P48167 (GLRB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycine receptor subunit beta

Alternative name(s):
Glycine receptor 58 kDa subunit

Gene names

Name:

GLRB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	497 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Pentamer composed of alpha and beta subunits. Interacts with GPHN By similarity.
Subcellular location	Cell junction › synapse › postsynaptic 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.8 Ref.9
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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	acrosome reaction Inferred from electronic annotation. Source: Compara adult walking behavior Inferred from electronic annotation. Source: Compara nervous system development Inferred from mutant phenotype Ref.8. Source: UniProtKB neuropeptide signaling pathway Inferred from direct assay Ref.1. Source: UniProtKB protein heterooligomerization Inferred from electronic annotation. Source: Compara regulation of membrane potential Inferred from electronic annotation. Source: Compara righting reflex Inferred from electronic annotation. Source: Compara startle response Inferred from mutant phenotype Ref.8. Source: UniProtKB synaptic transmission Inferred from mutant phenotype Ref.8. Source: UniProtKB synaptic transmission, glycinergic Inferred from electronic annotation. Source: Compara visual perception Inferred from electronic annotation. Source: Compara
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW integral to plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	extracellular-glycine-gated chloride channel activity Traceable author statement. Source: Reactome
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	By similarity
	Chain	23 – 497	475	Glycine receptor subunit beta		PRO_0000000423
Regions
	Topological domain	23 – 265	243	Extracellular Probable
	Transmembrane	266 – 290	25	Helical; Probable
	Transmembrane	299 – 316	18	Helical; Probable
	Transmembrane	331 – 354	24	Helical; Probable
	Topological domain	355 – 478	124	Cytoplasmic Probable
	Transmembrane	479 – 496	18	Helical; Probable
Amino acid modifications
	Glycosylation	54	1	N-linked (GlcNAc...) Potential
	Glycosylation	242	1	N-linked (GlcNAc...) Potential
	Disulfide bond	183 ↔ 197		By similarity
Natural variations
	Alternative sequence	303	1	I → W in isoform 2.		VSP_045466
	Alternative sequence	304 – 497	194	Missing in isoform 2.		VSP_045467
	Natural variant	199	1	M → R in HKPX2. Ref.9		VAR_068246
	Natural variant	251	1	G → D in HKPX2. Ref.8		VAR_035070

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 1, 1996. Version 1. Checksum: C1F0B407601D3625	FASTA	497	56,122
	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
	Isoform 2 [UniParc]. Checksum: D1CAB208A3C5B6C3	FASTA	303	34,944
	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 LGW

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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]	"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.
[9]	"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.

Web resources

GeneReviews

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.
IPI	IPI00008224. IPI00945266.
PIR	G02031.
RefSeq	NP_000815.1. NM_000824.4. NP_001159532.1. NM_001166060.1. NP_001159533.1. NM_001166061.1.
UniGene	Hs.32973.
3D structure databases
ProteinModelPortal	P48167.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000264428.
Protein family/group databases
TCDB	1.A.9.3.1. neurotransmitter receptor, cys loop, ligand-gated ion channel (LIC) family.
PTM databases
PhosphoSite	P48167.
Polymorphism databases
DMDM	1346173.
Proteomic databases
PaxDb	P48167.
PRIDE	P48167.
Protocols and materials databases
DNASU	2743.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264428; ENSP00000264428; ENSG00000109738. ENST00000509282; ENSP00000427186; ENSG00000109738. ENST00000541722; ENSP00000441873; ENSG00000109738.
GeneID	2743.
KEGG	hsa:2743.
UCSC	uc003ipj.2. human.
Organism-specific databases
CTD	2743.
GeneCards	GC04P157997.
HGNC	HGNC:4329. GLRB.
HPA	HPA052363.
MIM	138492. gene. 614619. phenotype.
neXtProt	NX_P48167.
Orphanet	3197. Hereditary hyperekplexia.
PharmGKB	PA28730.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG295166.
HOGENOM	HOG000231336.
HOVERGEN	HBG051707.
InParanoid	P48167.
KO	K05196.
OMA	PTMFKCL.
OrthoDB	EOG4HMJ97.
PhylomeDB	P48167.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P48167.
Bgee	P48167.
CleanEx	HS_GLRB.
Genevestigator	P48167.
GermOnline	ENSG00000109738. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR008060. Glycine_rcpt_B. IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit. PTHR18945:SF29. PTHR18945:SF29. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR01677. GLYRBETA. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00145. Glycine.
GenomeRNAi	2743.
NextBio	10812.
SOURCE	Search...

Entry information

Entry name

GLRB_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 127 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.