P18505 (GBRB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit beta-1

Alternative name(s):
GABA(A) receptor subunit beta-1

Gene names

Name:

GABRB1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	474 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	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 junction › synapse › postsynaptic 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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ionic channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	synaptic transmission Traceable author statement. Source: Reactome
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 Traceable author statement. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	GABA-A receptor activity Traceable author statement. Source: ProtInc chloride channel activity Traceable author statement. Source: Reactome extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 474	449	Gamma-aminobutyric acid receptor subunit beta-1		PRO_0000000456
Regions
	Topological domain	26 – 245	220	Extracellular Probable
	Transmembrane	246 – 267	22	Helical; Probable
	Transmembrane	271 – 293	23	Helical; Probable
	Transmembrane	305 – 327	23	Helical; Probable
	Topological domain	328 – 451	124	Cytoplasmic Probable
	Transmembrane	452 – 473	22	Helical; Probable
Amino acid modifications
	Modified residue	448	1	Phosphoserine Ref.8
	Glycosylation	105	1	N-linked (GlcNAc...) Potential
	Glycosylation	174	1	N-linked (GlcNAc...) Potential
	Disulfide bond	161 ↔ 175		By similarity
Natural variations
	Natural variant	421	1	H → Q Found in 1.1% of population and in some schizophrenic patients. Ref.7 Corresponds to variant rs41311286 [ dbSNP | Ensembl ].		VAR_000302
	Natural variant	429	1	I → N. Ref.5 Corresponds to variant rs17852014 [ dbSNP | Ensembl ].		VAR_035441
Experimental info
	Sequence conflict	35	1	S → P in CAA32875. Ref.1
	Sequence conflict	117	1	W → C in AAH22449. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P18505 [UniParc]. Last modified October 10, 2002. Version 2. Checksum: 05DA70F6FCD04E54	FASTA	474	54,235
	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

References

	« Hide 'large scale' referencesShow '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: 2465923] [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: 1655634] [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. , 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: 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. , 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: 15489334] [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: 2160058] [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: 8178835] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 404-434, VARIANT GLN-421.
[8]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	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 , 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.
IPI	IPI00299122.
PIR	A40336.
RefSeq	NP_000803.2. NM_000812.3.
UniGene	Hs.27283.
3D structure databases
ProteinModelPortal	P18505.
SMR	P18505. Positions 37-474.
ModBase	Search...
Protein-protein interaction databases
IntAct	P18505. 2 interactions.
STRING	P18505.
PTM databases
PhosphoSite	P18505.
Polymorphism databases
DMDM	23831128.
Proteomic databases
PRIDE	P18505.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295454; ENSP00000295454; ENSG00000163288.
GeneID	2560.
KEGG	hsa:2560.
Organism-specific databases
CTD	2560.
GeneCards	GC04P046949.
H-InvDB	HIX0004191.
HGNC	HGNC:4081. GABRB1.
MIM	137190. gene.
neXtProt	NX_P18505.
PharmGKB	PA28495.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11668.
GeneTree	ENSGT00600000083996.
HOGENOM	HBG506497.
HOVERGEN	HBG051707.
InParanoid	P18505.
OMA	SIQYRRP.
OrthoDB	EOG45756F.
PhylomeDB	P18505.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P18505.
Bgee	P18505.
CleanEx	HS_GABRB1.
Genevestigator	P18505.
Family and domain databases
InterPro	IPR006028. 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]
Gene3D	G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
KO	K05181.
PANTHER	PTHR18945. Neur_channel. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR01160. GABAARBETA. PR00253. GABAARECEPTR. 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	DB00189. Ethchlorvynol. DB00690. Flurazepam. DB00186. Lorazepam. DB00683. Midazolam.
NextBio	10111.
SOURCE	Search...

Entry information

Entry name

GBRB1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 128 of the entry and version 2 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.