  • Interpro: IPR006028  IPR005438  IPR005437  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000295452
• Other Databases: GeneCards:  GABRG1  Malacards:  GABRG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0098794	postsynapse	IBA	cellular component
GO:0060078	regulation of postsynaptic membrane potential	IBA	biological process
GO:0051932	synaptic transmission, GABAergic	IBA	biological process
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0022851	GABA-gated chloride ion channel activity	IBA	molecular function
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:1902711	GABA-A receptor complex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0032590	dendrite membrane	IBA	cellular component
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0008503	benzodiazepine receptor activity	IBA	contributes to
GO:0007214	gamma-aminobutyric acid signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005254	chloride channel activity	IBA	contributes to
GO:0005237	inhibitory extracellular ligand-gated ion channel activity	IBA	molecular function
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:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0043235	receptor complex	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R