P24046 (GBRR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

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

Gene names

Name:

GABRR1

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	479 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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. Rho-1 GABA receptor could play a role in retinal neurotransmission.
Subunit structure	Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 By similarity.
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Tissue specificity	Highly expressed in the retina and in a lesser extent in brain, lung and thymus.
Sequence similarities	Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-subfamily. [View classification]
Sequence caution	The sequence AAA52509.1 differs from that shown. Reason: Erroneous initiation. The sequence AAI30345.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gamma-aminobutyric acid signaling pathway Traceable author statement PubMed 10779366. Source: ProtInc ion transmembrane transport Traceable author statement. Source: Reactome 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 PubMed 10779366. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	GABA-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...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P24046-1)

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: P24046-2)

The sequence of this isoform differs from the canonical sequence as follows:
     41-57: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 479	458	Gamma-aminobutyric acid receptor subunit rho-1		PRO_0000000485
Regions
	Topological domain	22 – 281	260	Extracellular Probable
	Transmembrane	282 – 305	24	Helical; Probable
	Transmembrane	309 – 331	23	Helical; Probable
	Transmembrane	343 – 365	23	Helical; Probable
	Topological domain	366 – 457	92	Cytoplasmic Probable
	Transmembrane	458 – 479	22	Helical; Probable
Amino acid modifications
	Glycosylation	140	1	N-linked (GlcNAc...) Potential
	Glycosylation	234	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
	Disulfide bond	198 ↔ 212		By similarity
Natural variations
	Alternative sequence	41 – 57	17	Missing in isoform 2.		VSP_036363
	Natural variant	26	1	M → V. Ref.2 Corresponds to variant rs12200969 [ dbSNP | Ensembl ].		VAR_054426
	Natural variant	27	1	H → R. Corresponds to variant rs1186902 [ dbSNP | Ensembl ].		VAR_024361
Experimental info
	Sequence conflict	40	1	G → GS in AAI30345. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 10, 2009. Version 2. Checksum: C0C1985F16C18231	FASTA	479	55,883
	10 20 30 40 50 60 MLAVPNMRFG IFLLWWGWVL ATESRMHWPG REVHEMSKKG RPQRQRREVH EDAHKQVSPI 70 80 90 100 110 120 LRRSPDITKS PLTKSEQLLR IDDHDFSMRP GFGGPAIPVG VDVQVESLDS ISEVDMDFTM 130 140 150 160 170 180 TLYLRHYWKD ERLSFPSTNN LSMTFDGRLV KKIWVPDMFF VHSKRSFIHD TTTDNVMLRV 190 200 210 220 230 240 QPDGKVLYSL RVTVTAMCNM DFSRFPLDTQ TCSLEIESYA YTEDDLMLYW KKGNDSLKTD 250 260 270 280 290 300 ERISLSQFLI QEFHTTTKLA FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW 310 320 330 340 350 360 VSFWIDRRAV PARVPLGITT VLTMSTIITG VNASMPRVSY IKAVDIYLWV SFVFVFLSVL 370 380 390 400 410 420 EYAAVNYLTT VQERKEQKLR EKLPCTSGLP PPRTAMLDGN YSDGEVNDLD NYMPENGEKP 430 440 450 460 470 DRMMVQLTLA SERSSPQRKS QRSSYVSMRI DTHAIDKYSR IIFPAAYILF NLIYWSIFS
	Isoform 2 [UniParc]. Checksum: B10A3E99D285154A	FASTA	462	53,732
	10 20 30 40 50 60 MLAVPNMRFG IFLLWWGWVL ATESRMHWPG REVHEMSKKG SPILRRSPDI TKSPLTKSEQ 70 80 90 100 110 120 LLRIDDHDFS MRPGFGGPAI PVGVDVQVES LDSISEVDMD FTMTLYLRHY WKDERLSFPS 130 140 150 160 170 180 TNNLSMTFDG RLVKKIWVPD MFFVHSKRSF IHDTTTDNVM LRVQPDGKVL YSLRVTVTAM 190 200 210 220 230 240 CNMDFSRFPL DTQTCSLEIE SYAYTEDDLM LYWKKGNDSL KTDERISLSQ FLIQEFHTTT 250 260 270 280 290 300 KLAFYSSTGW YNRLYINFTL RRHIFFFLLQ TYFPATLMVM LSWVSFWIDR RAVPARVPLG 310 320 330 340 350 360 ITTVLTMSTI ITGVNASMPR VSYIKAVDIY LWVSFVFVFL SVLEYAAVNY LTTVQERKEQ 370 380 390 400 410 420 KLREKLPCTS GLPPPRTAML DGNYSDGEVN DLDNYMPENG EKPDRMMVQL TLASERSSPQ 430 440 450 460 RKSQRSSYVS MRIDTHAIDK YSRIIFPAAY ILFNLIYWSI FS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina." Cutting G.R., Lu L., O'Hara B.F., Kasch L.M., Montrose-Rafizadeh C., Donovan D.M., Shimada S., Antonarakis S.E., Guggino W.B., Uhl G.R., Kazazian H.H. Jr. Proc. Natl. Acad. Sci. U.S.A. 88:2673-2677(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Retina.
[2]	"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 2), VARIANT VAL-26. Tissue: Thalamus.
[3]	"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].
[4]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M62400 mRNA. Translation: AAA52509.1. Different initiation. AK296124 mRNA. Translation: BAG58870.1. AL353659, AL353135 Genomic DNA. Translation: CAC36328.3. AL353135, AL353659 Genomic DNA. Translation: CAI16246.2. BC130344 mRNA. Translation: AAI30345.1. Different initiation.
IPI	IPI00747264. IPI00921480.
PIR	A38627.
RefSeq	NP_001243632.1. NM_001256703.1. NP_002033.2. NM_002042.4.
UniGene	Hs.99927.
3D structure databases
ProteinModelPortal	P24046.
ModBase	Search...
Protein-protein interaction databases
IntAct	P24046. 1 interaction.
STRING	9606.ENSP00000412673.
PTM databases
PhosphoSite	P24046.
Polymorphism databases
DMDM	223590210.
Proteomic databases
PaxDb	P24046.
PRIDE	P24046.
Protocols and materials databases
DNASU	2569.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000435811; ENSP00000394687; ENSG00000146276. ENST00000454853; ENSP00000412673; ENSG00000146276.
GeneID	2569.
KEGG	hsa:2569.
UCSC	uc003pna.2. human. uc011dzv.1. human.
Organism-specific databases
CTD	2569.
GeneCards	GC06M089944.
HGNC	HGNC:4090. GABRR1.
MIM	137161. gene.
neXtProt	NX_P24046.
PharmGKB	PA28505.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77438.
HOGENOM	HOG000231335.
HOVERGEN	HBG051707.
InParanoid	P24046.
KO	K05190.
OMA	RMMVQLA.
OrthoDB	EOG4RJG1G.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P24046.
Bgee	P24046.
CleanEx	HS_GABRR1.
Genevestigator	P24046.
GermOnline	ENSG00000146276. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006028. GABAA_rcpt. IPR008058. GABAAa_rho1_rcpt. IPR008057. GABAAa_rho_rcpt. 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.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 2 hits. [Graphical view]
PRINTS	PR00253. GABAARECEPTR. PR01670. GABAARRHO. PR01671. GABAARRHO1. 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
BindingDB	P24046.
ChEMBL	CHEMBL3561.
DrugBank	DB00466. Picrotoxin.
GenomeRNAi	2569.
NextBio	10161.
SOURCE	Search...

Entry information

Entry name

GBRR1_HUMAN

Accession

Primary (citable) accession number: P24046
Secondary accession number(s): A1L401, B4DJK8, Q9BX06

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 1992
Last sequence update:	February 10, 2009
Last modified:	May 1, 2013
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.