Skip Header

Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot P48167 (GLRB_HUMAN)

Last modified February 9, 2010. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

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) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

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

Hide | Top

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

Defects in GLRB are a cause of startle disease (STHE) [MIM:149400]; also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous 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. Inheritance can be autosomal dominant or recessive. Ref.6

Sequence similarities

Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification]

Hide | Top

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 – 29025 Probable
Transmembrane299 – 31618 Probable
Transmembrane331 – 35424 Probable
Topological domain355 – 478124Cytoplasmic Probable
Transmembrane479 – 49618 Probable

Amino acid modifications

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

Natural variations

Natural variant2511G → D in STHE. Ref.6
VAR_035070

Hide | Top

Sequences

Sequence LengthMass (Da)Tools
P48167-1 [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

Hide | Top

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: 8717357] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
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: 9676428] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Heart.
[4]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].
[5]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[6]"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: 11929858] [Abstract]
Cited for: VARIANT STHE ASP-251.
+Additional computationally mapped references.

Hide | Top

Web resources

GeneReviews

Hide | Top

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		U33267 mRNA. Translation: AAB37750.1.
AF094754 mRNA. Translation: AAC71033.1.
AF094755 mRNA. Translation: AAC71034.1.
AK290617 mRNA. Translation: BAF83306.1.
CH471056 Genomic DNA. Translation: EAX04872.1.
BC032635 mRNA. Translation: AAH32635.1.
IPIIPI00008224.
PIRG02031.
RefSeqNP_000815.1.
NP_001159532.1.
NP_001159533.1.
UniGeneHs.32973

3D structure databases

SMRP48167. Positions 57-359.
ModBaseSearch...

Protein-protein interaction databases

STRINGP48167.

Protein family/group databases

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

PTM databases

PhosphoSiteP48167.

Proteomic databases

PRIDEP48167.

Genome annotation databases

EnsemblENST00000264428; ENSP00000264428; ENSG00000109738; Homo sapiens. [Genome view]
GeneID2743.
KEGGhsa:2743.
UCSCuc003ipj.2. human.

Organism-specific databases

CTD2743.
GeneCardsGC04P158216.
H-InvDBHIX0004593.
HGNCHGNC:4329. GLRB.
MIM138492. gene.
149400. phenotype.
Orphanet3197. Hyperekplexia, hereditary.
PharmGKBPA28730.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG13895.
HOGENOMHBG506497.
HOVERGENP48167.
InParanoidP48167.
OMAPTMFKCL.
OrthoDBEOG94N1C1.
PhylomeDBP48167.

Gene expression databases

ArrayExpressP48167.
BgeeP48167.
CleanExHS_GLRB.
GenevestigatorP48167.
GermOnlineENSG00000109738. Homo sapiens.

Family and domain databases

InterProIPR008060. Glycine_rcpt_B.
IPR006202. Neur_chan_lig_bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
Gene3DG3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
PANTHERPTHR18945:SF29. Glycine_rcpt_B. 1 hit.
PTHR18945. Neur_channel. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR01677. GLYRBETA.
PR00252. NRIONCHANNEL.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00145. Glycine.
NextBio10812.
SOURCESearch...

Hide | Top

Entry information

Entry nameGLRB_HUMAN
AccessionPrimary (citable) accession number: P48167
Secondary accession number(s): A8K3K2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: February 9, 2010
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Hide | Top

Relevant documents

Human chromosome 4

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents