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P48167 (GLRB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycine receptor subunit beta
Alternative name(s):
Glycine receptor 58 kDa subunit
Gene names
Name:GLRB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length497 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).

Subunit structure

Interacts with GPHN By similarity. Pentamer composed of three alpha and two beta subunits. Ref.8

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processacrosome reaction

Inferred from electronic annotation. Source: Ensembl

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

chloride transmembrane transport

Inferred from direct assay Ref.1. Source: GOC

ion transmembrane transport

Traceable author statement. Source: Reactome

ion transport

Inferred from direct assay Ref.1. Source: UniProtKB

nervous system development

Inferred from mutant phenotype Ref.9. Source: UniProtKB

neuropeptide signaling pathway

Inferred from direct assay Ref.1. Source: UniProtKB

protein heterooligomerization

Inferred from electronic annotation. Source: Ensembl

regulation of membrane potential

Inferred from electronic annotation. Source: Ensembl

righting reflex

Inferred from electronic annotation. Source: Ensembl

startle response

Inferred from mutant phenotype Ref.9. Source: UniProtKB

synaptic transmission

Inferred from mutant phenotype Ref.9. Source: UniProtKB

synaptic transmission, glycinergic

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

visual perception

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

chloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of plasma membrane

Non-traceable author statement Ref.1. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionextracellular-glycine-gated chloride channel activity

Traceable author statement. Source: Reactome

extracellular-glycine-gated ion channel activity

Inferred from mutant phenotype Ref.9. Source: UniProtKB

glycine binding

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction Ref.9PubMed 15215304. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P48167-1)

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.
Isoform 2 (identifier: P48167-2)

The sequence of this isoform differs from the canonical sequence as follows:
     303-303: I → W
     304-497: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 By similarity
Chain23 – 497475Glycine receptor subunit beta
PRO_0000000423

Regions

Topological domain23 – 265243Extracellular Probable
Transmembrane266 – 29025Helical; Probable
Transmembrane299 – 31618Helical; Probable
Transmembrane331 – 35424Helical; Probable
Topological domain355 – 478124Cytoplasmic Probable
Transmembrane479 – 49618Helical; Probable

Amino acid modifications

Glycosylation541N-linked (GlcNAc...) Potential
Glycosylation2421N-linked (GlcNAc...) Potential
Disulfide bond183 ↔ 197 By similarity

Natural variations

Alternative sequence3031I → W in isoform 2.
VSP_045466
Alternative sequence304 – 497194Missing in isoform 2.
VSP_045467
Natural variant1991M → R in HKPX2. Ref.10
VAR_068246
Natural variant2511G → D in HKPX2. Ref.9
VAR_035070

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: C1F0B407601D3625

FASTA49756,122
        10         20         30         40         50         60 
MKFLLTTAFL ILISLWVEEA YSKEKSSKKG KGKKKQYLCP SQQSAEDLAR VPANSTSNIL 

        70         80         90        100        110        120 
NRLLVSYDPR IRPNFKGIPV DVVVNIFINS FGSIQETTMD YRVNIFLRQK WNDPRLKLPS 

       130        140        150        160        170        180 
DFRGSDALTV DPTMYKCLWK PDLFFANEKS ANFHDVTQEN ILLFIFRDGD VLVSMRLSIT 

       190        200        210        220        230        240 
LSCPLDLTLF PMDTQRCKMQ LESFGYTTDD LRFIWQSGDP VQLEKIALPQ FDIKKEDIEY 

       250        260        270        280        290        300 
GNCTKYYKGT GYYTCVEVIF TLRRQVGFYM MGVYAPTLLI VVLSWLSFWI NPDASAARVP 

       310        320        330        340        350        360 
LGIFSVLSLA SECTTLAAEL PKVSYVKALD VWLIACLLFG FASLVEYAVV QVMLNNPKRV 

       370        380        390        400        410        420 
EAEKARIAKA EQADGKGGNV AKKNTVNGTG TPVHISTLQV GETRCKKVCT SKSDLRSNDF 

       430        440        450        460        470        480 
SIVGSLPRDF ELSNYDCYGK PIEVNNGLGK SQAKNNKKPP PAKPVIPTAA KRIDLYARAL 

       490 
FPFCFLFFNV IYWSIYL 

« Hide

Isoform 2 [UniParc].

Checksum: D1CAB208A3C5B6C3
Show »

FASTA30334,944

References

« Hide 'large scale' references
[1]"The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes."
Handford C.A., Lynch J.W., Baker E., Webb G.C., Ford J.H., Sutherland G.R., Schofield P.R.
Brain Res. Mol. Brain Res. 35:211-219(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Hippocampus.
[2]"The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism."
Milani N., Muelhardt C., Weber R.G., Lichter P., Kioschis P., Poustka A., Becker C.-M.
Genomics 50:341-345(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"PCR isolation and cloning of novel splice variant mRNAs from known drug target genes."
Jin P., Fu G.K., Wilson A.D., Yang J., Chien D., Hawkins P.R., Au-Young J., Stuve L.L.
Genomics 83:566-571(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Heart.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[8]"Stoichiometry of the human glycine receptor revealed by direct subunit counting."
Durisic N., Godin A.G., Wever C.M., Heyes C.D., Lakadamyali M., Dent J.A.
J. Neurosci. 32:12915-12920(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT STOICHIOMETRY.
[9]"Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)."
Rees M.I., Lewis T.M., Kwok J.B.J., Mortier G.R., Govaert P., Snell R.G., Schofield P.R., Owen M.J.
Hum. Mol. Genet. 11:853-860(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX2 ASP-251.
[10]"Novel mutation in GLRB in a large family with hereditary hyperekplexia."
Al-Owain M., Colak D., Al-Bakheet A., Al-Hashmi N., Shuaib T., Al-Hemidan A., Aldhalaan H., Rahbeeni Z., Al-Sayed M., Al-Younes B., Ozand P.T., Kaya N.
Clin. Genet. 81:479-484(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HKPX2 ARG-199.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3796.1. [P48167-1]
CCDS54813.1. [P48167-2]
PIRG02031.
RefSeqNP_000815.1. NM_000824.4. [P48167-1]
NP_001159532.1. NM_001166060.1. [P48167-1]
NP_001159533.1. NM_001166061.1. [P48167-2]
UniGeneHs.32973.

3D structure databases

ProteinModelPortalP48167.
SMRP48167. Positions 55-374.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109005. 1 interaction.
STRING9606.ENSP00000264428.

Chemistry

ChEMBLCHEMBL2363052.
DrugBankDB00145. Glycine.
GuidetoPHARMACOLOGY427.

Protein family/group databases

TCDB1.A.9.3.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteP48167.

Polymorphism databases

DMDM1346173.

Proteomic databases

PaxDbP48167.
PRIDEP48167.

Protocols and materials databases

DNASU2743.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264428; ENSP00000264428; ENSG00000109738. [P48167-1]
ENST00000509282; ENSP00000427186; ENSG00000109738. [P48167-1]
ENST00000541722; ENSP00000441873; ENSG00000109738. [P48167-2]
GeneID2743.
KEGGhsa:2743.
UCSCuc003ipj.2. human. [P48167-1]

Organism-specific databases

CTD2743.
GeneCardsGC04P157997.
GeneReviewsGLRB.
HGNCHGNC:4329. GLRB.
HPAHPA052363.
MIM138492. gene.
614619. phenotype.
neXtProtNX_P48167.
Orphanet3197. Hereditary hyperekplexia.
PharmGKBPA28730.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295166.
HOGENOMHOG000231336.
HOVERGENHBG051707.
InParanoidP48167.
KOK05196.
OMAPTMFKCL.
OrthoDBEOG712TVZ.
PhylomeDBP48167.
TreeFamTF315453.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP48167.
BgeeP48167.
CleanExHS_GLRB.
GenevestigatorP48167.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PTHR18945:SF29. PTHR18945:SF29. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGLRB.
GenomeRNAi2743.
NextBio10812.
PROP48167.
SOURCESearch...

Entry information

Entry nameGLRB_HUMAN
AccessionPrimary (citable) accession number: P48167
Secondary accession number(s): A8K3K2, D3DP23, F5GWE1
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: July 9, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM