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P24046 (GBRR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit rho-1
Alternative name(s):
GABA(A) receptor subunit rho-1
GABA(C) receptor
Gene names
Name:GABRR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length479 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. 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 junctionsynapsepostsynaptic 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 processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processgamma-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

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 PubMed 10779366. 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...

Alternative products

This entry describes 3 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.
Isoform 3 (identifier: P24046-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 479458Gamma-aminobutyric acid receptor subunit rho-1
PRO_0000000485

Regions

Topological domain22 – 281260Extracellular Probable
Transmembrane282 – 30524Helical; Probable
Transmembrane309 – 33123Helical; Probable
Transmembrane343 – 36523Helical; Probable
Topological domain366 – 45792Cytoplasmic Probable
Transmembrane458 – 47922Helical; Probable

Amino acid modifications

Glycosylation1401N-linked (GlcNAc...) Potential
Glycosylation2341N-linked (GlcNAc...) Potential
Glycosylation2741N-linked (GlcNAc...) Potential
Disulfide bond198 ↔ 212 By similarity

Natural variations

Alternative sequence1 – 8787Missing in isoform 3.
VSP_046665
Alternative sequence41 – 5717Missing in isoform 2.
VSP_036363
Natural variant261M → V. Ref.2
Corresponds to variant rs12200969 [ dbSNP | Ensembl ].
VAR_054426
Natural variant271H → R.
Corresponds to variant rs1186902 [ dbSNP | Ensembl ].
VAR_024361

Experimental info

Sequence conflict401G → GS in AAI30345. Ref.4
Sequence conflict424 – 4252MV → VM in BAG61047. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 10, 2009. Version 2.
Checksum: C0C1985F16C18231

FASTA47955,883
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B10A3E99D285154A
Show »

FASTA46253,732
Isoform 3 [UniParc].

Checksum: 691103DF1AA72646
Show »

FASTA39245,516

References

« Hide '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. 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] (ISOFORMS 2 AND 3), 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. expand/collapse author list , 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.
AK298948 mRNA. Translation: BAG61047.1.
AL353659, AL353135 Genomic DNA. Translation: CAC36328.3.
AL353135, AL353659 Genomic DNA. Translation: CAI16246.2.
BC130344 mRNA. Translation: AAI30345.1. Different initiation.
CCDSCCDS5019.2. [P24046-1]
CCDS59028.1. [P24046-3]
CCDS59029.1. [P24046-2]
PIRA38627.
RefSeqNP_001243632.1. NM_001256703.1. [P24046-2]
NP_001243633.1. NM_001256704.1. [P24046-3]
NP_001254511.1. NM_001267582.1. [P24046-3]
NP_002033.2. NM_002042.4. [P24046-1]
UniGeneHs.99927.

3D structure databases

ProteinModelPortalP24046.
SMRP24046. Positions 84-373.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108843. 13 interactions.
IntActP24046. 1 interaction.
STRING9606.ENSP00000412673.

Chemistry

BindingDBP24046.
ChEMBLCHEMBL2109242.
DrugBankDB00466. Picrotoxin.
GuidetoPHARMACOLOGY420.

PTM databases

PhosphoSiteP24046.

Polymorphism databases

DMDM223590210.

Proteomic databases

MaxQBP24046.
PaxDbP24046.
PRIDEP24046.

Protocols and materials databases

DNASU2569.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369451; ENSP00000358463; ENSG00000146276. [P24046-3]
ENST00000435811; ENSP00000394687; ENSG00000146276. [P24046-2]
ENST00000454853; ENSP00000412673; ENSG00000146276. [P24046-1]
GeneID2569.
KEGGhsa:2569.
UCSCuc003pna.2. human. [P24046-1]
uc011dzv.2. human. [P24046-2]

Organism-specific databases

CTD2569.
GeneCardsGC06M089944.
HGNCHGNC:4090. GABRR1.
MIM137161. gene.
neXtProtNX_P24046.
PharmGKBPA28505.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77438.
HOGENOMHOG000231335.
HOVERGENHBG051707.
InParanoidP24046.
KOK05190.
OMARMMVQLA.
OrthoDBEOG712TVZ.
PhylomeDBP24046.
TreeFamTF315453.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.
SignaLinkP24046.

Gene expression databases

ArrayExpressP24046.
BgeeP24046.
CleanExHS_GABRR1.
GenevestigatorP24046.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA/Glycine_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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSPR00253. GABAARECEPTR.
PR01670. GABAARRHO.
PR01671. GABAARRHO1.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRR1.
GenomeRNAi2569.
NextBio10161.
PROP24046.
SOURCESearch...

Entry information

Entry nameGBRR1_HUMAN
AccessionPrimary (citable) accession number: P24046
Secondary accession number(s): A1L401 expand/collapse secondary AC list , B4DJK8, B4DQT5, B7ZBQ7, Q9BX06
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: February 10, 2009
Last modified: July 9, 2014
This is version 141 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

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 6

Human chromosome 6: entries, gene names and cross-references to MIM