• Gene id: 2560

Gene Summary

• Gene Symbol: GABRB1   Gene   UCSC   Ensembl
• Aliases: EIEE45
• Gene name: gamma-aminobutyric acid type A receptor subunit beta1
• Alternate names: gamma-aminobutyric acid receptor subunit beta-1, gamma-aminobutyric acid (GABA) A receptor, beta 1, gamma-aminobutyric acid type A receptor beta1 subunit,
• Gene location: 4p12 (46993559: 47438408)     Exons: 13     NC_000004.12
• Gene summary(Entrez): The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 i
• OMIM: 137190

Protein Summary

• Protein general information: P18505  
  • Name: Gamma aminobutyric acid receptor subunit beta 1 (GABA(A) receptor subunit beta 1)
  • Length: 474  
  • Mass: 54235
• Sequence:

  MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVASIDMV
  SEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVL
  YGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEF
  TTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI
  PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIR
  NETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSID
  KWSRMFFPITFSLFNVVYWLYYVH

• Structural information:
  • Interpro: IPR006028  IPR002289  IPR006202  IPR036734  IPR006201   IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000295454
• Other Databases: GeneCards:  GABRB1  Malacards:  GABRB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:1902711	GABA-A receptor complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015276	ligand-gated ion channel activity	ISS	molecular function
GO:0004890	GABA-A receptor activity	ISS	molecular function
GO:0071420	cellular response to histamine	ISS	biological process
GO:0022851	GABA-gated chloride ion channel activity	IMP	molecular function
GO:1902711	GABA-A receptor complex	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006811	ion transport	ISS	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	IMP	biological process
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:1902711	GABA-A receptor complex	IEA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005253	anion channel activity	IEA	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0032570	response to progesterone	IEA	biological process
GO:0042698	ovulation cycle	IEA	biological process
GO:0043235	receptor complex	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0071420	cellular response to histamine	IEA	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic 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
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
autistic disorder	PMID:20066485
autistic disorder	PMID:16770606
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)