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Q8N1C3 (GBRG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. 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·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit gamma-1
Alternative name(s):
GABA(A) receptor subunit gamma-1
Gene names
Name:GABRG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length465 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. GABRG1 sub-subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3535 Potential
Chain36 – 465430Gamma-aminobutyric acid receptor subunit gamma-1
PRO_0000000473

Regions

Topological domain36 – 272237Extracellular Probable
Transmembrane273 – 29422Helical; Probable
Transmembrane299 – 32022Helical; Probable
Transmembrane332 – 35423Helical; Probable
Topological domain355 – 44490Cytoplasmic Probable
Transmembrane445 – 46521Helical; Probable

Amino acid modifications

Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation1271N-linked (GlcNAc...) Potential
Glycosylation2451N-linked (GlcNAc...) Potential
Disulfide bond188 ↔ 202 By similarity

Natural variations

Natural variant4031G → E. Ref.4
Corresponds to variant rs17852913 [ dbSNP | Ensembl ].
VAR_047056

Sequences

Sequence LengthMass (Da)Tools
Q8N1C3 [UniParc].

Last modified October 14, 2008. Version 2.
Checksum: 6C322FF55704FA57

FASTA46553,595
        10         20         30         40         50         60 
MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN KTWVLAPKIH 

        70         80         90        100        110        120 
EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG PVDPINMEYT IDIIFAQTWF 

       130        140        150        160        170        180 
DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL 

       190        200        210        220        230        240 
RLTINAECYL QLHNFPMDEH SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF 

       250        260        270        280        290        300 
VGLRNSTEIT HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP 

       310        320        330        340        350        360 
ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME YGTLHYFTSN 

       370        380        390        400        410        420 
QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED DYGYQCLEGK DCASFFCCFE 

       430        440        450        460 
DCRTGSWREG RIHIRIAKID SYSRIFFPTA FALFNLVYWV GYLYL 

« Hide

References

[1]"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: Brain.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Amygdala.
[3]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
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], VARIANT GLU-403.
Tissue: Brain.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK122845 mRNA. Translation: BAG53758.1.
CR933628 mRNA. Translation: CAI45936.1.
CH471069 Genomic DNA. Translation: EAW93021.1.
BC031087 mRNA. Translation: AAH31087.1.
CCDSCCDS3470.1.
RefSeqNP_775807.2. NM_173536.3.
UniGeneHs.375051.

3D structure databases

ProteinModelPortalQ8N1C3.
SMRQ8N1C3. Positions 65-362.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000295452.

Chemistry

BindingDBQ8N1C3.
ChEMBLCHEMBL2093872.

PTM databases

PhosphoSiteQ8N1C3.

Polymorphism databases

DMDM209572630.

Proteomic databases

PaxDbQ8N1C3.
PRIDEQ8N1C3.

Protocols and materials databases

DNASU2565.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295452; ENSP00000295452; ENSG00000163285.
GeneID2565.
KEGGhsa:2565.
UCSCuc003gxb.3. human.

Organism-specific databases

CTD2565.
GeneCardsGC04M045953.
HGNCHGNC:4086. GABRG1.
HPAHPA035622.
MIM137166. gene.
neXtProtNX_Q8N1C3.
PharmGKBPA28500.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238757.
HOGENOMHOG000231337.
HOVERGENHBG051707.
InParanoidQ8N1C3.
KOK05186.
OMAHYFTSNK.
OrthoDBEOG7JX342.
PhylomeDBQ8N1C3.
TreeFamTF315453.

Gene expression databases

BgeeQ8N1C3.
CleanExHS_GABRG1.
GenevestigatorQ8N1C3.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA/Glycine_rcpt.
IPR005438. GABBAg1_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.
PR01621. GABAARGAMMA1.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRG1.
GenomeRNAi2565.
NextBio10141.
PROQ8N1C3.
SOURCESearch...

Entry information

Entry nameGBRG1_HUMAN
AccessionPrimary (citable) accession number: Q8N1C3
Secondary accession number(s): Q5H9T8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 118 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 4

Human chromosome 4: entries, gene names and cross-references to MIM