GenTIGS

Glycine receptor alpha 1 (GLRA1) Associated conditions: 1. Hereditary hyperekplexia 2. Hyperekplexia 1

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000171.4	NP_000162.2	NC_000005.10	(151822512..151924850, complement)	Reference GRCh38.p14 Primary Assembly	P23415
2	REVIEWED	NM_001146040.2	NP_001139512.1	NC_000005.10	(151822512..151924850, complement)	Reference GRCh38.p14 Primary Assembly	P23415
3	REVIEWED	NM_001292000.2	NP_001278929.1	NC_000005.10	(151822512..151924850, complement)	Reference GRCh38.p14 Primary Assembly	P23415

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1145 reference articles

Variant Information Glycine receptor alpha 1 (GLRA1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Glycine receptor alpha 1 (GLRA1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	acts_upstream_of_or_within	startle response	Process	8298642
2	Homo sapiens	IMP	involved_in	startle response	Process	8298642 11973623
3	Homo sapiens	IEA	enables	transmembrane signaling receptor activity	Function	-
4	Homo sapiens	IEA	enables	monoatomic ion channel activity	Function	-
5	Homo sapiens	IEA	enables	extracellular ligand-gated monoatomic ion channel activity	Function	-
6	Homo sapiens	IBA	enables	excitatory extracellular ligand-gated monoatomic ion channel activity	Function	-
7	Homo sapiens	IEA	enables	chloride channel activity	Function	-
8	Homo sapiens	IPI	enables	protein binding	Function	11929858 32296183 35526563
9	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
10	Homo sapiens	IDA	located_in	plasma membrane	Component	2155780 7506679 16144831
11	Homo sapiens	IEA	located_in	plasma membrane	Component	-
12	Homo sapiens	IMP	located_in	plasma membrane	Component	11973623
13	Homo sapiens	TAS	located_in	plasma membrane	Component	-
14	Homo sapiens	IDA	involved_in	monoatomic ion transport	Process	2155780
15	Homo sapiens	IEA	involved_in	monoatomic ion transport	Process	-
16	Homo sapiens	IDA	involved_in	chloride transport	Process	8137830
17	Homo sapiens	IEA	involved_in	chloride transport	Process	-
18	Homo sapiens	IMP	involved_in	muscle contraction	Process	11973623
19	Homo sapiens	IDA	involved_in	neuropeptide signaling pathway	Process	2155780
20	Homo sapiens	IMP	enables	zinc ion binding	Function	16144831
21	Homo sapiens	IEA	located_in	external side of plasma membrane	Component	-
22	Homo sapiens	IEA	located_in	membrane	Component	-
23	Homo sapiens	NAS	located_in	membrane	Component	15952785
24	Homo sapiens	IDA	enables	glycine binding	Function	2155780 7920629 8717357 15748848
25	Homo sapiens	IEA	enables	glycine binding	Function	-
26	Homo sapiens	IDA	enables	extracellularly glycine-gated chloride channel activity	Function	2155780 8137830 16144831
27	Homo sapiens	IEA	enables	extracellularly glycine-gated chloride channel activity	Function	-
28	Homo sapiens	IMP	enables	extracellularly glycine-gated chloride channel activity	Function	7920629
29	Homo sapiens	IEA	enables	transmitter-gated monoatomic ion channel activity	Function	-
30	Homo sapiens	IEA	located_in	dendrite	Component	-
31	Homo sapiens	IDA	enables	taurine binding	Function	15748848
32	Homo sapiens	IEA	involved_in	monoatomic ion transmembrane transport	Process	-
33	Homo sapiens	IEA	part_of	chloride channel complex	Component	-
34	Homo sapiens	IMP	acts_upstream_of_or_within	regulation of membrane potential	Process	7920629
35	Homo sapiens	IPI	enables	identical protein binding	Function	23994010
36	Homo sapiens	IEA	located_in	neuron projection	Component	-
37	Homo sapiens	ISS	located_in	neuron projection	Component	-
38	Homo sapiens	IEA	located_in	neuronal cell body	Component	-
39	Homo sapiens	ISS	located_in	neuronal cell body	Component	-
40	Homo sapiens	IEA	located_in	perikaryon	Component	-
41	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	7506679
42	Homo sapiens	IEA	located_in	synapse	Component	-
43	Homo sapiens	ISS	located_in	synapse	Component	-
44	Homo sapiens	IEA	located_in	postsynaptic membrane	Component	-
45	Homo sapiens	IEA	enables	metal ion binding	Function	-
46	Homo sapiens	IMP	involved_in	negative regulation of transmission of nerve impulse	Process	11973623
47	Homo sapiens	ISS	involved_in	synaptic transmission, glycinergic	Process	-
48	Homo sapiens	IEA	located_in	inhibitory synapse	Component	-
49	Homo sapiens	IEA	involved_in	excitatory postsynaptic potential	Process	-
50	Homo sapiens	ISS	involved_in	inhibitory postsynaptic potential	Process	-
51	Homo sapiens	IDA	involved_in	cellular response to amino acid stimulus	Process	16144831
52	Homo sapiens	IDA	involved_in	cellular response to zinc ion	Process	16144831
53	Homo sapiens	IDA	involved_in	cellular response to ethanol	Process	25973519
54	Homo sapiens	IEA	involved_in	response to alcohol	Process	-
55	Homo sapiens	ISS	involved_in	response to alcohol	Process	-
56	Homo sapiens	IBA	is_active_in	glycinergic synapse	Component	-
57	Homo sapiens	IEA	is_active_in	glycinergic synapse	Component	-
58	Homo sapiens	NAS	located_in	glycinergic synapse	Component	35526563
59	Homo sapiens	IEA	involved_in	regulation of presynaptic membrane potential	Process	-
60	Homo sapiens	IDA	enables	ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	Function	8137830
61	Homo sapiens	IMP	enables	ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	Function	8137830
62	Homo sapiens	NAS	enables	ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	Function	8137830
63	Homo sapiens	IBA	involved_in	chloride transmembrane transport	Process	-
64	Homo sapiens	IDA	involved_in	chloride transmembrane transport	Process	16144831
65	Homo sapiens	NAS	involved_in	chloride transmembrane transport	Process	35526563
66	Homo sapiens	IEA	enables	transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	Function	-
67	Homo sapiens	IMP	involved_in	positive regulation of acrosome reaction	Process	11751269