GLRB
entrez
2743
canonical
uniprot
P48167
canonical
ensembl
ENSG00000109738
resolver
ensp
ENSP00000264428
resolver
ensp
ENSP00000427186
resolver
ensp
ENSP00000441873
resolver
ensp
ENSP00000698225
resolver
ensp
ENSP00000796003
resolver
genesymbol
GLRB
resolver
hgnc
HGNC:4329
resolver
uniprot
A8K3K2
resolver
uniprot
D3DP23
resolver
uniprot
F5GWE1
resolver
uniprot_entry
GLRB_HUMAN
resolver
uniprot_sec
A8K3K2
resolver
uniprot_sec
D3DP23
resolver
uniprot_sec
F5GWE1
resolver
activity_regulation
ACTIVITY REGULATION: Channel opening is triggered by extracellular glycine (PubMed:34473954, PubMed:37821459). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). {ECO:0000269|PubMed:34473954, ECO:0000269|PubMed:37821459, ECO:0000269|PubMed:8717357}.
uniprot
proteins
amino_acid_sequence
MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNILNRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPSDFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSITLSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQLEKIALPQFDIKKEDIEYGNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIVVLSWLSFWINPDASAARVPLGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVVQVMLNNPKRVEAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDFSIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARALFPFCFLFFNVIYWSIYL
uniprot
proteins
disease_involvement
DISEASE: Hyperekplexia 2 (HKPX2) [MIM:614619]: A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:21391991, ECO:0000269|PubMed:23238346, ECO:0000269|PubMed:35526563}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of heteromeric glycine-gated chloride channels (PubMed:11929858, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:23238346, PubMed:25445488, PubMed:34473954, PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:22715885, ECO:0000269|PubMed:23238346, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:34473954, ECO:0000269|PubMed:8717357}.
uniprot
proteins
mass_dalton
56122
uniprot
proteins
mutagenesis
MUTAGEN 54; /note="N->A: Prevents proper assembly of the GLRA2/GLRB heteropentamer receptor."; /evidence="ECO:0000269|PubMed:34473954"; MUTAGEN 242; /note="N->A: Loss of glycosylation. Prevents proper assembly of the GLRA2/GLRB heteropentamer receptor."; /evidence="ECO:0000269|PubMed:34473954
uniprot
proteins
protein_family
GLRB sub-subfamily
uniprot
proteins
protein_family
Glycine receptor (TC 1.A.9.3) subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
11929858
uniprot
proteins
pubmed
12684523
uniprot
proteins
pubmed
14551753
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15028279
uniprot
proteins
pubmed
15302677
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16144831
uniprot
proteins
pubmed
21391991
uniprot
proteins
pubmed
22715885
uniprot
proteins
pubmed
22973015
uniprot
proteins
pubmed
23238346
uniprot
proteins
pubmed
25445488
uniprot
proteins
pubmed
26613940
uniprot
proteins
pubmed
34473954
uniprot
proteins
pubmed
35526563
uniprot
proteins
pubmed
37821459
uniprot
proteins
pubmed
8717357
uniprot
proteins
pubmed
9676428
uniprot
proteins
sequence_length
497
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:P48168}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Synapse {ECO:0000250|UniProtKB:P48168}. Cell projection, dendrite {ECO:0000250|UniProtKB:P48168}. Cell membrane {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:12684523, ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:22973015, ECO:0000269|PubMed:23238346, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:35526563, ECO:0000269|PubMed:8717357}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cytoplasm {ECO:0000269|PubMed:12684523, ECO:0000269|PubMed:35526563}. Note=Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed:12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. {ECO:0000250|UniProtKB:P20781, ECO:0000269|PubMed:12684523}.
uniprot
proteins
transmembrane_region
TRANSMEM 269..289; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:34473954, ECO:0007744|PDB:5BKF"; TRANSMEM 295..315; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:34473954, ECO:0007744|PDB:5BKF"; TRANSMEM 328..349; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:34473954, ECO:0007744|PDB:5BKF"; TRANSMEM 473..496; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:34473954, ECO:0007744|PDB:5BKF
uniprot
proteins