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Q99928

- GBRG3_HUMAN

UniProt

Q99928 - GBRG3_HUMAN

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Protein
Gamma-aminobutyric acid receptor subunit gamma-3
Gene
GABRG3
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.

GO - Molecular functioni

  1. GABA-A receptor activity Source: Ensembl
  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: InterPro
  2. ion transmembrane transport Source: Reactome
  3. response to drug Source: Ensembl
  4. synaptic transmission Source: Reactome
  5. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit gamma-3
Alternative name(s):
GABA(A) receptor subunit gamma-3
Gene namesi
Name:GABRG3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:4088. GABRG3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 254237Extracellular Inferred
Add
BLAST
Transmembranei255 – 27723Helical; Inferred
Add
BLAST
Transmembranei281 – 30323Helical; Inferred
Add
BLAST
Transmembranei315 – 33723Helical; Inferred
Add
BLAST
Topological domaini338 – 443106Cytoplasmic Inferred
Add
BLAST
Transmembranei444 – 46724Helical; Inferred
Add
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
  4. 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

PharmGKBiPA28502.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717 Reviewed prediction
Add
BLAST
Chaini18 – 467450Gamma-aminobutyric acid receptor subunit gamma-3
PRO_0000000481Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi171 ↔ 185 By similarity
Glycosylationi228 – 2281N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

May be palmitoylated By similarity.

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ99928.
PRIDEiQ99928.

PTM databases

PhosphoSiteiQ99928.

Expressioni

Gene expression databases

ArrayExpressiQ99928.
BgeeiQ99928.
CleanExiHS_GABRG3.
GenevestigatoriQ99928.

Organism-specific databases

HPAiHPA054010.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000331912.

Structurei

3D structure databases

ProteinModelPortaliQ99928.
SMRiQ99928. Positions 45-345.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG300758.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ99928.
KOiK05186.
OMAiDACVYEC.
OrthoDBiEOG7JX342.
PhylomeDBiQ99928.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01623. GABAARGAMMA3.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q99928-1) [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

MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI    50
LNKLLREYDK KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ 100
TWTDSRLRFN STMKILTLNS NMVGLIWIPD TIFRNSKTAE AHWITTPNQL 150
LRIWNDGKIL YTLRLTINAE CQLQLHNFPM DEHSCPLIFS SYGYPKEEMI 200
YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY VVMTIYFELS 250
RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS 300
TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK 350
KTTSLLHPDS SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF 400
EDTCVYECLD GKDCQSFFCC YEECKSGSWR KGRIHIDILE LDSYSRVFFP 450
TSFLLFNLVY WVGYLYL 467
Length:467
Mass (Da):54,289
Last modified:May 4, 2001 - v2
Checksum:i1B22D145166438D6
GO
Isoform 2 (identifier: Q99928-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-253: DYVVMTIYFELSRRM → RNLLKEAQLSKAREA
     254-467: Missing.

Note: No experimental confirmation available.

Show »
Length:253
Mass (Da):29,402
Checksum:iBB0AE39434EE015F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti352 – 3521T → A.
Corresponds to variant rs2066712 [ dbSNP | Ensembl ].
VAR_033957

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei239 – 25315DYVVM…LSRRM → RNLLKEAQLSKAREA in isoform 2.
VSP_047543Add
BLAST
Alternative sequencei254 – 467214Missing in isoform 2.
VSP_047544Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti172 – 1721Q → R in BC045709. 1 Publication
Sequence conflicti386 – 3861T → P in AAB39369. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S82769 mRNA. Translation: AAB39369.1.
AF269144
, 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.
CCDSiCCDS45195.1. [Q99928-1]
CCDS59251.1. [Q99928-2]
RefSeqiNP_001257802.1. NM_001270873.1. [Q99928-2]
NP_150092.2. NM_033223.4. [Q99928-1]
UniGeneiHs.569475.

Genome annotation databases

EnsembliENST00000333743; ENSP00000331912; ENSG00000182256. [Q99928-1]
ENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
GeneIDi2567.
KEGGihsa:2567.
UCSCiuc001zbf.4. human.
uc001zbg.2. human. [Q99928-1]

Polymorphism databases

DMDMi13959689.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S82769 mRNA. Translation: AAB39369.1 .
AF269144
, 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 .
CCDSi CCDS45195.1. [Q99928-1 ]
CCDS59251.1. [Q99928-2 ]
RefSeqi NP_001257802.1. NM_001270873.1. [Q99928-2 ]
NP_150092.2. NM_033223.4. [Q99928-1 ]
UniGenei Hs.569475.

3D structure databases

ProteinModelPortali Q99928.
SMRi Q99928. Positions 45-345.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000331912.

Chemistry

BindingDBi Q99928.
ChEMBLi CHEMBL2109243.
GuidetoPHARMACOLOGYi 415.

PTM databases

PhosphoSitei Q99928.

Polymorphism databases

DMDMi 13959689.

Proteomic databases

PaxDbi Q99928.
PRIDEi Q99928.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000333743 ; ENSP00000331912 ; ENSG00000182256 . [Q99928-1 ]
ENST00000555083 ; ENSP00000452244 ; ENSG00000182256 . [Q99928-2 ]
GeneIDi 2567.
KEGGi hsa:2567.
UCSCi uc001zbf.4. human.
uc001zbg.2. human. [Q99928-1 ]

Organism-specific databases

CTDi 2567.
GeneCardsi GC15P027216.
GeneReviewsi GABRG3.
H-InvDB HIX0026811.
HGNCi HGNC:4088. GABRG3.
HPAi HPA054010.
MIMi 600233. gene.
neXtProti NX_Q99928.
PharmGKBi PA28502.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG300758.
HOGENOMi HOG000231337.
HOVERGENi HBG051707.
InParanoidi Q99928.
KOi K05186.
OMAi DACVYEC.
OrthoDBi EOG7JX342.
PhylomeDBi Q99928.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Miscellaneous databases

GeneWikii GABRG3.
GenomeRNAii 2567.
NextBioi 10153.
PROi Q99928.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q99928.
Bgeei Q99928.
CleanExi HS_GABRG3.
Genevestigatori Q99928.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_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 ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01623. GABAARGAMMA3.
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. "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.
    , 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. 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.

Entry informationi

Entry nameiGBRG3_HUMAN
AccessioniPrimary (citable) accession number: Q99928
Secondary accession number(s): G3V594, Q9HD46, Q9NYT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 4, 2001
Last modified: September 3, 2014
This is version 132 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

Miscellaneous

This subunit carries the benzodiazepine binding site.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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