• Gene id: 2741

Gene Summary

• Gene Symbol: GLRA1   Gene   UCSC   Ensembl
• Aliases: HKPX1, STHE
• Gene name: glycine receptor alpha 1
• Alternate names: glycine receptor subunit alpha-1, glycine receptor 48 kDa subunit, glycine receptor strychnine-binding subunit,
• Gene location: 5q33.1 (151924850: 151822512)     Exons: 9     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekpl
• OMIM: 153430

Protein Summary

• Protein general information: P23415  
  • Name: Glycine receptor subunit alpha 1 (Glycine receptor 48 kDa subunit) (Glycine receptor strychnine binding subunit)
  • Length: 457  
  • Mass: 52624
• Sequence:

  MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINS
  FGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISR
  NGNVLYSIRITLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRY
  CTKHYNTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA
  SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLFQEDEAGEGRFNFSAY
  GMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVR
  REDVHNQ

• Structural information:
  • Interpro: IPR006028  IPR008127  IPR008128  IPR006202  IPR036734   IPR006201  IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • PDB: 1MOT 1VRY 2M6B 2M6I 4X5T
  • PDBsum: 1MOT 1VRY 2M6B 2M6I 4X5T
  • DIP: 48768
  • STRING: ENSP00000411593
• Other Databases: GeneCards:  GLRA1  Malacards:  GLRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0060012	synaptic transmission, glycinergic	IBA	biological process
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007218	neuropeptide signaling pathway	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0005254	chloride channel activity	IBA	contributes to
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0043200	response to amino acid	IBA	biological process
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:0016934	extracellularly glycine-gated chloride channel activity	IBA	contributes to
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0071230	cellular response to amino acid stimulus	IDA	biological process
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016934	extracellularly glycine-gated chloride channel activity	IDA	molecular function
GO:0071294	cellular response to zinc ion	IDA	biological process
GO:0071361	cellular response to ethanol	IDA	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0060012	synaptic transmission, glycinergic	ISS	biological process
GO:0008270	zinc ion binding	IMP	molecular function
GO:0045202	synapse	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0097305	response to alcohol	ISS	biological process
GO:0060080	inhibitory postsynaptic potential	ISS	biological process
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0016594	glycine binding	IEA	molecular function
GO:0022824	transmitter-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:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016934	extracellularly glycine-gated chloride channel activity	IEA	molecular function
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0034707	chloride channel complex	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016594	glycine binding	IDA	molecular function
GO:0016594	glycine binding	IDA	molecular function
GO:0001964	startle response	IMP	biological process
GO:0042391	regulation of membrane potential	IMP	biological process
GO:0016934	extracellularly glycine-gated chloride channel activity	IMP	molecular function
GO:0016934	extracellularly glycine-gated chloride channel activity	IGI	contributes to
GO:0005886	plasma membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001508	action potential	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016594	glycine binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0043576	regulation of respiratory gaseous exchange	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0060012	synaptic transmission, glycinergic	IEA	biological process
GO:0060013	righting reflex	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006820	anion transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0016594	glycine binding	IEA	molecular function
GO:0060012	synaptic transmission, glycinergic	IEA	biological process
GO:0007340	acrosome reaction	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016934	extracellularly glycine-gated chloride channel activity	IEA	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0060080	inhibitory postsynaptic potential	IEA	biological process
GO:0097305	response to alcohol	IEA	biological process
GO:0098690	glycinergic synapse	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016933	extracellularly glycine-gated ion channel activity	IEA	molecular function
GO:0016934	extracellularly glycine-gated chloride channel activity	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0044305	calyx of Held	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0098690	glycinergic synapse	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0016594	glycine binding	IDA	molecular function
GO:0016594	glycine binding	IDA	molecular function
GO:0007218	neuropeptide signaling pathway	IDA	biological process
GO:0016934	extracellularly glycine-gated chloride channel activity	IDA	molecular function
GO:0016934	extracellularly glycine-gated chloride channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0030977	taurine binding	IDA	molecular function
GO:0006821	chloride transport	IDA	biological process
GO:0006811	ion transport	IDA	biological process
GO:0001964	startle response	IMP	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006936	muscle contraction	IMP	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0051970	negative regulation of transmission of nerve impulse	IMP	biological process
GO:0001964	startle response	IMP	biological process
GO:2000344	positive regulation of acrosome reaction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Hyperekplexia	KEGG:H00769
Hyperekplexia	KEGG:H00769
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray