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P18505 (GBRB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 150. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit beta-1
Alternative name(s):
GABA(A) receptor subunit beta-1
Gene names
Name:GABRB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length474 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Subunit structure

Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents By similarity.

Subcellular location

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

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   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_procession transmembrane transport

Traceable author statement. Source: Reactome

signal transduction

Traceable author statement Ref.1. Source: ProtInc

synaptic transmission

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.1. Source: ProtInc

   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

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionGABA-A receptor activity

Traceable author statement Ref.1. Source: ProtInc

chloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular ligand-gated ion channel activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 474449Gamma-aminobutyric acid receptor subunit beta-1
PRO_0000000456

Regions

Topological domain26 – 245220Extracellular Probable
Transmembrane246 – 26722Helical; Probable
Transmembrane271 – 29323Helical; Probable
Transmembrane305 – 32723Helical; Probable
Topological domain328 – 451124Cytoplasmic Probable
Transmembrane452 – 47322Helical; Probable

Amino acid modifications

Glycosylation1051N-linked (GlcNAc...) Potential
Glycosylation1741N-linked (GlcNAc...) Potential
Disulfide bond161 ↔ 175 By similarity

Natural variations

Natural variant4211H → Q Found in 1.1% of population and in some schizophrenic patients. Ref.7
Corresponds to variant rs41311286 [ dbSNP | Ensembl ].
VAR_000302
Natural variant4291I → N. Ref.5
Corresponds to variant rs17852014 [ dbSNP | Ensembl ].
VAR_035441

Experimental info

Sequence conflict351S → P in CAA32875. Ref.1
Sequence conflict1171W → C in AAH22449. Ref.5

Sequences

Sequence LengthMass (Da)Tools
P18505 [UniParc].

Last modified October 10, 2002. Version 2.
Checksum: 05DA70F6FCD04E54

FASTA47454,235
        10         20         30         40         50         60 
MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI RLRPDFGGPP 

        70         80         90        100        110        120 
VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS GIPLNLTLDN RVADQLWVPD 

       130        140        150        160        170        180 
TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 

       190        200        210        220        230        240 
SYGYTTDDIE FYWNGGEGAV TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK 

       250        260        270        280        290        300 
RNIGYFILQT YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI 

       310        320        330        340        350        360 
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE KNKLEMNKVQ 

       370        380        390        400        410        420 
VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA SIQYRKPLSS REAYGRALDR 

       430        440        450        460        470 
HGVPSKGRIR RRASQLKVKI PDLTDVNSID KWSRMFFPIT FSLFNVVYWL YYVH 

« Hide

References

« Hide 'large scale' references
[1]"Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits."
Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.
FEBS Lett. 244:361-364(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1)."
Kirkness E.F., Kusiak J.W., Fleming J.T., Menninger J., Gocayne J.D., Ward D.C., Venter J.C.
Genomics 10:985-995(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[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 (JUL-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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-429.
Tissue: Brain.
[6]"Differential expression of gamma-aminobutyric acidA receptor subunits."
Garrett K.M., Saito N., Duman R.S., Abel M.S., Ashton R.A., Fujimori S., Beer B., Tallman J.F., Vitek M.P., Blume A.J.
Mol. Pharmacol. 37:652-657(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-474.
[7]"Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia."
Coon H., Sobell J., Heston L., Sommer S., Hoff M., Holik J., Umar F., Robertson M., Reimherr F., Wender P.
Am. J. Med. Genet. 54:12-20(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 404-434, VARIANT GLN-421.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X14767 mRNA. Translation: CAA32875.1.
M59216 expand/collapse EMBL AC list , M59212, M59214, M59215 Genomic DNA. Translation: AAA35862.1.
AK312720 mRNA. Translation: BAG35594.1.
CH471069 Genomic DNA. Translation: EAW93031.1.
BC022449 mRNA. Translation: AAH22449.1.
S70733 mRNA. Translation: AAB30712.1.
PIRA40336.
RefSeqNP_000803.2. NM_000812.3.
UniGeneHs.27283.
Hs.633316.

3D structure databases

ProteinModelPortalP18505.
SMRP18505. Positions 37-474.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108834. 6 interactions.
IntActP18505. 2 interactions.
STRING9606.ENSP00000295454.

Chemistry

BindingDBP18505.
ChEMBLCHEMBL2109244.
DrugBankDB00189. Ethchlorvynol.
DB00690. Flurazepam.
DB00186. Lorazepam.
DB00683. Midazolam.
GuidetoPHARMACOLOGY410.

PTM databases

PhosphoSiteP18505.

Polymorphism databases

DMDM23831128.

Proteomic databases

PaxDbP18505.
PRIDEP18505.

Protocols and materials databases

DNASU2560.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295454; ENSP00000295454; ENSG00000163288.
GeneID2560.
KEGGhsa:2560.
UCSCuc003gxh.3. human.

Organism-specific databases

CTD2560.
GeneCardsGC04P046949.
H-InvDBHIX0004191.
HIX0164000.
HGNCHGNC:4081. GABRB1.
HPAHPA051297.
MIM137190. gene.
neXtProtNX_P18505.
PharmGKBPA28495.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77438.
HOGENOMHOG000231335.
HOVERGENHBG051707.
InParanoidP18505.
KOK05181.
OMAYRKPMSS.
PhylomeDBP18505.
TreeFamTF315453.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP18505.
BgeeP18505.
CleanExHS_GABRB1.
GenevestigatorP18505.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRB1.
GenomeRNAi2560.
NextBio10111.
PROP18505.
SOURCESearch...

Entry information

Entry nameGBRB1_HUMAN
AccessionPrimary (citable) accession number: P18505
Secondary accession number(s): B2R6U7, Q16166, Q8TBK3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 10, 2002
Last modified: April 16, 2014
This is version 150 of the entry and version 2 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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

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