Q9UBS5 (GABR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid type B receptor subunit 1
Short name=GABA-B receptor 1
Short name=GABA-B-R1
Short name=GABA-BR1
Short name=GABABR1
Short name=Gb1

Gene names

Name:	GABBR1
Synonyms:	GPRC3A

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	961 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	Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R inhibit neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen. Isoform 1E function may be to regulate the availability of functional GABA-B-R1A/GABA-B-R2 heterodimers by competing for GABA-B-R2 dimerization. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites.
Cofactor	Calcium. Required for high affinity binding to GABA.
Subunit structure	Heterodimer of GABA-B-R1 and GABA-B-R2. Neither of which is effective on its own and homodimeric assembly does not seem to happen. Isoform 1E (without C-terminal intracellular domain) is unable to dimerize via a coiled-coil interaction with GABA-B-R2. Interacts with the leucine zipper of the C-terminal bZIP domain of ATF4 via its C-terminal region. Interacts with JAKMIP1. Ref.14 Ref.15 Ref.16
Subcellular location	Cell membrane; Multi-pass membrane protein. Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Note: Colocalizes with ATF4 in hippocampal neuron dendritic membranes By similarity. Moreover coexpression of GABA-B-R1 and GABA-B-R2 appears to be a prerequisite for maturation and transport of GABA-B-R1 to the plasma membrane. Isoform 1E: Secreted Probable.
Tissue specificity	Highly expressed in brain and weakly in heart, small intestine and uterus. Isoform 1A is mostly expressed in granular cell and molecular layer. Isoform 1B is mostly expressed in Purkinje cells. Isoform 1E is predominantly expressed in peripheral tissues as kidney, lung, trachea, colon, small intestine, stomach, bone marrow, thymus and mammary gland.
Domain	Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABA-B receptor 2. The linker region between the transmembrane domain 3 (TM3) and the transmembrane domain 4 (TM4) probably play a role in the specificity for G-protein coupling.
Sequence similarities	Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. Contains 2 Sushi (CCP/SCR) domains.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Secreted Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat Signal Sushi Transmembrane Transmembrane helix
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gamma-aminobutyric acid signaling pathway Traceable author statement PubMed 9069281. Source: ProtInc negative regulation of adenylate cyclase activity Traceable author statement PubMed 9069281. Source: ProtInc synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	G-protein coupled receptor dimeric complex Inferred from electronic annotation. Source: Compara cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: Compara extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement Ref.4. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell presynaptic membrane Inferred from electronic annotation. Source: Compara
Molecular_function	G-protein coupled GABA receptor activity Traceable author statement PubMed 9069281. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MAX	P61244	3	EBI-724156,EBI-751711
NCK1	P16333	3	EBI-724156,EBI-389883

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Isoforms corresponding to the full receptor are essentially found in the central nervous system (CNS).

Isoform 1A (identifier: Q9UBS5-1)

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 1B (identifier: Q9UBS5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: MLLLLLLAPL...PHCQVNRTPH → MGPGAPFARV...PHSRVPPHPS

Isoform 1C (identifier: Q9UBS5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     98-159: Missing.

Isoform 1D (identifier: Q9UBS5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     905-961: KEERVSELRH...DGSRVHLLYK → SGGLPRGPPEPPDRLSCDGSRVHLLYK

Isoform 1E (identifier: Q9UBS5-5)

Also known as: Truncated;

The sequence of this isoform differs from the canonical sequence as follows:
     570-961: GGSPPADQTL...DGSRVHLLYK → VISRTHSPT

Note: Major isoform in almost all peripheral tissues, although containing a premature stop codon in the mRNA and thus being a potential target for nonsense-mediated mRNA decay. May act as an antagonist of GABA-B receptors, being able to disrupt the normal association between isoform 1A and GABA-B-R2.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 14	14	Potential
	Chain	15 – 961	947	Gamma-aminobutyric acid type B receptor subunit 1		PRO_0000012949
Regions
	Topological domain	15 – 591	577	Extracellular Potential
	Transmembrane	592 – 612	21	Helical; Name=1; Potential
	Topological domain	613 – 631	19	Cytoplasmic Potential
	Transmembrane	632 – 652	21	Helical; Name=2; Potential
	Topological domain	653 – 667	15	Extracellular Potential
	Transmembrane	668 – 688	21	Helical; Name=3; Potential
	Topological domain	689 – 710	22	Cytoplasmic Potential
	Transmembrane	711 – 731	21	Helical; Name=4; Potential
	Topological domain	732 – 768	37	Extracellular Potential
	Transmembrane	769 – 789	21	Helical; Name=5; Potential
	Topological domain	790 – 804	15	Cytoplasmic Potential
	Transmembrane	805 – 825	21	Helical; Name=6; Potential
	Topological domain	826 – 833	8	Extracellular Potential
	Transmembrane	834 – 854	21	Helical; Name=7; Potential
	Topological domain	855 – 961	107	Cytoplasmic Potential
	Domain	30 – 96	67	Sushi 1
	Domain	98 – 159	62	Sushi 2
	Region	888 – 916	29	Interaction with ATF4 By similarity
	Coiled coil	869 – 925	57	Potential
Amino acid modifications
	Modified residue	930	1	Phosphothreonine By similarity
	Glycosylation	24	1	N-linked (GlcNAc...) Potential
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	409	1	N-linked (GlcNAc...) Potential
	Glycosylation	440	1	N-linked (GlcNAc...) Potential
	Glycosylation	482	1	N-linked (GlcNAc...) Potential
	Glycosylation	502	1	N-linked (GlcNAc...) Potential
	Glycosylation	514	1	N-linked (GlcNAc...) Potential
	Disulfide bond	100 ↔ 145		By similarity
	Disulfide bond	131 ↔ 157		By similarity
Natural variations
	Alternative sequence	1 – 164	164	MLLLL…NRTPH → MGPGAPFARVGWPLPLLVVM AAGVAPVWASHSPHLPRPHS RVPPHPS in isoform 1B.		VSP_002037
	Alternative sequence	98 – 159	62	Missing in isoform 1C.		VSP_002038
	Alternative sequence	570 – 961	392	GGSPP…HLLYK → VISRTHSPT in isoform 1E.		VSP_002039
	Alternative sequence	905 – 961	57	KEERV…HLLYK → SGGLPRGPPEPPDRLSCDGS RVHLLYK in isoform 1D.		VSP_002040
	Natural variant	20	1	A → V. Ref.7 Ref.10 Ref.17 Corresponds to variant rs1805056 [ dbSNP | Ensembl ].		VAR_010146
	Natural variant	489	1	G → S. Ref.7 Ref.17 Corresponds to variant rs1805057 [ dbSNP | Ensembl ].		VAR_010147
	Natural variant	645	1	F → L. Corresponds to variant rs2076489 [ dbSNP | Ensembl ].		VAR_049279
Experimental info
	Sequence conflict	2	1	L → M in Y11044. Ref.4
	Sequence conflict	21	1	Q → H in CAA09939. Ref.2
	Sequence conflict	21	1	Q → H in CAA09941. Ref.2
	Sequence conflict	93	1	P → L in AAC98508. Ref.3
	Sequence conflict	127	1	V → A in CAA09939. Ref.2
	Sequence conflict	322	1	Missing in CAA09031. Ref.7
	Sequence conflict	542	1	L → P in Y11044. Ref.4
	Sequence conflict	691	1	V → G in Y11044. Ref.4
	Sequence conflict	905 – 934	30	Missing in CAA09031. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1A [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 54E7349CD02B633F	FASTA	961	108,320
	10 20 30 40 50 60 MLLLLLLAPL FLRPPGAGGA QTPNATSEGC QIIHPPWEGG IRYRGLTRDQ VKAINFLPVD 70 80 90 100 110 120 YEIEYVCRGE REVVGPKVRK CLANGSWTDM DTPSRCVRIC SKSYLTLENG KVFLTGGDLP 130 140 150 160 170 180 ALDGARVDFR CDPDFHLVGS SRSICSQGQW STPKPHCQVN RTPHSERRAV YIGALFPMSG 190 200 210 220 230 240 GWPGGQACQP AVEMALEDVN SRRDILPDYE LKLIHHDSKC DPGQATKYLY ELLYNDPIKI 250 260 270 280 290 300 ILMPGCSSVS TLVAEAARMW NLIVLSYGSS SPALSNRQRF PTFFRTHPSA TLHNPTRVKL 310 320 330 340 350 360 FEKWGWKKIA TIQQTTEVFT STLDDLEERV KEAGIEITFR QSFFSDPAVP VKNLKRQDAR 370 380 390 400 410 420 IIVGLFYETE ARKVFCEVYK ERLFGKKYVW FLIGWYADNW FKIYDPSINC TVDEMTEAVE 430 440 450 460 470 480 GHITTEIVML NPANTRSISN MTSQEFVEKL TKRLKRHPEE TGGFQEAPLA YDAIWALALA 490 500 510 520 530 540 LNKTSGGGGR SGVRLEDFNY NNQTITDQIY RAMNSSSFEG VSGHVVFDAS GSRMAWTLIE 550 560 570 580 590 600 QLQGGSYKKI GYYDSTKDDL SWSKTDKWIG GSPPADQTLV IKTFRFLSQK LFISVSVLSS 610 620 630 640 650 660 LGIVLAVVCL SFNIYNSHVR YIQNSQPNLN NLTAVGCSLA LAAVFPLGLD GYHIGRNQFP 670 680 690 700 710 720 FVCQARLWLL GLGFSLGYGS MFTKIWWVHT VFTKKEEKKE WRKTLEPWKL YATVGLLVGM 730 740 750 760 770 780 DVLTLAIWQI VDPLHRTIET FAKEEPKEDI DVSILPQLEH CSSRKMNTWL GIFYGYKGLL 790 800 810 820 830 840 LLLGIFLAYE TKSVSTEKIN DHRAVGMAIY NVAVLCLITA PVTMILSSQQ DAAFAFASLA 850 860 870 880 890 900 IVFSSYITLV VLFVPKMRRL ITRGEWQSEA QDTMKTGSST NNNEEEKSRL LEKENRELEK 910 920 930 940 950 960 IIAEKEERVS ELRHQLQSRQ QLRSRRHPPT PPEPSGGLPR GPPEPPDRLS CDGSRVHLLY K
	Isoform 1B [UniParc]. Checksum: D926376823699485	FASTA	844	95,148
	10 20 30 40 50 60 MGPGAPFARV GWPLPLLVVM AAGVAPVWAS HSPHLPRPHS RVPPHPSSER RAVYIGALFP 70 80 90 100 110 120 MSGGWPGGQA CQPAVEMALE DVNSRRDILP DYELKLIHHD SKCDPGQATK YLYELLYNDP 130 140 150 160 170 180 IKIILMPGCS SVSTLVAEAA RMWNLIVLSY GSSSPALSNR QRFPTFFRTH PSATLHNPTR 190 200 210 220 230 240 VKLFEKWGWK KIATIQQTTE VFTSTLDDLE ERVKEAGIEI TFRQSFFSDP AVPVKNLKRQ 250 260 270 280 290 300 DARIIVGLFY ETEARKVFCE VYKERLFGKK YVWFLIGWYA DNWFKIYDPS INCTVDEMTE 310 320 330 340 350 360 AVEGHITTEI VMLNPANTRS ISNMTSQEFV EKLTKRLKRH PEETGGFQEA PLAYDAIWAL 370 380 390 400 410 420 ALALNKTSGG GGRSGVRLED FNYNNQTITD QIYRAMNSSS FEGVSGHVVF DASGSRMAWT 430 440 450 460 470 480 LIEQLQGGSY KKIGYYDSTK DDLSWSKTDK WIGGSPPADQ TLVIKTFRFL SQKLFISVSV 490 500 510 520 530 540 LSSLGIVLAV VCLSFNIYNS HVRYIQNSQP NLNNLTAVGC SLALAAVFPL GLDGYHIGRN 550 560 570 580 590 600 QFPFVCQARL WLLGLGFSLG YGSMFTKIWW VHTVFTKKEE KKEWRKTLEP WKLYATVGLL 610 620 630 640 650 660 VGMDVLTLAI WQIVDPLHRT IETFAKEEPK EDIDVSILPQ LEHCSSRKMN TWLGIFYGYK 670 680 690 700 710 720 GLLLLLGIFL AYETKSVSTE KINDHRAVGM AIYNVAVLCL ITAPVTMILS SQQDAAFAFA 730 740 750 760 770 780 SLAIVFSSYI TLVVLFVPKM RRLITRGEWQ SEAQDTMKTG SSTNNNEEEK SRLLEKENRE 790 800 810 820 830 840 LEKIIAEKEE RVSELRHQLQ SRQQLRSRRH PPTPPEPSGG LPRGPPEPPD RLSCDGSRVH LLYK
	Isoform 1C [UniParc]. Checksum: 65DD7A31D68114AE	FASTA	899	101,543
	10 20 30 40 50 60 MLLLLLLAPL FLRPPGAGGA QTPNATSEGC QIIHPPWEGG IRYRGLTRDQ VKAINFLPVD 70 80 90 100 110 120 YEIEYVCRGE REVVGPKVRK CLANGSWTDM DTPSRCVNRT PHSERRAVYI GALFPMSGGW 130 140 150 160 170 180 PGGQACQPAV EMALEDVNSR RDILPDYELK LIHHDSKCDP GQATKYLYEL LYNDPIKIIL 190 200 210 220 230 240 MPGCSSVSTL VAEAARMWNL IVLSYGSSSP ALSNRQRFPT FFRTHPSATL HNPTRVKLFE 250 260 270 280 290 300 KWGWKKIATI QQTTEVFTST LDDLEERVKE AGIEITFRQS FFSDPAVPVK NLKRQDARII 310 320 330 340 350 360 VGLFYETEAR KVFCEVYKER LFGKKYVWFL IGWYADNWFK IYDPSINCTV DEMTEAVEGH 370 380 390 400 410 420 ITTEIVMLNP ANTRSISNMT SQEFVEKLTK RLKRHPEETG GFQEAPLAYD AIWALALALN 430 440 450 460 470 480 KTSGGGGRSG VRLEDFNYNN QTITDQIYRA MNSSSFEGVS GHVVFDASGS RMAWTLIEQL 490 500 510 520 530 540 QGGSYKKIGY YDSTKDDLSW SKTDKWIGGS PPADQTLVIK TFRFLSQKLF ISVSVLSSLG 550 560 570 580 590 600 IVLAVVCLSF NIYNSHVRYI QNSQPNLNNL TAVGCSLALA AVFPLGLDGY HIGRNQFPFV 610 620 630 640 650 660 CQARLWLLGL GFSLGYGSMF TKIWWVHTVF TKKEEKKEWR KTLEPWKLYA TVGLLVGMDV 670 680 690 700 710 720 LTLAIWQIVD PLHRTIETFA KEEPKEDIDV SILPQLEHCS SRKMNTWLGI FYGYKGLLLL 730 740 750 760 770 780 LGIFLAYETK SVSTEKINDH RAVGMAIYNV AVLCLITAPV TMILSSQQDA AFAFASLAIV 790 800 810 820 830 840 FSSYITLVVL FVPKMRRLIT RGEWQSEAQD TMKTGSSTNN NEEEKSRLLE KENRELEKII 850 860 870 880 890 AEKEERVSEL RHQLQSRQQL RSRRHPPTPP EPSGGLPRGP PEPPDRLSCD GSRVHLLYK
	Isoform 1D [UniParc]. Checksum: 6FD16A36835AAB34	FASTA	931	104,665
	10 20 30 40 50 60 MLLLLLLAPL FLRPPGAGGA QTPNATSEGC QIIHPPWEGG IRYRGLTRDQ VKAINFLPVD 70 80 90 100 110 120 YEIEYVCRGE REVVGPKVRK CLANGSWTDM DTPSRCVRIC SKSYLTLENG KVFLTGGDLP 130 140 150 160 170 180 ALDGARVDFR CDPDFHLVGS SRSICSQGQW STPKPHCQVN RTPHSERRAV YIGALFPMSG 190 200 210 220 230 240 GWPGGQACQP AVEMALEDVN SRRDILPDYE LKLIHHDSKC DPGQATKYLY ELLYNDPIKI 250 260 270 280 290 300 ILMPGCSSVS TLVAEAARMW NLIVLSYGSS SPALSNRQRF PTFFRTHPSA TLHNPTRVKL 310 320 330 340 350 360 FEKWGWKKIA TIQQTTEVFT STLDDLEERV KEAGIEITFR QSFFSDPAVP VKNLKRQDAR 370 380 390 400 410 420 IIVGLFYETE ARKVFCEVYK ERLFGKKYVW FLIGWYADNW FKIYDPSINC TVDEMTEAVE 430 440 450 460 470 480 GHITTEIVML NPANTRSISN MTSQEFVEKL TKRLKRHPEE TGGFQEAPLA YDAIWALALA 490 500 510 520 530 540 LNKTSGGGGR SGVRLEDFNY NNQTITDQIY RAMNSSSFEG VSGHVVFDAS GSRMAWTLIE 550 560 570 580 590 600 QLQGGSYKKI GYYDSTKDDL SWSKTDKWIG GSPPADQTLV IKTFRFLSQK LFISVSVLSS 610 620 630 640 650 660 LGIVLAVVCL SFNIYNSHVR YIQNSQPNLN NLTAVGCSLA LAAVFPLGLD GYHIGRNQFP 670 680 690 700 710 720 FVCQARLWLL GLGFSLGYGS MFTKIWWVHT VFTKKEEKKE WRKTLEPWKL YATVGLLVGM 730 740 750 760 770 780 DVLTLAIWQI VDPLHRTIET FAKEEPKEDI DVSILPQLEH CSSRKMNTWL GIFYGYKGLL 790 800 810 820 830 840 LLLGIFLAYE TKSVSTEKIN DHRAVGMAIY NVAVLCLITA PVTMILSSQQ DAAFAFASLA 850 860 870 880 890 900 IVFSSYITLV VLFVPKMRRL ITRGEWQSEA QDTMKTGSST NNNEEEKSRL LEKENRELEK 910 920 930 IIAESGGLPR GPPEPPDRLS CDGSRVHLLY K
	Isoform 1E (Truncated) [UniParc]. Checksum: 9B15DFD4E097428F	FASTA	578	65,082
	10 20 30 40 50 60 MLLLLLLAPL FLRPPGAGGA QTPNATSEGC QIIHPPWEGG IRYRGLTRDQ VKAINFLPVD 70 80 90 100 110 120 YEIEYVCRGE REVVGPKVRK CLANGSWTDM DTPSRCVRIC SKSYLTLENG KVFLTGGDLP 130 140 150 160 170 180 ALDGARVDFR CDPDFHLVGS SRSICSQGQW STPKPHCQVN RTPHSERRAV YIGALFPMSG 190 200 210 220 230 240 GWPGGQACQP AVEMALEDVN SRRDILPDYE LKLIHHDSKC DPGQATKYLY ELLYNDPIKI 250 260 270 280 290 300 ILMPGCSSVS TLVAEAARMW NLIVLSYGSS SPALSNRQRF PTFFRTHPSA TLHNPTRVKL 310 320 330 340 350 360 FEKWGWKKIA TIQQTTEVFT STLDDLEERV KEAGIEITFR QSFFSDPAVP VKNLKRQDAR 370 380 390 400 410 420 IIVGLFYETE ARKVFCEVYK ERLFGKKYVW FLIGWYADNW FKIYDPSINC TVDEMTEAVE 430 440 450 460 470 480 GHITTEIVML NPANTRSISN MTSQEFVEKL TKRLKRHPEE TGGFQEAPLA YDAIWALALA 490 500 510 520 530 540 LNKTSGGGGR SGVRLEDFNY NNQTITDQIY RAMNSSSFEG VSGHVVFDAS GSRMAWTLIE 550 560 570 QLQGGSYKKI GYYDSTKDDL SWSKTDKWIV ISRTHSPT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels." Kaupmann K., Schuler V., Mosbacher J., Bischoff S., Bittiger H., Heid J., Froestl W., Leonhard S., Pfaff T., Karschin A., Bettler B. Proc. Natl. Acad. Sci. U.S.A. 95:14991-14996(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B). Tissue: Cerebellum.
[2]	"Heterodimerization is required for the formation of a functional GABA(B) receptor." White J.H., Wise A., Main M.J., Green A., Fraser N.J., Disney G.H., Barnes A.A., Emson P., Foord S.M., Marshall F.H. Nature 396:679-682(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C). Tissue: Cerebellum.
[3]	"Human mRNA for GABA-B1a receptor." Stropp U., Raming K. Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). Tissue: Brain.
[4]	"GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene." Grifa A., Totaro A., Rommens J.M., Carella M., Roetto A., Borgato L., Zelante L., Gasparini P. Biochem. Biophys. Res. Commun. 250:240-245(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). Tissue: Fetal brain.
[5]	"Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization." Goei V.L., Choi J., Ahn J., Bowlus C.L., Raha-Chowdhury R., Gruen J.R. Biol. Psychiatry 44:659-666(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1A).
[6]	Fraser N.J. Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1C). Tissue: Cerebellum.
[7]	"Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy." Peters H.C., Kaemmer G., Volz A., Kaupmann K., Ziegler A., Bettler B., Epplen J.T., Sander T., Riess O. Neurogenetics 2:47-54(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1A AND 1B), VARIANTS VAL-20 AND SER-489. Tissue: Fetal brain.
[8]	"Molecular cloning of human GABABR1 and its tissue distribution." Makoff A. Brain Res. Mol. Brain Res. 64:137-140(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). Tissue: Cerebellum.
[9]	"Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor." Schwarz D.A., Barry G., Eliasof S.D., Petroski R.E., Conlon P.J., Maki R.A. J. Biol. Chem. 275:32174-32181(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1E). Tissue: Prostate.
[10]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-20.
[11]	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].
[12]	"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 1B). Tissue: Brain.
[13]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[14]	"Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor." Sullivan R., Chateauneuf A., Coulombe N., Kolakowski L.F. Jr., Johnson M.P., Hebert T.E., Ethier N., Belley M., Metters K., Abramovitz M., O'Neill G.P., Ng G.Y.K. J. Pharmacol. Exp. Ther. 293:460-467(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GABBR2.
[15]	"Role of heteromer formation in GABAB receptor function." Kuner R., Koehr G., Gruenewald S., Eisenhardt G., Bach A., Kornau H.-C. Science 283:74-77(1999) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GABBR2.
[16]	"Marlin-1, a novel RNA-binding protein associates with GABA receptors." Couve A., Restituito S., Brandon J.M., Charles K.J., Bawagan H., Freeman K.B., Pangalos M.N., Calver A.R., Moss S.J. J. Biol. Chem. 279:13934-13943(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH JAKMIP1.
[17]	"Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy." Sander T., Peters C., Kaemmer G., Samochowiec J., Zirra M., Mischke D., Ziegler A., Kaupmann K., Bettler B., Epplen J.T., Riess O. Am. J. Med. Genet. 88:305-310(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS VAL-20 AND SER-489.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ225028 mRNA. Translation: CAA12359.1. AJ225029 mRNA. Translation: CAA12360.1. AJ012185 mRNA. Translation: CAA09939.1. AJ012186 mRNA. Translation: CAA09940.1. AF099148 mRNA. Translation: AAC98508.1. Y11044 mRNA. No translation available. AJ012187 mRNA. Translation: CAA09941.1. AJ010170 , AJ010171, AJ010172, AJ010173, AJ010174, AJ010175, AJ010176, AJ010177, AJ010178, AJ010179, AJ010180, AJ010181, AJ010182, AJ010183, AJ010184, AJ010185, AJ010186, AJ010187, AJ010188, AJ010189, AJ010190, AJ010191 Genomic DNA. Translation: CAA09031.1. AJ012288 mRNA. Translation: CAA09980.1. AL031983 Genomic DNA. Translation: CAA21453.1. AL031983 Genomic DNA. Translation: CAA21454.1. AL662826 Genomic DNA. Translation: CAI17390.1. AL662826 Genomic DNA. Translation: CAI17391.2. AL645936 Genomic DNA. Translation: CAI18016.1. AL645936 Genomic DNA. Translation: CAI18017.1. BX000688 Genomic DNA. Translation: CAI18605.1. BX000688 Genomic DNA. Translation: CAI18606.1. CR759766 Genomic DNA. Translation: CAQ06609.1. CR759766 Genomic DNA. Translation: CAQ06610.1. CR788300, CR936483 Genomic DNA. Translation: CAQ07763.1. CR788300, CR936483 Genomic DNA. Translation: CAQ07764.1. CR388210 Genomic DNA. Translation: CAQ09395.1. CR759870 Genomic DNA. Translation: CAQ09878.1. CR759870 Genomic DNA. Translation: CAQ09879.1. CR936483, CR788300 Genomic DNA. Translation: CAQ10082.1. CR936483, CR788300 Genomic DNA. Translation: CAQ10083.1. CH471081 Genomic DNA. Translation: EAX03205.1. CH471081 Genomic DNA. Translation: EAX03210.1. BC042598 mRNA. Translation: AAH42598.1. BC050532 mRNA. Translation: AAH50532.2.
IPI	IPI00002756. IPI00218738. IPI00218740. IPI00218741. IPI00296373.
PIR	JE0356.
RefSeq	NP_001461.1. NM_001470.2. NP_068703.1. NM_021903.2. NP_068704.2. NM_021904.2.
UniGene	Hs.167017.
3D structure databases
ProteinModelPortal	Q9UBS5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UBS5. 9 interactions.
MINT	MINT-2793192.
STRING	9606.ENSP00000388035.
Protein family/group databases
GPCRDB	Search...
PTM databases
PhosphoSite	Q9UBS5.
Polymorphism databases
DMDM	12643873.
Proteomic databases
PaxDb	Q9UBS5.
PRIDE	Q9UBS5.
Protocols and materials databases
DNASU	2550.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355973; ENSP00000348248; ENSG00000204681. ENST00000376977; ENSP00000366176; ENSG00000204681. ENST00000377012; ENSP00000366211; ENSG00000204681. ENST00000377016; ENSP00000366215; ENSG00000204681. ENST00000377034; ENSP00000366233; ENSG00000204681. ENST00000383537; ENSP00000373029; ENSG00000206466. ENST00000383541; ENSP00000373033; ENSG00000206466. ENST00000383542; ENSP00000373034; ENSG00000206466. ENST00000383543; ENSP00000373035; ENSG00000206466. ENST00000383636; ENSP00000373132; ENSG00000206511. ENST00000383637; ENSP00000373133; ENSG00000206511. ENST00000383638; ENSP00000373134; ENSG00000206511. ENST00000383639; ENSP00000373135; ENSG00000206511. ENST00000414980; ENSP00000406499; ENSG00000232632. ENST00000417759; ENSP00000391572; ENSG00000237112. ENST00000418225; ENSP00000416731; ENSG00000237051. ENST00000419674; ENSP00000399861; ENSG00000232569. ENST00000423604; ENSP00000388035; ENSG00000232632. ENST00000425097; ENSP00000411286; ENSG00000237112. ENST00000434660; ENSP00000412167; ENSG00000232632. ENST00000438094; ENSP00000406285; ENSG00000232632. ENST00000439457; ENSP00000406066; ENSG00000232569. ENST00000443440; ENSP00000399318; ENSG00000237112. ENST00000446436; ENSP00000394528; ENSG00000237112. ENST00000448754; ENSP00000405709; ENSG00000237051. ENST00000449163; ENSP00000411263; ENSG00000232569. ENST00000452300; ENSP00000408938; ENSG00000232569. ENST00000458612; ENSP00000416903; ENSG00000237051. ENST00000494877; ENSP00000419061; ENSG00000204681. ENST00000546913; ENSP00000448999; ENSG00000232569. ENST00000547410; ENSP00000448531; ENSG00000232569. ENST00000548767; ENSP00000446983; ENSG00000232632. ENST00000550428; ENSP00000449727; ENSG00000232569. ENST00000551140; ENSP00000448654; ENSG00000237112. ENST00000551423; ENSP00000449342; ENSG00000206511. ENST00000552399; ENSP00000449449; ENSG00000206466.
GeneID	2550.
KEGG	hsa:2550.
UCSC	uc003nmt.4. human. uc003nmu.4. human. uc011dls.1. human.
Organism-specific databases
CTD	2550.
GeneCards	GC06M029523.
HGNC	HGNC:4070. GABBR1.
HPA	HPA050483.
MIM	603540. gene.
neXtProt	NX_Q9UBS5.
PharmGKB	PA28484.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG273984.
HOVERGEN	HBG051688.
InParanoid	Q9UBS5.
KO	K04615.
OMA	SEPPDRL.
OrthoDB	EOG4BG8VH.
PhylomeDB	Q9UBS5.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	Q9UBS5.
Bgee	Q9UBS5.
CleanEx	HS_GABBR1.
Genevestigator	Q9UBS5.
GermOnline	ENSG00000204681. Homo sapiens.
Family and domain databases
InterPro	IPR001828. ANF_lig-bd_rcpt. IPR017978. GPCR_3_C. IPR002455. GPCR_3_GABA_rcpt_B. IPR002456. GPCR_3_GABA_rcpt_B1. IPR000436. Sushi_SCR_CCP. [Graphical view]
Pfam	PF00003. 7tm_3. 1 hit. PF01094. ANF_receptor. 1 hit. PF00084. Sushi. 2 hits. [Graphical view]
PRINTS	PR01177. GABAB1RECPTR. PR01176. GABABRECEPTR.
SMART	SM00032. CCP. 2 hits. [Graphical view]
SUPFAM	SSF57535. Complement_control_module. 2 hits.
PROSITE	PS00979. G_PROTEIN_RECEP_F3_1. False negative. PS00980. G_PROTEIN_RECEP_F3_2. False negative. PS00981. G_PROTEIN_RECEP_F3_3. False negative. PS50259. G_PROTEIN_RECEP_F3_4. 1 hit. PS50923. SUSHI. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9UBS5.
ChEMBL	CHEMBL2064.
ChiTaRS	GABBR1. human.
DrugBank	DB00181. Baclofen. DB00837. Progabide.
GenomeRNAi	2550.
NextBio	10061.
SOURCE	Search...

Entry information

Entry name

GABR1_HUMAN

Accession

Primary (citable) accession number: Q9UBS5
Secondary accession number(s): B0UXY7 , O95375, O95468, O95975, O96022, Q5STL4, Q5SUJ8, Q5SUL3, Q86W60, Q9UQQ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 136 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.