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Q99928 (GBRG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit gamma-3
Alternative name(s):
GABA(A) receptor subunit gamma-3
Gene names
Name:GABRG3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length467 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.

Subunit structure

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

Subcellular location

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

Post-translational modification

May be palmitoylated By similarity.

Miscellaneous

This subunit carries the benzodiazepine binding site.

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily. [View classification]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99928-1)

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: Q99928-2)

The sequence of this isoform differs from the canonical sequence as follows:
     239-253: DYVVMTIYFELSRRM → RNLLKEAQLSKAREA
     254-467: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 467450Gamma-aminobutyric acid receptor subunit gamma-3
PRO_0000000481

Regions

Topological domain18 – 254237Extracellular Probable
Transmembrane255 – 27723Helical; Probable
Transmembrane281 – 30323Helical; Probable
Transmembrane315 – 33723Helical; Probable
Topological domain338 – 443106Cytoplasmic Probable
Transmembrane444 – 46724Helical; Probable

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation2281N-linked (GlcNAc...) Potential
Disulfide bond171 ↔ 185 By similarity

Natural variations

Alternative sequence239 – 25315DYVVM…LSRRM → RNLLKEAQLSKAREA in isoform 2.
VSP_047543
Alternative sequence254 – 467214Missing in isoform 2.
VSP_047544
Natural variant3521T → A.
Corresponds to variant rs2066712 [ dbSNP | Ensembl ].
VAR_033957

Experimental info

Sequence conflict1721Q → R in BC045709. Ref.5
Sequence conflict3861T → P in AAB39369. Ref.1

Sequences

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

Last modified May 4, 2001. Version 2.
Checksum: 1B22D145166438D6

FASTA46754,289
        10         20         30         40         50         60 
MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI LNKLLREYDK 

        70         80         90        100        110        120 
KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ TWTDSRLRFN STMKILTLNS 

       130        140        150        160        170        180 
NMVGLIWIPD TIFRNSKTAE AHWITTPNQL LRIWNDGKIL YTLRLTINAE CQLQLHNFPM 

       190        200        210        220        230        240 
DEHSCPLIFS SYGYPKEEMI YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY 

       250        260        270        280        290        300 
VVMTIYFELS RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS 

       310        320        330        340        350        360 
TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK KTTSLLHPDS 

       370        380        390        400        410        420 
SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF EDTCVYECLD GKDCQSFFCC 

       430        440        450        460 
YEECKSGSWR KGRIHIDILE LDSYSRVFFP TSFLLFNLVY WVGYLYL 

« Hide

Isoform 2 [UniParc].

Checksum: BB0AE39434EE015F
Show »

FASTA25329,402

References

« Hide 'large scale' references
[1]"Expression and pharmacology of human GABAA receptors containing gamma 3 subunits."
Hadingham K.L., Wafford K.A., Thompson S.A., Palmer K.J., Whiting P.J.
Eur. J. Pharmacol. 291:301-309(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[2]"Gene structure and organization of the GABAA receptor gamma 3 subunit (GABRG3) gene."
Han M.K., Chen Y.-H., Nurmi E.L., Sutcliffe J.S.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton 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 (JUL-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] (ISOFORM 2).
[6]"Genomic organization of GABAA receptor gamma 3 subunit gene (GABRG3)."
Kim S.-J., Gonen D., Yang Z.-Y., Reliford A., Dy A., Leventhal B.L., Cook E.H. Jr.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-467.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S82769 mRNA. Translation: AAB39369.1.
AF269144 expand/collapse EMBL AC list , AF269135, AF269136, AF269137, AF269138, AF269139, AF269140, AF269141, AF269142, AF269143 Genomic DNA. Translation: AAF99698.1.
AC104002 Genomic DNA. No translation available.
AC127511 Genomic DNA. No translation available.
AC135326 Genomic DNA. No translation available.
AC136896 Genomic DNA. No translation available.
AC144833 Genomic DNA. No translation available.
AC145436 Genomic DNA. No translation available.
EU606049 Genomic DNA. No translation available.
CH471151 Genomic DNA. Translation: EAW57658.1.
BC045709 mRNA. No translation available.
AH009226 Genomic DNA. Translation: AAF63215.1.
RefSeqNP_001257802.1. NM_001270873.1.
NP_150092.2. NM_033223.4.
UniGeneHs.569475.

3D structure databases

ProteinModelPortalQ99928.
SMRQ99928. Positions 45-466.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000331912.

Chemistry

BindingDBQ99928.
ChEMBLCHEMBL2109243.
GuidetoPHARMACOLOGY415.

PTM databases

PhosphoSiteQ99928.

Polymorphism databases

DMDM13959689.

Proteomic databases

PaxDbQ99928.
PRIDEQ99928.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000333743; ENSP00000331912; ENSG00000182256. [Q99928-1]
ENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
GeneID2567.
KEGGhsa:2567.
UCSCuc001zbf.4. human.
uc001zbg.2. human. [Q99928-1]

Organism-specific databases

CTD2567.
GeneCardsGC15P027216.
H-InvDBHIX0026811.
HGNCHGNC:4088. GABRG3.
HPAHPA054010.
MIM600233. gene.
neXtProtNX_Q99928.
PharmGKBPA28502.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300758.
HOGENOMHOG000231337.
HOVERGENHBG051707.
InParanoidQ99928.
KOK05186.
OMAQTPSNYS.
OrthoDBEOG7JX342.
PhylomeDBQ99928.
TreeFamTF315453.

Enzyme and pathway databases

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

Gene expression databases

ArrayExpressQ99928.
BgeeQ99928.
CleanExHS_GABRG3.
GenevestigatorQ99928.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA_rcpt.
IPR005440. GABBAg3_rcpt.
IPR005437. GABBAg_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.
PR01620. GABAARGAMMA.
PR01623. GABAARGAMMA3.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRG3.
GenomeRNAi2567.
NextBio10153.
PROQ99928.
SOURCESearch...

Entry information

Entry nameGBRG3_HUMAN
AccessionPrimary (citable) accession number: Q99928
Secondary accession number(s): G3V594, Q9HD46, Q9NYT2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 4, 2001
Last modified: April 16, 2014
This is version 128 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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

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 15

Human chromosome 15: entries, gene names and cross-references to MIM