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O00591 (GBRP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

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

Protein attributes

Sequence length440 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein 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. 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.

Subunit structure

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.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Chain17 – 440424Gamma-aminobutyric acid receptor subunit pi
PRO_0000000492

Regions

Topological domain17 – 242226Extracellular Potential
Transmembrane243 – 26624Helical; Potential
Transmembrane270 – 29223Helical; Potential
Transmembrane305 – 32723Helical; Potential
Topological domain328 – 41689Cytoplasmic Potential
Transmembrane417 – 43822Helical; Potential

Amino acid modifications

Glycosylation431N-linked (GlcNAc...) Potential
Glycosylation1021N-linked (GlcNAc...) Potential
Glycosylation1451N-linked (GlcNAc...) Potential
Glycosylation1961N-linked (GlcNAc...) Potential
Glycosylation2281N-linked (GlcNAc...) Potential
Disulfide bond160 ↔ 174 By similarity

Natural variations

Natural variant3911F → L. Ref.5
Corresponds to variant rs1063310 [ dbSNP | Ensembl ].
VAR_020323
Natural variant4161H → R in a breast cancer sample; somatic mutation. Ref.6
VAR_036034

Sequences

Sequence LengthMass (Da)Tools
O00591 [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: 92CA66C264560718

FASTA44050,640
        10         20         30         40         50         60 
MNYSLHLAFV CLSLFTERMC IQGSQFNVEV GRSDKLSLPG FENLTAGYNK FLRPNFGGEP 

        70         80         90        100        110        120 
VQIALTLDIA SISSISESNM DYTATIYLRQ RWMDQRLVFE GNKSFTLDAR LVEFLWVPDT 

       130        140        150        160        170        180 
YIVESKKSFL HEVTVGNRLI RLFSNGTVLY ALRITTTVAC NMDLSKYPMD TQTCKLQLES 

       190        200        210        220        230        240 
WGYDGNDVEF TWLRGNDSVR GLEHLRLAQY TIERYFTLVT RSQQETGNYT RLVLQFELRR 

       250        260        270        280        290        300 
NVLYFILETY VPSTFLVVLS WVSFWISLDS VPARTCIGVT TVLSMTTLMI GSRTSLPNTN 

       310        320        330        340        350        360 
CFIKAIDVYL GICFSFVFGA LLEYAVAHYS SLQQMAAKDR GTTKEVEEVS ITNIINSSIS 

       370        380        390        400        410        420 
SFKRKISFAS IEISSDNVDY SDLTMKTSDK FKFVFREKMG RIVDYFTIQN PSNVDHYSKL 

       430        440 
LFPLIFMLAN VFYWAYYMYF 

« Hide

References

« Hide 'large scale' references
[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. 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].
Tissue: Trachea.
[4]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. expand/collapse author list , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-416.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U95367 mRNA. Translation: AAC51357.1.
AF009702 expand/collapse EMBL AC list , 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.
CCDSCCDS4375.1.
RefSeqNP_055026.1. NM_014211.2.
UniGeneHs.26225.

3D structure databases

ProteinModelPortalO00591.
SMRO00591. Positions 44-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000265294.

Chemistry

BindingDBO00591.
ChEMBLCHEMBL2093872.
GuidetoPHARMACOLOGY419.

PTM databases

PhosphoSiteO00591.

Proteomic databases

MaxQBO00591.
PaxDbO00591.
PRIDEO00591.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265294; ENSP00000265294; ENSG00000094755.
ENST00000518525; ENSP00000430100; ENSG00000094755.
GeneID2568.
KEGGhsa:2568.
UCSCuc003mau.3. human.

Organism-specific databases

CTD2568.
GeneCardsGC05P170143.
HGNCHGNC:4089. GABRP.
HPACAB014883.
MIM602729. gene.
neXtProtNX_O00591.
PharmGKBPA28503.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255582.
HOGENOMHOG000231335.
HOVERGENHBG051707.
InParanoidO00591.
KOK05189.
OMANDVEFSW.
PhylomeDBO00591.
TreeFamTF315453.

Gene expression databases

ArrayExpressO00591.
BgeeO00591.
CleanExHS_GABRP.
GenevestigatorO00591.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. 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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00253. GABAARECEPTR.
PR01724. GABAARPI.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRP.
GenomeRNAi2568.
NextBio10157.
PROO00591.
SOURCESearch...

Entry information

Entry nameGBRP_HUMAN
AccessionPrimary (citable) accession number: O00591
Secondary accession number(s): A8KA36, D3DQL2, Q32MJ1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 1, 1997
Last modified: July 9, 2014
This is version 129 of the entry and version 1 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 5

Human chromosome 5: entries, gene names and cross-references to MIM