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P24046

- GBRR1_HUMAN

UniProt

P24046 - GBRR1_HUMAN

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Protein
Gamma-aminobutyric acid receptor subunit rho-1
Gene
GABRR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. GABA-A receptor activity Source: ProtInc
  2. chloride channel activity Source: UniProtKB-KW
  3. extracellular ligand-gated ion channel activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. gamma-aminobutyric acid signaling pathway Source: ProtInc
  2. ion transmembrane transport Source: Reactome
  3. synaptic transmission Source: Reactome
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_25168. GABA A (rho) receptor activation.
REACT_25387. Ligand-gated ion channel transport.
SignaLinkiP24046.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit rho-1
Alternative name(s):
GABA(A) receptor subunit rho-1
GABA(C) receptor
Gene namesi
Name:GABRR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4090. GABRR1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 281260Extracellular Inferred
Add
BLAST
Transmembranei282 – 30524Helical; Inferred
Add
BLAST
Transmembranei309 – 33123Helical; Inferred
Add
BLAST
Transmembranei343 – 36523Helical; Inferred
Add
BLAST
Topological domaini366 – 45792Cytoplasmic Inferred
Add
BLAST
Transmembranei458 – 47922Helical; Inferred
Add
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: ProtInc
  4. plasma membrane Source: Reactome
  5. postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28505.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 Reviewed prediction
Add
BLAST
Chaini22 – 479458Gamma-aminobutyric acid receptor subunit rho-1
PRO_0000000485Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi140 – 1401N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi198 ↔ 212 By similarity
Glycosylationi234 – 2341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi274 – 2741N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP24046.
PaxDbiP24046.
PRIDEiP24046.

PTM databases

PhosphoSiteiP24046.

Expressioni

Tissue specificityi

Highly expressed in the retina and in a lesser extent in brain, lung and thymus.

Gene expression databases

ArrayExpressiP24046.
BgeeiP24046.
CleanExiHS_GABRR1.
GenevestigatoriP24046.

Interactioni

Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 By similarity.

Protein-protein interaction databases

BioGridi108843. 13 interactions.
IntActiP24046. 1 interaction.
STRINGi9606.ENSP00000412673.

Structurei

3D structure databases

ProteinModelPortaliP24046.
SMRiP24046. Positions 84-373.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG77438.
HOGENOMiHOG000231335.
HOVERGENiHBG051707.
InParanoidiP24046.
KOiK05190.
OMAiRMMVQLA.
OrthoDBiEOG712TVZ.
PhylomeDBiP24046.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. 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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01670. GABAARRHO.
PR01671. GABAARRHO1.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P24046-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLAVPNMRFG IFLLWWGWVL ATESRMHWPG REVHEMSKKG RPQRQRREVH    50
EDAHKQVSPI LRRSPDITKS PLTKSEQLLR IDDHDFSMRP GFGGPAIPVG 100
VDVQVESLDS ISEVDMDFTM TLYLRHYWKD ERLSFPSTNN LSMTFDGRLV 150
KKIWVPDMFF VHSKRSFIHD TTTDNVMLRV QPDGKVLYSL RVTVTAMCNM 200
DFSRFPLDTQ TCSLEIESYA YTEDDLMLYW KKGNDSLKTD ERISLSQFLI 250
QEFHTTTKLA FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW 300
VSFWIDRRAV PARVPLGITT VLTMSTIITG VNASMPRVSY IKAVDIYLWV 350
SFVFVFLSVL EYAAVNYLTT VQERKEQKLR EKLPCTSGLP PPRTAMLDGN 400
YSDGEVNDLD NYMPENGEKP DRMMVQLTLA SERSSPQRKS QRSSYVSMRI 450
DTHAIDKYSR IIFPAAYILF NLIYWSIFS 479
Length:479
Mass (Da):55,883
Last modified:February 10, 2009 - v2
Checksum:iC0C1985F16C18231
GO
Isoform 2 (identifier: P24046-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:462
Mass (Da):53,732
Checksum:iB10A3E99D285154A
GO
Isoform 3 (identifier: P24046-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.

Note: No experimental confirmation available.

Show »
Length:392
Mass (Da):45,516
Checksum:i691103DF1AA72646
GO

Sequence cautioni

The sequence AAA52509.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAI30345.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261M → V.1 Publication
Corresponds to variant rs12200969 [ dbSNP | Ensembl ].
VAR_054426
Natural varianti27 – 271H → R.
Corresponds to variant rs1186902 [ dbSNP | Ensembl ].
VAR_024361

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8787Missing in isoform 3.
VSP_046665Add
BLAST
Alternative sequencei41 – 5717Missing in isoform 2.
VSP_036363Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401G → GS in AAI30345. 1 Publication
Sequence conflicti424 – 4252MV → VM in BAG61047. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5019.2. [P24046-1]
CCDS59028.1. [P24046-3]
CCDS59029.1. [P24046-2]
PIRiA38627.
RefSeqiNP_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]
UniGeneiHs.99927.

Genome annotation databases

EnsembliENST00000369451; ENSP00000358463; ENSG00000146276. [P24046-3]
ENST00000435811; ENSP00000394687; ENSG00000146276. [P24046-2]
ENST00000454853; ENSP00000412673; ENSG00000146276. [P24046-1]
GeneIDi2569.
KEGGihsa:2569.
UCSCiuc003pna.2. human. [P24046-1]
uc011dzv.2. human. [P24046-2]

Polymorphism databases

DMDMi223590210.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS5019.2. [P24046-1 ]
CCDS59028.1. [P24046-3 ]
CCDS59029.1. [P24046-2 ]
PIRi A38627.
RefSeqi NP_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 ]
UniGenei Hs.99927.

3D structure databases

ProteinModelPortali P24046.
SMRi P24046. Positions 84-373.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108843. 13 interactions.
IntActi P24046. 1 interaction.
STRINGi 9606.ENSP00000412673.

Chemistry

BindingDBi P24046.
ChEMBLi CHEMBL2109242.
DrugBanki DB00466. Picrotoxin.
GuidetoPHARMACOLOGYi 420.

PTM databases

PhosphoSitei P24046.

Polymorphism databases

DMDMi 223590210.

Proteomic databases

MaxQBi P24046.
PaxDbi P24046.
PRIDEi P24046.

Protocols and materials databases

DNASUi 2569.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369451 ; ENSP00000358463 ; ENSG00000146276 . [P24046-3 ]
ENST00000435811 ; ENSP00000394687 ; ENSG00000146276 . [P24046-2 ]
ENST00000454853 ; ENSP00000412673 ; ENSG00000146276 . [P24046-1 ]
GeneIDi 2569.
KEGGi hsa:2569.
UCSCi uc003pna.2. human. [P24046-1 ]
uc011dzv.2. human. [P24046-2 ]

Organism-specific databases

CTDi 2569.
GeneCardsi GC06M089944.
HGNCi HGNC:4090. GABRR1.
MIMi 137161. gene.
neXtProti NX_P24046.
PharmGKBi PA28505.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77438.
HOGENOMi HOG000231335.
HOVERGENi HBG051707.
InParanoidi P24046.
KOi K05190.
OMAi RMMVQLA.
OrthoDBi EOG712TVZ.
PhylomeDBi P24046.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_25168. GABA A (rho) receptor activation.
REACT_25387. Ligand-gated ion channel transport.
SignaLinki P24046.

Miscellaneous databases

GeneWikii GABRR1.
GenomeRNAii 2569.
NextBioi 10161.
PROi P24046.
SOURCEi Search...

Gene expression databases

ArrayExpressi P24046.
Bgeei P24046.
CleanExi HS_GABRR1.
Genevestigatori P24046.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. 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 ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view ]
PRINTSi PR00253. GABAARECEPTR.
PR01670. GABAARRHO.
PR01671. GABAARRHO1.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (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.
    , 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.

Entry informationi

Entry nameiGBRR1_HUMAN
AccessioniPrimary (citable) accession number: P24046
Secondary accession number(s): A1L401
, B4DJK8, B4DQT5, B7ZBQ7, Q9BX06
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: February 10, 2009
Last modified: September 3, 2014
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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