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Protein

Glycine receptor subunit beta

Gene

GLRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (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).7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei307Important for obstruction of the ion pore in the closed conformationBy similarity1

GO - Molecular functioni

GO - Biological processi

  • acrosome reaction Source: Ensembl
  • adult walking behavior Source: Ensembl
  • chemical synaptic transmission Source: UniProtKB
  • chloride transmembrane transport Source: UniProtKB
  • gamma-aminobutyric acid receptor clustering Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • ion transport Source: UniProtKB
  • nervous system development Source: UniProtKB
  • neuropeptide signaling pathway Source: UniProtKB
  • protein heterooligomerization Source: Ensembl
  • regulation of membrane potential Source: Ensembl
  • response to amino acid Source: GO_Central
  • righting reflex Source: Ensembl
  • startle response Source: UniProtKB
  • synaptic transmission, glycinergic Source: GO_Central
  • visual perception Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109738-MONOMER.
ReactomeiR-HSA-975298. Ligand-gated ion channel transport.
SIGNORiP48167.

Protein family/group databases

TCDBi1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycine receptor subunit beta
Alternative name(s):
Glycine receptor 58 kDa subunit
Gene namesi
Name:GLRB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:4329. GLRB.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 268ExtracellularBy similarityAdd BLAST246
Transmembranei269 – 290Helical; Name=1By similarityAdd BLAST22
Topological domaini291 – 295CytoplasmicBy similarity5
Transmembranei296 – 316Helical; Name=2By similarityAdd BLAST21
Topological domaini317 – 327ExtracellularBy similarityAdd BLAST11
Transmembranei328 – 348Helical; Name=3By similarityAdd BLAST21
Topological domaini349 – 475CytoplasmicBy similarityAdd BLAST127
Transmembranei476 – 496Helical; Name=4By similarityAdd BLAST21

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB-SubCell
  • dendrite Source: UniProtKB-SubCell
  • GABA-ergic synapse Source: Ensembl
  • glycine-gated chloride channel complex Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • plasma membrane Source: Reactome
  • postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Hyperekplexia 2 (HKPX2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614619
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068246199M → R in HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation; no effect on expression at the cell membrane. 2 PublicationsCorresponds to variant rs398122856dbSNPEnsembl.1
Natural variantiVAR_035070251G → D in HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation. 1 PublicationCorresponds to variant rs121909749dbSNPEnsembl.1
Natural variantiVAR_075502307L → R in HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and display spontaneous channel opening in the absence of extracellular glycine. 1 Publication1
Natural variantiVAR_075503332W → C in HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and reduced channel activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2743.
MalaCardsiGLRB.
MIMi614619. phenotype.
OpenTargetsiENSG00000109738.
Orphaneti3197. Hereditary hyperekplexia.
PharmGKBiPA28730.

Chemistry databases

ChEMBLiCHEMBL2363052.
DrugBankiDB00228. Enflurane.
DB00145. Glycine.
DB00431. Lindane.
GuidetoPHARMACOLOGYi427.

Polymorphism and mutation databases

BioMutaiGLRB.
DMDMi1346173.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22By similarityAdd BLAST22
ChainiPRO_000000042323 – 497Glycine receptor subunit betaAdd BLAST475

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi54N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi183 ↔ 197By similarity
Glycosylationi242N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi243 ↔ 255By similarity
Modified residuei391PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP48167.
PRIDEiP48167.

PTM databases

iPTMnetiP48167.
PhosphoSitePlusiP48167.

Expressioni

Gene expression databases

BgeeiENSG00000109738.
CleanExiHS_GLRB.
ExpressionAtlasiP48167. baseline and differential.
GenevisibleiP48167. HS.

Organism-specific databases

HPAiHPA052363.

Interactioni

Subunit structurei

Heteropentamer composed of GLRB and GLRA1 (PubMed:8717357, PubMed:14551753, PubMed:22973015, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentamer composed of GLRB and GLRA2 (PubMed:15302677, PubMed:16144831, PubMed:25445488). Heteropentamer composed of GLRB and GLRA3 (PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB subunits (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB subunits (PubMed:22973015). Interacts with GPHN (PubMed:12684523,PubMed:26613940).11 Publications

Protein-protein interaction databases

BioGridi109005. 12 interactors.
IntActiP48167. 1 interactor.
STRINGi9606.ENSP00000264428.

Structurei

3D structure databases

ProteinModelPortaliP48167.
SMRiP48167.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni247 – 253Strychnine-bindingBy similarity7

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3644. Eukaryota.
ENOG410XP43. LUCA.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231336.
HOVERGENiHBG051707.
InParanoidiP48167.
KOiK05196.
OMAiPRLKLPN.
OrthoDBiEOG091G0805.
PhylomeDBiP48167.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PTHR18945:SF29. PTHR18945:SF29. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48167-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKFLLTTAFL ILISLWVEEA YSKEKSSKKG KGKKKQYLCP SQQSAEDLAR
60 70 80 90 100
VPANSTSNIL NRLLVSYDPR IRPNFKGIPV DVVVNIFINS FGSIQETTMD
110 120 130 140 150
YRVNIFLRQK WNDPRLKLPS DFRGSDALTV DPTMYKCLWK PDLFFANEKS
160 170 180 190 200
ANFHDVTQEN ILLFIFRDGD VLVSMRLSIT LSCPLDLTLF PMDTQRCKMQ
210 220 230 240 250
LESFGYTTDD LRFIWQSGDP VQLEKIALPQ FDIKKEDIEY GNCTKYYKGT
260 270 280 290 300
GYYTCVEVIF TLRRQVGFYM MGVYAPTLLI VVLSWLSFWI NPDASAARVP
310 320 330 340 350
LGIFSVLSLA SECTTLAAEL PKVSYVKALD VWLIACLLFG FASLVEYAVV
360 370 380 390 400
QVMLNNPKRV EAEKARIAKA EQADGKGGNV AKKNTVNGTG TPVHISTLQV
410 420 430 440 450
GETRCKKVCT SKSDLRSNDF SIVGSLPRDF ELSNYDCYGK PIEVNNGLGK
460 470 480 490
SQAKNNKKPP PAKPVIPTAA KRIDLYARAL FPFCFLFFNV IYWSIYL
Length:497
Mass (Da):56,122
Last modified:February 1, 1996 - v1
Checksum:iC1F0B407601D3625
GO
Isoform 2 (identifier: P48167-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     303-303: I → W
     304-497: Missing.

Note: No experimental confirmation available.
Show »
Length:303
Mass (Da):34,944
Checksum:iD1CAB208A3C5B6C3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068246199M → R in HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation; no effect on expression at the cell membrane. 2 PublicationsCorresponds to variant rs398122856dbSNPEnsembl.1
Natural variantiVAR_035070251G → D in HKPX2; heteropentameric channel complexes with GLRA1 require much higher glycine levels for channel activation. 1 PublicationCorresponds to variant rs121909749dbSNPEnsembl.1
Natural variantiVAR_075502307L → R in HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and display spontaneous channel opening in the absence of extracellular glycine. 1 Publication1
Natural variantiVAR_075503332W → C in HKPX2; heteropentameric channel complexes with GLRA1 have reduced expression at the cell membrane and reduced channel activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045466303I → W in isoform 2. 1 Publication1
Alternative sequenceiVSP_045467304 – 497Missing in isoform 2. 1 PublicationAdd BLAST194

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U33267 mRNA. Translation: AAB37750.1.
AF094754 mRNA. Translation: AAC71033.1.
AF094755 mRNA. Translation: AAC71034.1.
CD013911 mRNA. No translation available.
AK290617 mRNA. Translation: BAF83306.1.
AC079403 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04872.1.
CH471056 Genomic DNA. Translation: EAX04873.1.
BC032635 mRNA. Translation: AAH32635.1.
CCDSiCCDS3796.1. [P48167-1]
CCDS54813.1. [P48167-2]
PIRiG02031.
RefSeqiNP_000815.1. NM_000824.4. [P48167-1]
NP_001159532.1. NM_001166060.1. [P48167-1]
NP_001159533.1. NM_001166061.1. [P48167-2]
XP_016863524.1. XM_017008035.1. [P48167-2]
UniGeneiHs.32973.

Genome annotation databases

EnsembliENST00000264428; ENSP00000264428; ENSG00000109738. [P48167-1]
ENST00000509282; ENSP00000427186; ENSG00000109738. [P48167-1]
ENST00000541722; ENSP00000441873; ENSG00000109738. [P48167-2]
GeneIDi2743.
KEGGihsa:2743.
UCSCiuc003ipj.3. human. [P48167-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U33267 mRNA. Translation: AAB37750.1.
AF094754 mRNA. Translation: AAC71033.1.
AF094755 mRNA. Translation: AAC71034.1.
CD013911 mRNA. No translation available.
AK290617 mRNA. Translation: BAF83306.1.
AC079403 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04872.1.
CH471056 Genomic DNA. Translation: EAX04873.1.
BC032635 mRNA. Translation: AAH32635.1.
CCDSiCCDS3796.1. [P48167-1]
CCDS54813.1. [P48167-2]
PIRiG02031.
RefSeqiNP_000815.1. NM_000824.4. [P48167-1]
NP_001159532.1. NM_001166060.1. [P48167-1]
NP_001159533.1. NM_001166061.1. [P48167-2]
XP_016863524.1. XM_017008035.1. [P48167-2]
UniGeneiHs.32973.

3D structure databases

ProteinModelPortaliP48167.
SMRiP48167.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109005. 12 interactors.
IntActiP48167. 1 interactor.
STRINGi9606.ENSP00000264428.

Chemistry databases

ChEMBLiCHEMBL2363052.
DrugBankiDB00228. Enflurane.
DB00145. Glycine.
DB00431. Lindane.
GuidetoPHARMACOLOGYi427.

Protein family/group databases

TCDBi1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

iPTMnetiP48167.
PhosphoSitePlusiP48167.

Polymorphism and mutation databases

BioMutaiGLRB.
DMDMi1346173.

Proteomic databases

PaxDbiP48167.
PRIDEiP48167.

Protocols and materials databases

DNASUi2743.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264428; ENSP00000264428; ENSG00000109738. [P48167-1]
ENST00000509282; ENSP00000427186; ENSG00000109738. [P48167-1]
ENST00000541722; ENSP00000441873; ENSG00000109738. [P48167-2]
GeneIDi2743.
KEGGihsa:2743.
UCSCiuc003ipj.3. human. [P48167-1]

Organism-specific databases

CTDi2743.
DisGeNETi2743.
GeneCardsiGLRB.
GeneReviewsiGLRB.
HGNCiHGNC:4329. GLRB.
HPAiHPA052363.
MalaCardsiGLRB.
MIMi138492. gene.
614619. phenotype.
neXtProtiNX_P48167.
OpenTargetsiENSG00000109738.
Orphaneti3197. Hereditary hyperekplexia.
PharmGKBiPA28730.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3644. Eukaryota.
ENOG410XP43. LUCA.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231336.
HOVERGENiHBG051707.
InParanoidiP48167.
KOiK05196.
OMAiPRLKLPN.
OrthoDBiEOG091G0805.
PhylomeDBiP48167.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109738-MONOMER.
ReactomeiR-HSA-975298. Ligand-gated ion channel transport.
SIGNORiP48167.

Miscellaneous databases

GeneWikiiGLRB.
GenomeRNAii2743.
PROiP48167.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109738.
CleanExiHS_GLRB.
ExpressionAtlasiP48167. baseline and differential.
GenevisibleiP48167. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PTHR18945:SF29. PTHR18945:SF29. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGLRB_HUMAN
AccessioniPrimary (citable) accession number: P48167
Secondary accession number(s): A8K3K2, D3DP23, F5GWE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: November 30, 2016
This is version 166 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.