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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 5.11
    Marker Score: 68006.5
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 4.45
    Marker Score: 2929
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.19
    Marker Score: 68039
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.83
    Marker Score: 21722
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.82
    Marker Score: 42119
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.77
    Marker Score: 55008
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.71
    Marker Score: 5954
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.7
    Marker Score: 102709
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.65
    Marker Score: 7571
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.62
    Marker Score: 10685
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.54
    Marker Score: 2203
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.48
    Marker Score: 4167
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.42
    Marker Score: 89411
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.39
    Marker Score: 11076
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.33
    Marker Score: 8996
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.21
    Marker Score: 1286
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.19
    Marker Score: 20616
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127176
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.03
    Marker Score: 21011
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.92
    Marker Score: 18249
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.88
    Marker Score: 2600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.85
    Marker Score: 15930
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.85
    Marker Score: 3504
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.81
    Marker Score: 6079
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2550
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1170
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.58
    Marker Score: 35404
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.58
    Marker Score: 1956
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.47
    Marker Score: 565
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167053
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.45
    Marker Score: 2947
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.37
    Marker Score: 5681
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.35
    Marker Score: 3114
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.34
    Marker Score: 599
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18794
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.12
    Marker Score: 354
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 503
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.09
    Marker Score: 4552
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.09
    Marker Score: 654
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.08
    Marker Score: 8135
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.01
    Marker Score: 419
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1
    Marker Score: 481
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71806
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48032.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.95
    Marker Score: 32089
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.94
    Marker Score: 1080.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.94
    Marker Score: 3331
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.92
    Marker Score: 2157
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.87
    Marker Score: 3665
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.81
    Marker Score: 330
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.79
    Marker Score: 4260
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.77
    Marker Score: 462
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 696
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.75
    Marker Score: 242
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.69
    Marker Score: 1260.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.69
    Marker Score: 215
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.64
    Marker Score: 6495
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.62
    Marker Score: 296
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.6
    Marker Score: 3989
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 465
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.57
    Marker Score: 148
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.56
    Marker Score: 277
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.55
    Marker Score: 243
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.51
    Marker Score: 168
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.5
    Marker Score: 1948
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.45
    Marker Score: 155
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.45
    Marker Score: 250
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.43
    Marker Score: 396
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.43
    Marker Score: 1224
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.42
    Marker Score: 420
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.41
    Marker Score: 573
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.4
    Marker Score: 146
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.38
    Marker Score: 107
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.36
    Marker Score: 850
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.34
    Marker Score: 550
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.33
    Marker Score: 134
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.33
    Marker Score: 104
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.3
    Marker Score: 196
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.28
    Marker Score: 264.5
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.28
    Marker Score: 128
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.28
    Marker Score: 96
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.27
    Marker Score: 144
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.27
    Marker Score: 78
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.26
    Marker Score: 281
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.25
    Marker Score: 172
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.25
    Marker Score: 273
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.25
    Marker Score: 427

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Other Information

**Key characteristics:** * GBRB1 is a single-pass transmembrane protein with a molecular weight of approximately 140 kDa. * It is expressed in a wide range of cell types, including cardiac muscle cells, mature astrocytes, astrocytes in the cerebral cortex, and GABAergic interneurons. * The protein is a ligand-gated ion channel, meaning it opens or closes in response to the binding of a neurotransmitter. **Pathways and functions:** * GBRB1 is a key component of the GABA receptor signaling pathway, which is involved in regulating synaptic transmission, neuronal excitability, and neuronal development. * It is a ligand-gated chloride channel, meaning it opens when a neurotransmitter binds. * Activation of GBRB1 by GABA induces the opening of chloride channels, which leads to a decrease in the membrane potential of the neuron. * This hyperpolarization facilitates the release of neurotransmitters from presynaptic terminals, promoting synaptic transmission. **Clinical significance:** * Mutations in the GABRB1 gene have been linked to several neurological disorders, including autism, schizophrenia, and epilepsy. * These mutations can disrupt the function of GBRB1, leading to the development of these psychiatric conditions. * Understanding the role of GABRB1 in neuronal function and disease has significant implications for the development of novel therapeutic strategies for these disorders. **Additional information:** * GBRB1 is a member of the GABA receptor family of ion channels. * It is expressed in the central nervous system, particularly in the cerebral cortex and hippocampus. * The expression of GABRB1 is upregulated in conditions such as autism and schizophrenia.

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 3 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 77 DrugCentral 1 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 28 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 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: 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. For the full schema, download it here.