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O00591

- GBRP_HUMAN

UniProt

O00591 - GBRP_HUMAN

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Protein

Gamma-aminobutyric acid receptor subunit pi

Gene

GABRP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein 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. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

GO - Molecular functioni

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

GO - Biological processi

  1. signal transduction Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit pi
Alternative name(s):
GABA(A) receptor subunit pi
Gene namesi
Name:GABRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:4089. GABRP.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28503.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1616Sequence AnalysisAdd
BLAST
Chaini17 – 440424Gamma-aminobutyric acid receptor subunit piPRO_0000000492Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi43 – 431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis
Glycosylationi145 – 1451N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi160 ↔ 174By similarity
Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO00591.
PaxDbiO00591.
PRIDEiO00591.

PTM databases

PhosphoSiteiO00591.

Expressioni

Tissue specificityi

Most abundant in the uterus, also expressed in lung, thymus and prostate.

Gene expression databases

BgeeiO00591.
CleanExiHS_GABRP.
ExpressionAtlasiO00591. baseline and differential.
GenevestigatoriO00591.

Organism-specific databases

HPAiCAB014883.

Interactioni

Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.

Protein-protein interaction databases

STRINGi9606.ENSP00000265294.

Structurei

3D structure databases

ProteinModelPortaliO00591.
SMRiO00591. Positions 37-438.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini17 – 242226ExtracellularSequence AnalysisAdd
BLAST
Topological domaini328 – 41689CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei243 – 26624HelicalSequence AnalysisAdd
BLAST
Transmembranei270 – 29223HelicalSequence AnalysisAdd
BLAST
Transmembranei305 – 32723HelicalSequence AnalysisAdd
BLAST
Transmembranei417 – 43822HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG255582.
GeneTreeiENSGT00760000118821.
HOGENOMiHOG000231335.
HOVERGENiHBG051707.
InParanoidiO00591.
KOiK05189.
OMAiNDVEFSW.
PhylomeDBiO00591.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR008100. GABAAp_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. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01724. GABAARPI.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

O00591-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNYSLHLAFV CLSLFTERMC IQGSQFNVEV GRSDKLSLPG FENLTAGYNK
60 70 80 90 100
FLRPNFGGEP VQIALTLDIA SISSISESNM DYTATIYLRQ RWMDQRLVFE
110 120 130 140 150
GNKSFTLDAR LVEFLWVPDT YIVESKKSFL HEVTVGNRLI RLFSNGTVLY
160 170 180 190 200
ALRITTTVAC NMDLSKYPMD TQTCKLQLES WGYDGNDVEF TWLRGNDSVR
210 220 230 240 250
GLEHLRLAQY TIERYFTLVT RSQQETGNYT RLVLQFELRR NVLYFILETY
260 270 280 290 300
VPSTFLVVLS WVSFWISLDS VPARTCIGVT TVLSMTTLMI GSRTSLPNTN
310 320 330 340 350
CFIKAIDVYL GICFSFVFGA LLEYAVAHYS SLQQMAAKDR GTTKEVEEVS
360 370 380 390 400
ITNIINSSIS SFKRKISFAS IEISSDNVDY SDLTMKTSDK FKFVFREKMG
410 420 430 440
RIVDYFTIQN PSNVDHYSKL LFPLIFMLAN VFYWAYYMYF
Length:440
Mass (Da):50,640
Last modified:July 1, 1997 - v1
Checksum:i92CA66C264560718
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti391 – 3911F → L.1 Publication
Corresponds to variant rs1063310 [ dbSNP | Ensembl ].
VAR_020323
Natural varianti416 – 4161H → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_036034

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95367 mRNA. Translation: AAC51357.1.
AF009702
, AF009694, AF009695, AF009696, AF009697, AF009698, AF009699, AF009700, AF009701 Genomic DNA. Translation: AAC24194.1.
AK292901 mRNA. Translation: BAF85590.1.
CH471062 Genomic DNA. Translation: EAW61467.1.
CH471062 Genomic DNA. Translation: EAW61468.1.
BC074810 mRNA. Translation: AAH74810.1.
BC074865 mRNA. Translation: AAH74865.1.
BC109105 mRNA. Translation: AAI09106.1.
BC109106 mRNA. Translation: AAI09107.1.
CCDSiCCDS4375.1.
RefSeqiNP_001278914.1. NM_001291985.1.
NP_055026.1. NM_014211.2.
UniGeneiHs.26225.

Genome annotation databases

EnsembliENST00000265294; ENSP00000265294; ENSG00000094755.
ENST00000518525; ENSP00000430100; ENSG00000094755.
GeneIDi2568.
KEGGihsa:2568.
UCSCiuc003mau.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95367 mRNA. Translation: AAC51357.1 .
AF009702
, AF009694 , AF009695 , AF009696 , AF009697 , AF009698 , AF009699 , AF009700 , AF009701 Genomic DNA. Translation: AAC24194.1 .
AK292901 mRNA. Translation: BAF85590.1 .
CH471062 Genomic DNA. Translation: EAW61467.1 .
CH471062 Genomic DNA. Translation: EAW61468.1 .
BC074810 mRNA. Translation: AAH74810.1 .
BC074865 mRNA. Translation: AAH74865.1 .
BC109105 mRNA. Translation: AAI09106.1 .
BC109106 mRNA. Translation: AAI09107.1 .
CCDSi CCDS4375.1.
RefSeqi NP_001278914.1. NM_001291985.1.
NP_055026.1. NM_014211.2.
UniGenei Hs.26225.

3D structure databases

ProteinModelPortali O00591.
SMRi O00591. Positions 37-438.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000265294.

Chemistry

BindingDBi O00591.
ChEMBLi CHEMBL2093872.
DrugBanki DB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB00543. Amoxapine.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
DB01215. Estazolam.
DB00402. Eszopiclone.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01567. Fludiazepam.
DB01205. Flumazenil.
DB00690. Flurazepam.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.
GuidetoPHARMACOLOGYi 419.

PTM databases

PhosphoSitei O00591.

Proteomic databases

MaxQBi O00591.
PaxDbi O00591.
PRIDEi O00591.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265294 ; ENSP00000265294 ; ENSG00000094755 .
ENST00000518525 ; ENSP00000430100 ; ENSG00000094755 .
GeneIDi 2568.
KEGGi hsa:2568.
UCSCi uc003mau.3. human.

Organism-specific databases

CTDi 2568.
GeneCardsi GC05P170143.
HGNCi HGNC:4089. GABRP.
HPAi CAB014883.
MIMi 602729. gene.
neXtProti NX_O00591.
PharmGKBi PA28503.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG255582.
GeneTreei ENSGT00760000118821.
HOGENOMi HOG000231335.
HOVERGENi HBG051707.
InParanoidi O00591.
KOi K05189.
OMAi NDVEFSW.
PhylomeDBi O00591.
TreeFami TF315453.

Miscellaneous databases

GeneWikii GABRP.
GenomeRNAii 2568.
NextBioi 10157.
PROi O00591.
SOURCEi Search...

Gene expression databases

Bgeei O00591.
CleanExi HS_GABRP.
ExpressionAtlasi O00591. baseline and differential.
Genevestigatori O00591.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_rcpt.
IPR008100. GABAAp_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. 1 hit.
[Graphical view ]
PRINTSi PR00253. GABAARECEPTR.
PR01724. GABAARPI.
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. "A novel class of GABAA receptor subunit in tissues of the reproductive system."
    Hedblom E., Kirkness E.F.
    J. Biol. Chem. 272:15346-15350(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Structure and localization of the gene encoding the human GABA-A receptor pi subunit (GABRP)."
    Johnson E.K., Hedblom E., Kirkness E.F.
    Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
    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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Trachea.
  4. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-391.
    Tissue: Lung.
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-416.

Entry informationi

Entry nameiGBRP_HUMAN
AccessioniPrimary (citable) accession number: O00591
Secondary accession number(s): A8KA36, D3DQL2, Q32MJ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 1, 1997
Last modified: October 29, 2014
This is version 131 of the entry and version 1 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 5
    Human chromosome 5: 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