Details for: GABRB1

Gene ID: 2560

Symbol: GABRB1

Ensembl ID: ENSG00000163288

Description: gamma-aminobutyric acid type A receptor subunit beta1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 270.0248
    Cell Significance Index: -68.4900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 5.7252
    Cell Significance Index: 80.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.3837
    Cell Significance Index: 193.9000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.2770
    Cell Significance Index: 161.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 4.2182
    Cell Significance Index: 283.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 4.1719
    Cell Significance Index: 1496.4000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 3.4464
    Cell Significance Index: 98.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.2810
    Cell Significance Index: 658.1600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 3.1084
    Cell Significance Index: 2149.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.4146
    Cell Significance Index: 108.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1937
    Cell Significance Index: 73.3700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.1080
    Cell Significance Index: 14.7800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.6697
    Cell Significance Index: 16.0600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.5660
    Cell Significance Index: 7.3400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5235
    Cell Significance Index: 472.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3730
    Cell Significance Index: 169.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2762
    Cell Significance Index: 54.8200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.1387
    Cell Significance Index: 1.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1342
    Cell Significance Index: 13.2800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1296
    Cell Significance Index: 24.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0503
    Cell Significance Index: 8.1900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0058
    Cell Significance Index: -0.1000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0160
    Cell Significance Index: -0.6900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0240
    Cell Significance Index: -0.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0311
    Cell Significance Index: -58.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0363
    Cell Significance Index: -66.8600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0388
    Cell Significance Index: -0.6700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0414
    Cell Significance Index: -1.3300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0439
    Cell Significance Index: -67.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0532
    Cell Significance Index: -72.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0973
    Cell Significance Index: -71.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1104
    Cell Significance Index: -70.1500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1111
    Cell Significance Index: -84.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1142
    Cell Significance Index: -84.6200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1288
    Cell Significance Index: -3.7100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1309
    Cell Significance Index: -57.8600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1446
    Cell Significance Index: -90.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1505
    Cell Significance Index: -84.8500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1994
    Cell Significance Index: -57.3600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2194
    Cell Significance Index: -2.3900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.2515
    Cell Significance Index: -27.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.3496
    Cell Significance Index: -63.0300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3532
    Cell Significance Index: -4.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3662
    Cell Significance Index: -10.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3816
    Cell Significance Index: -9.5400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3870
    Cell Significance Index: -7.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3949
    Cell Significance Index: -17.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4017
    Cell Significance Index: -84.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4592
    Cell Significance Index: -66.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4606
    Cell Significance Index: -47.9600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4684
    Cell Significance Index: -60.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.4758
    Cell Significance Index: -81.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.4982
    Cell Significance Index: -68.4100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4994
    Cell Significance Index: -10.6000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.5044
    Cell Significance Index: -7.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.5294
    Cell Significance Index: -65.1000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.5391
    Cell Significance Index: -6.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.6085
    Cell Significance Index: -78.6100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.6093
    Cell Significance Index: -8.5400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.7065
    Cell Significance Index: -48.8600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.7082
    Cell Significance Index: -83.5200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7353
    Cell Significance Index: -14.5400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.7475
    Cell Significance Index: -16.1500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.7497
    Cell Significance Index: -85.8900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7552
    Cell Significance Index: -10.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.7982
    Cell Significance Index: -81.5400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8242
    Cell Significance Index: -26.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.8363
    Cell Significance Index: -59.1500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.8925
    Cell Significance Index: -8.4600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.8948
    Cell Significance Index: -53.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9067
    Cell Significance Index: -55.5900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9297
    Cell Significance Index: -30.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.9581
    Cell Significance Index: -75.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0504
    Cell Significance Index: -55.1500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.0549
    Cell Significance Index: -78.6200
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -1.0985
    Cell Significance Index: -8.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.1138
    Cell Significance Index: -24.1300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -1.1257
    Cell Significance Index: -28.0800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1538
    Cell Significance Index: -40.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.2237
    Cell Significance Index: -68.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.2799
    Cell Significance Index: -82.5800
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -1.3107
    Cell Significance Index: -16.5400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -1.3170
    Cell Significance Index: -15.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.3743
    Cell Significance Index: -86.6200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -1.5650
    Cell Significance Index: -23.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.6365
    Cell Significance Index: -76.9200
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -1.6585
    Cell Significance Index: -18.4300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.6654
    Cell Significance Index: -77.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.7601
    Cell Significance Index: -91.4300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -1.7681
    Cell Significance Index: -11.9800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.9071
    Cell Significance Index: -39.5600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.9262
    Cell Significance Index: -70.7100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -1.9337
    Cell Significance Index: -38.0600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.9724
    Cell Significance Index: -50.7000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -1.9851
    Cell Significance Index: -41.4300
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -2.0248
    Cell Significance Index: -22.3400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -2.2439
    Cell Significance Index: -44.7500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -2.3403
    Cell Significance Index: -30.0100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -2.3846
    Cell Significance Index: -75.4200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -2.4904
    Cell Significance Index: -54.5300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Subunit composition**: GABRB1 is a subunit of the GABA-A receptor, which consists of multiple subunits (e.g., GABRB1, GABRG2, GABRG3). The GABRB1 subunit is responsible for mediating chloride channel activity and regulating neuronal excitability. 2. **Ligand-gated ion channel**: GABRB1 forms a ligand-gated chloride channel, which is activated by the binding of GABA, a major inhibitory neurotransmitter in the brain. 3. **Anion channel activity**: GABRB1 exhibits anion channel activity, allowing chloride ions to flow into the neuron, which hyperpolarizes the neuron and reduces excitability. 4. **Regulation of presynaptic membrane potential**: GABRB1 plays a crucial role in regulating the presynaptic membrane potential, which is essential for synaptic transmission and neurotransmitter release. **Pathways and Functions** 1. **GABAergic signaling pathway**: GABRB1 is a key component of the GABAergic signaling pathway, which is involved in regulating neuronal excitability and synaptic transmission. 2. **Neuronal development**: GABRB1 is essential for neuronal development, particularly in the formation of inhibitory interneurons and the establishment of neural circuits. 3. **Synaptic plasticity**: GABRB1 regulates synaptic plasticity, including long-term potentiation (LTP) and long-term depression (LTD), which are critical for learning and memory. 4. **Neurotransmitter signaling**: GABRB1 interacts with other neurotransmitter receptors, such as glutamatergic receptors, to regulate synaptic transmission and neuronal excitability. **Clinical Significance** 1. **Neurological disorders**: Alterations in the GABRB1 gene have been implicated in various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. 2. **Cognitive function**: GABRB1 is involved in regulating cognitive function, particularly in attention and memory. 3. **Psychiatric disorders**: GABRB1 has been linked to psychiatric disorders, including depression and bipolar disorder. 4. **Neurodevelopmental disorders**: GABRB1 is essential for normal neuronal development and function, and alterations in the gene have been implicated in neurodevelopmental disorders, such as autism spectrum disorder. In conclusion, the GABRB1 gene plays a critical role in regulating neuronal excitability, synaptic transmission, and neurotransmitter signaling. Alterations in the gene have been implicated in various neurological and psychiatric disorders, highlighting its significance in human health and disease. Further research is needed to fully understand the mechanisms by which GABRB1 regulates neuronal function and to develop effective therapeutic strategies for treating disorders associated with GABRB1 dysfunction.

Genular Protein ID: 196012313

Symbol: GBRB1_HUMAN

Name: Gamma-aminobutyric acid receptor subunit beta-1

UniProtKB Accession Codes:

P18505 B2R6U7 D6REL3 Q16166 Q8TBK3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 ComplexPortal 6 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 79 DrugCentral 1 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 29 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2465923

Title: Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits.

PubMed ID: 2465923

DOI: 10.1016/0014-5793(89)80563-0

PubMed ID: 1655634

Title: Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1).

PubMed ID: 1655634

DOI: 10.1016/0888-7543(91)90189-l

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

DOI: 10.1038/ncomms4650

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2160058

Title: Differential expression of gamma-aminobutyric acidA receptor subunits.

PubMed ID: 2160058

PubMed ID: 8178835

Title: Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.

PubMed ID: 8178835

DOI: 10.1002/ajmg.1320540105

PubMed ID: 10449790

Title: Theta, a novel gamma-aminobutyric acid type A receptor subunit.

PubMed ID: 10449790

DOI: 10.1073/pnas.96.17.9891

PubMed ID: 16412217

Title: Impact of epsilon and theta subunits on pharmacological properties of alpha3beta1 GABAA receptors expressed in Xenopus oocytes.

PubMed ID: 16412217

DOI: 10.1186/1471-2210-6-1

PubMed ID: 23934111

Title: De novo mutations in epileptic encephalopathies.

PubMed ID: 23934111

DOI: 10.1038/nature12439

PubMed ID: 27273810

Title: A second patient with a de novo GABRB1 mutation and epileptic encephalopathy.

PubMed ID: 27273810

DOI: 10.1002/ana.24699

PubMed ID: 26950270

Title: Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.

PubMed ID: 26950270

DOI: 10.1002/ana.24631

Sequence Information:

  • Length: 474
  • Mass: 54235
  • Checksum: 05DA70F6FCD04E54
  • Sequence:
    • MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI RLRPDFGGPP 
VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS GIPLNLTLDN RVADQLWVPD 
TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 
SYGYTTDDIE FYWNGGEGAV TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK 
RNIGYFILQT YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI 
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE KNKLEMNKVQ 
VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA SIQYRKPLSS REAYGRALDR 
HGVPSKGRIR RRASQLKVKI PDLTDVNSID KWSRMFFPIT FSLFNVVYWL YYVH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.