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Q8N1C3

- GBRG1_HUMAN

UniProt

Q8N1C3 - GBRG1_HUMAN

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Protein

Gamma-aminobutyric acid receptor subunit gamma-1

Gene
GABRG1
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. chloride channel activity Source: UniProtKB-KW
  2. extracellular ligand-gated ion channel activity Source: InterPro
  3. GABA-A receptor activity Source: Ensembl

GO - Biological processi

  1. gamma-aminobutyric acid signaling pathway Source: InterPro
  2. synaptic transmission Source: Ensembl
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 gamma-1
Alternative name(s):
GABA(A) receptor subunit gamma-1
Gene namesi
Name:GABRG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:4086. GABRG1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini36 – 272237Extracellular InferredAdd
BLAST
Transmembranei273 – 29422Helical; InferredAdd
BLAST
Transmembranei299 – 32022Helical; InferredAdd
BLAST
Transmembranei332 – 35423Helical; InferredAdd
BLAST
Topological domaini355 – 44490Cytoplasmic InferredAdd
BLAST
Transmembranei445 – 46521Helical; InferredAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28500.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3535 Reviewed predictionAdd
BLAST
Chaini36 – 465430Gamma-aminobutyric acid receptor subunit gamma-1PRO_0000000473Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi50 – 501N-linked (GlcNAc...) Reviewed prediction
Glycosylationi127 – 1271N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi188 ↔ 202 By similarity
Glycosylationi245 – 2451N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

May be palmitoylated By similarity.

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ8N1C3.
PRIDEiQ8N1C3.

PTM databases

PhosphoSiteiQ8N1C3.

Expressioni

Gene expression databases

BgeeiQ8N1C3.
CleanExiHS_GABRG1.
GenevestigatoriQ8N1C3.

Organism-specific databases

HPAiHPA035622.

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.ENSP00000295452.

Structurei

3D structure databases

ProteinModelPortaliQ8N1C3.
SMRiQ8N1C3. Positions 65-362.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238757.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiQ8N1C3.
KOiK05186.
OMAiHYFTSNK.
OrthoDBiEOG7JX342.
PhylomeDBiQ8N1C3.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. 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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00253. GABAARECEPTR.
PR01620. GABAARGAMMA.
PR01621. GABAARGAMMA1.
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.

Q8N1C3-1 [UniParc]FASTAAdd to Basket

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MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN    50
KTWVLAPKIH EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG 100
PVDPINMEYT IDIIFAQTWF DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF 150
RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL RLTINAECYL QLHNFPMDEH 200
SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF VGLRNSTEIT 250
HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP 300
ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME 350
YGTLHYFTSN QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED 400
DYGYQCLEGK DCASFFCCFE DCRTGSWREG RIHIRIAKID SYSRIFFPTA 450
FALFNLVYWV GYLYL 465
Length:465
Mass (Da):53,595
Last modified:October 14, 2008 - v2
Checksum:i6C322FF55704FA57
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti403 – 4031G → E.1 Publication
Corresponds to variant rs17852913 [ dbSNP | Ensembl ].
VAR_047056

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK122845 mRNA. Translation: BAG53758.1.
CR933628 mRNA. Translation: CAI45936.1.
CH471069 Genomic DNA. Translation: EAW93021.1.
BC031087 mRNA. Translation: AAH31087.1.
CCDSiCCDS3470.1.
RefSeqiNP_775807.2. NM_173536.3.
UniGeneiHs.375051.

Genome annotation databases

EnsembliENST00000295452; ENSP00000295452; ENSG00000163285.
GeneIDi2565.
KEGGihsa:2565.
UCSCiuc003gxb.3. human.

Polymorphism databases

DMDMi209572630.

Keywords - Coding sequence diversityi

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
AK122845 mRNA. Translation: BAG53758.1 .
CR933628 mRNA. Translation: CAI45936.1 .
CH471069 Genomic DNA. Translation: EAW93021.1 .
BC031087 mRNA. Translation: AAH31087.1 .
CCDSi CCDS3470.1.
RefSeqi NP_775807.2. NM_173536.3.
UniGenei Hs.375051.

3D structure databases

ProteinModelPortali Q8N1C3.
SMRi Q8N1C3. Positions 65-362.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000295452.

Chemistry

BindingDBi Q8N1C3.
ChEMBLi CHEMBL2093872.
GuidetoPHARMACOLOGYi 413.

PTM databases

PhosphoSitei Q8N1C3.

Polymorphism databases

DMDMi 209572630.

Proteomic databases

PaxDbi Q8N1C3.
PRIDEi Q8N1C3.

Protocols and materials databases

DNASUi 2565.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295452 ; ENSP00000295452 ; ENSG00000163285 .
GeneIDi 2565.
KEGGi hsa:2565.
UCSCi uc003gxb.3. human.

Organism-specific databases

CTDi 2565.
GeneCardsi GC04M045953.
HGNCi HGNC:4086. GABRG1.
HPAi HPA035622.
MIMi 137166. gene.
neXtProti NX_Q8N1C3.
PharmGKBi PA28500.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238757.
HOGENOMi HOG000231337.
HOVERGENi HBG051707.
InParanoidi Q8N1C3.
KOi K05186.
OMAi HYFTSNK.
OrthoDBi EOG7JX342.
PhylomeDBi Q8N1C3.
TreeFami TF315453.

Miscellaneous databases

GeneWikii GABRG1.
GenomeRNAii 2565.
NextBioi 10141.
PROi Q8N1C3.
SOURCEi Search...

Gene expression databases

Bgeei Q8N1C3.
CleanExi HS_GABRG1.
Genevestigatori Q8N1C3.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. 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 ]
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.
PR01621. GABAARGAMMA1.
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

  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Amygdala.
  3. 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.

Entry informationi

Entry nameiGBRG1_HUMAN
AccessioniPrimary (citable) accession number: Q8N1C3
Secondary accession number(s): Q5H9T8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: October 14, 2008
Last modified: September 3, 2014
This is version 119 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 4
    Human chromosome 4: 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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