Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2741
Gene name Gene Name - the full gene name approved by the HGNC.	Glycine receptor alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GLRA1
Synonyms (NCBI Gene) Gene synonyms aliases	HKPX1, STHE
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HKPX1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918410	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121918418	G>T	Pathogenic	Stop gained, coding sequence variant
rs281864913	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs281864919	C>T	Pathogenic	Missense variant, coding sequence variant
rs281864921	A>-	Pathogenic	Coding sequence variant, stop gained
rs1064795797	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797316	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1181626947	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(6)

miRTarBase ID	miRNA	Experiments
MIRT2002633	hsa-miR-25	CLIP-seq
MIRT2002634	hsa-miR-32	CLIP-seq
MIRT2002635	hsa-miR-363	CLIP-seq
MIRT2002636	hsa-miR-367	CLIP-seq
MIRT2002637	hsa-miR-92a	CLIP-seq
MIRT2002638	hsa-miR-92b	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
REST	Activation	12944912

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001964	Process	Startle response	IMP	8298642, 11973623
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11929858, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	2155780, 7506679, 16144831
GO:0005887	Component	Integral component of plasma membrane	IMP	11973623
GO:0006811	Process	Ion transport	IDA	2155780
GO:0006821	Process	Chloride transport	IDA	8137830
GO:0006936	Process	Muscle contraction	IMP	11973623
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007218	Process	Neuropeptide signaling pathway	IBA	21873635
GO:0007218	Process	Neuropeptide signaling pathway	IDA	2155780
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	TAS
GO:0007340	Process	Acrosome reaction	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008270	Function	Zinc ion binding	IMP	16144831
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016021	Component	Integral component of membrane	NAS	15952785
GO:0016594	Function	Glycine binding	IDA	2155780, 7920629, 8717357, 15748848
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IBA	21873635
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IDA	2155780, 8137830, 16144831
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IGI	8717357
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IMP	7920629
GO:0030425	Component	Dendrite	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0030977	Function	Taurine binding	IDA	15748848
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0034707	Component	Chloride channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IMP	7920629
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043200	Process	Response to amino acid	IBA	21873635
GO:0043204	Component	Perikaryon	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	7506679
GO:0044305	Component	Calyx of Held	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IBA	21873635
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IBA	21873635
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0051970	Process	Negative regulation of transmission of nerve impulse	IMP	11973623
GO:0060012	Process	Synaptic transmission, glycinergic	IBA	21873635
GO:0060012	Process	Synaptic transmission, glycinergic	ISS
GO:0060013	Process	Righting reflex	IEA
GO:0060077	Component	Inhibitory synapse	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	16144831
GO:0071294	Process	Cellular response to zinc ion	IDA	16144831
GO:0071361	Process	Cellular response to ethanol	IDA	25973519
GO:0097305	Process	Response to alcohol	ISS
GO:0098690	Component	Glycinergic synapse	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IDA	16144831
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:2000344	Process	Positive regulation of acrosome reaction	IMP	11751269

MIM	HGNC	e!Ensembl
138491	4326	ENSG00000145888

Protein

UniProt ID

P23415

Protein name

Glycine receptor subunit alpha-1 (Glycine receptor 48 kDa subunit) (Glycine receptor strychnine-binding subunit)

Protein function

Subunit of heteromeric glycine-gated chloride channels (PubMed:14551753, PubMed:23994010, PubMed:25730860, PubMed:37821459). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to

PDB

1MOT , 1VRY , 2M6B , 2M6I , 4X5T , 8DN2 , 8DN3 , 8DN4 , 8DN5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	38 → 248	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	255 → 405	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNF
KGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDS
IWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTC
IMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA
SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLF
QEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ

Sequence length

457

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Neurotransmitter receptors and postsynaptic signal transmission

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	1352015, 27843043
Dystonia	Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440 View all (136 more)	17114051
Hereditary hyperekplexia	Hereditary hyperekplexia	rs121918408, rs121918410, rs281864915, rs121918415, rs121918418, rs281864914, rs281864916, rs281864921, rs281864919, rs281864918, rs199547699, rs760390019, rs1554083576, rs1468001309
Hyperekplexia	Hereditary Hyperexplexia, HYPEREKPLEXIA 1	rs121908493, rs281864924, rs121908495, rs121908496, rs121908497, rs121909749, rs281864922, rs121918408, rs121918409, rs121918410, rs121918411, rs121918412, rs121918413, rs281864915, rs121918415 View all (33 more)	28138086, 25036534, 10514101, 7925268, 7518444, 19732286, 7881416, 28122427, 7981700, 1352015, 8298642, 8733061, 24108130, 25730860, 12169101 View all (9 more)
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nocturnal epilepsy	Nocturnal epilepsy	rs74315291, rs121909580, rs28931591, rs104894063, rs397515405, rs397515406, rs397515407, rs281865067, rs281865070, rs397518459, rs201740530, rs886037653, rs587777264, rs797044544, rs1554771469 View all (3 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Hereditary Hyperekplexia	hereditary hyperekplexia		GenCC
Diabetes	Diabetes		GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
Channelopathies	Associate	15066993
Chromosome 5q Deletion Syndrome	Inhibit	18508791
Genetic Diseases Inborn	Associate	9920650
Head and Neck Neoplasms	Associate	8651283
Hyperekplexia	Associate	11395484, 15066993, 20631190, 21835920, 24108130, 24969041, 25036534, 25356525, 27028707, 28985719, 29602144, 30866851, 31757808, 32332682, 32844405, 33842008, 8651283, 8733061, 9920650 View all (4 more)
Hyperekplexia	Stimulate	1334371
Hyperexplexia hereditary	Associate	21835920, 23238346, 27028707, 30866851, 7775436, 9009272, 9920650
Menopause Premature	Associate	33860118
Muscle Hypertonia	Associate	25036534, 32332682
Muscle Neoplasms	Associate	27028707
Neurologic Manifestations	Associate	11395484, 9920650
Paraparesis Spastic	Associate	8733061
Renal Insufficiency	Associate	24969041
Schizophrenia Disorganized	Associate	28758885
Seizures	Associate	27028707
Stiff Person Syndrome	Stimulate	1334371
Stiff Person Syndrome	Associate	23090334, 24969041, 25036534, 27028707, 28985719, 31392847, 32332682, 32844405, 8651283, 9009272, 9920650
Tremor	Associate	27028707
Tremor	Stimulate	27028707

GLRA1 (glycine receptor alpha 1)