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Aliases & Descriptions for GABRB1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| GABA(A) receptor subunit beta-1 3 | | gamma-aminobutyric acid (GABA) A receptor, beta 1 2 | | gamma-aminobutyric acid A receptor, beta 1 1 |
|
| | Search outside databases for aliases for GABRB1 genePrevious GC identifers: GC04P047104 GC04P047342 GC04P046883 GC04P046949 GC04P046874 |
Summaries for GABRB1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GABRB1: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq] UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channelGene Wiki entry for GABRB1 |
Genomic Location for GABRB1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GABRB1 gene 
Entrez Gene cytogenetic band: 4p12 Ensembl cytogenetic band: 4p12 HGNC cytogenetic band: 4p12GABRB1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P046728:
(about GC identifiers)
Start:
|
46,728,336 bp from pter |
End:
|
47,123,202 bp from pter |
Size:
|
394,867 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_006238.10
| Proteins for GABRB1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505 (See
protein sequence)Recommended Name: Gamma-aminobutyric acid receptor subunit beta-1 precursor Size: 474 amino acids; 54235 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: B2R6U7 Q16166 Q8TBK3Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000803.2
ENSEMBL proteins: ENSP00000295454 ENSP00000370994
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for GABRB1: Assays for GABRB1: | Protein
Domains/ Families for GABRB1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P18505
ProtoNet protein and cluster: P18505 3 Blocks protein families: IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel
UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GABRB1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| Inhib. RNA: |  | Invitrogen RNAi Products for gene knock-down (GABRB1) | |  | Millipore RNAi Products for the Analysis of GABRB1 Gene knock-down | |  | Abnova Chimera RNAi Products for Gene knock-down (GABRB1) |               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000812
Applied Biosystems Silencer® siRNAs for GABRB1
Sigma-Aldrich siRNA and siRNA Panels for GABRB1  Sigma-Aldrich shRNA for GABRB1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000812                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000812                                  untagged cDNA clone in CMV expression vector: NM_000812 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000812
UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channelGenatlas biochemistry entry for GABRB1:gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta subunit 1,component of a pentameric receptor mediating inhibitory neurotransmission,(no evident association of GABRB1 polymorphism (H396Q) with schizophrenia)5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for GABRB1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for GABRB1 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for GABRB1 
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for GABRB1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for GABRB1 |
Compounds for GABRB1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Muscimol | Potent GABAA agonist | [2763-96-4] | | (+)-Bicuculline | Potent GABAA antagonist | [485-49-4] | | Indiplon | Subtype-selective GABAA receptor positive allosteric modulator | [325715-02-4] | | L-655,708 | Selective for alpha5-containing GABAA receptors | [130477-52-0] | | SR 95531 hydrobromide | Selective, competitive GABAA receptor antagonist | [104104-50-9] | About this table
|
Transcripts for GABRB1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
| Inhib. RNA: |  | Invitrogen RNAi Products for gene knock-down (GABRB1) | |  | Millipore RNAi Products for the Analysis of GABRB1 Gene knock-down | |  | Abnova Chimera RNAi Products for Gene knock-down (GABRB1) |               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000812
Sigma-Aldrich siRNA and siRNA Panels for GABRB1  Sigma-Aldrich shRNA for GABRB1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000812 REFSEQ mRNAs for GABRB1 gene: NM_000812.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000812               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000812                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000812                                  untagged cDNA clone in CMV expression vector: NM_000812  Additional cDNA sequence: AK127001.1 AK225167.1 AK225686.1 AK293691.1 AK296023.1 AK307120.1 AK312720.1 BC022449.1 CR614851.1 X14767.1 8 DOTS entries: DT.100736124 DT.121242475 DT.306766 DT.100651213 DT.95226531 DT.40110657 DT.86844311 DT.97804655 24 AceView cDNA sequences:CR614851 T48783 AU120212 BC022449 X14767 AU146340 BX493012 BI915562 CB117591 BP345257 AL539372 NM_000812 AU099641 AK127001 AL539373 BM925256 AW301170 BG709494 N55240 BG704311 R45230 BF364194 R24969 BP348730
highest scoring ESTs for GABRB1:X14767 AU146340 BC022449 R45230 AK127001 AL539372 AL539373 AU099641 BG704311 BG709494 Unigene Cluster for GABRB1: Gamma-aminobutyric acid (GABA) A receptor, beta 1 Hs.27283 [show with all ESTs]Unigene Representative Sequence: AK127001
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000295454
ENST00000381582
|
Expression for GABRB1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GABRB1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GABRB1
1 / 2 / 3 3 probe-sets matching GABRB1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTTACAAACA
SOURCE GeneReport for Unigene cluster: Hs.27283
Expression variation in blood from EXPOLDB for GABRB1 |
Orthologs for GABRB1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GABRB1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for GABRB1
ENSEMBL Gene Tree for GABRB1 | Paralogs for GABRB1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GABRB1 gene
- GABRB22 GABRB32
|
SNPs/Variants for GABRB1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GABRB1 (up to first 250kb)
|
Disorders & Mutations for GABRB1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 137190
Genetic Association Database: GABRB1 Human Genome Epidemiology Navigator: GABRB1 (10 documents)
|
Medical News for GABRB1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GABRB1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/39 PubMed articles for GABRB1 gene (see all 39
):- Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. (PubMed id 16278087)3, 6 Ren L....Shen Y. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (PubMed id 12601092)3, 6 Gambardella A....Quattrone A. (2003)
- Exonic variants of the GABA(B) receptor gene and panic disorder. (PubMed id 11324945)3, 6 Sand P.G....Deckert J. (2000)
- Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. (PubMed id 8178835)3, 4 Coon H.... Wender P. (1994)
- Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1). (PubMed id 1655634)3, 4 Kirkness E.F.... Venter J.C. (1991)
- Differential expression of gamma-aminobutyric acidA receptor subunits. (PubMed id 2160058)3, 4 Garrett K.M.... Blume A.J. (1990)
- Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. (PubMed id 2465923)3, 4 Schofield P.R....Seeburg P.H. (1989)
- Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. (PubMed id 10490712)1, 6 Parsian A. and Zhang Z.H. (1999)
- Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors. (PubMed id 18650446)3 Bracamontes J.R. and Steinbach J.H. (2008)
|
Search for GABRB1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GABRB1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GABRB1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GABRB1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Protein Spotlight | http://www.expasy.org/spotlight/back_issues/sptlt056.shtml |
|
| | | About This Section
| --
| Services for GABRB1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GABRB1:

|
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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