Details for: GABRA1

Gene ID: 2554

Symbol: GABRA1

Ensembl ID: ENSG00000022355

Description: gamma-aminobutyric acid type A receptor subunit alpha1

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: cone retinal bipolar cell (CL0000752)
    Fold Change: 5.4042
    Cell Significance Index: 41.6600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.9157
    Cell Significance Index: 85.7400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.1509
    Cell Significance Index: 1130.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1115
    Cell Significance Index: 423.5700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.2580
    Cell Significance Index: 35.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.1041
    Cell Significance Index: 74.2400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.9150
    Cell Significance Index: 8.0600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.9006
    Cell Significance Index: 11.6800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5892
    Cell Significance Index: 407.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5533
    Cell Significance Index: 29.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4003
    Cell Significance Index: 6.8600
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.3316
    Cell Significance Index: 4.0200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1809
    Cell Significance Index: 8.0000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1782
    Cell Significance Index: 10.9500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0883
    Cell Significance Index: 0.8400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0463
    Cell Significance Index: 1.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0201
    Cell Significance Index: -37.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0240
    Cell Significance Index: -44.2500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0250
    Cell Significance Index: -0.5300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0286
    Cell Significance Index: -44.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0332
    Cell Significance Index: -45.1100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0574
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0611
    Cell Significance Index: -45.2500
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0615
    Cell Significance Index: -0.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0617
    Cell Significance Index: -39.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0676
    Cell Significance Index: -2.5600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0741
    Cell Significance Index: -2.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0790
    Cell Significance Index: -2.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0804
    Cell Significance Index: -45.3600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0836
    Cell Significance Index: -1.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0889
    Cell Significance Index: -40.3300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1061
    Cell Significance Index: -2.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1110
    Cell Significance Index: -31.9300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1120
    Cell Significance Index: -2.4200
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1206
    Cell Significance Index: -1.6900
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1582
    Cell Significance Index: -1.5000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1758
    Cell Significance Index: -2.6300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1932
    Cell Significance Index: -2.5300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2119
    Cell Significance Index: -6.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2147
    Cell Significance Index: -38.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2152
    Cell Significance Index: -45.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2196
    Cell Significance Index: -43.5900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2506
    Cell Significance Index: -2.7300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2628
    Cell Significance Index: -44.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2637
    Cell Significance Index: -38.3300
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.2715
    Cell Significance Index: -2.1600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2783
    Cell Significance Index: -9.1100
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.2806
    Cell Significance Index: -3.1700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2878
    Cell Significance Index: -1.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3169
    Cell Significance Index: -38.9700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3648
    Cell Significance Index: -9.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3715
    Cell Significance Index: -42.5700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3899
    Cell Significance Index: -40.6000
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.4051
    Cell Significance Index: -4.4700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4360
    Cell Significance Index: -10.5600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4586
    Cell Significance Index: -5.2100
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4588
    Cell Significance Index: -5.7900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4873
    Cell Significance Index: -10.1700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5163
    Cell Significance Index: -12.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5299
    Cell Significance Index: -40.6600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5532
    Cell Significance Index: -19.3800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5947
    Cell Significance Index: -11.7600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.6635
    Cell Significance Index: -7.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7002
    Cell Significance Index: -39.2900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.7629
    Cell Significance Index: -1.7200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7754
    Cell Significance Index: -40.3900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7865
    Cell Significance Index: -15.4800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7974
    Cell Significance Index: -11.4200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.8176
    Cell Significance Index: -11.6200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.8596
    Cell Significance Index: -40.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.8719
    Cell Significance Index: -39.5200
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.8969
    Cell Significance Index: -6.2200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.9327
    Cell Significance Index: -18.6000
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.9460
    Cell Significance Index: -12.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9589
    Cell Significance Index: -44.7100
  • Cell Name: interneuron (CL0000099)
    Fold Change: -0.9957
    Cell Significance Index: -11.6300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -1.0032
    Cell Significance Index: -8.1000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.0519
    Cell Significance Index: -22.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.2380
    Cell Significance Index: -43.5000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.3774
    Cell Significance Index: -40.5700
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -1.3990
    Cell Significance Index: -1.8100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.4354
    Cell Significance Index: -45.4000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.4714
    Cell Significance Index: -29.9400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.4935
    Cell Significance Index: -43.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.5617
    Cell Significance Index: -41.7000
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -1.5788
    Cell Significance Index: -18.1000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -1.5834
    Cell Significance Index: -13.0700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.5859
    Cell Significance Index: -27.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.5897
    Cell Significance Index: -41.8000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.6027
    Cell Significance Index: -40.0300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.6512
    Cell Significance Index: -42.0700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.6951
    Cell Significance Index: -45.4200
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -1.6959
    Cell Significance Index: -21.0800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -1.7070
    Cell Significance Index: -18.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.7402
    Cell Significance Index: -43.5000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.7719
    Cell Significance Index: -72.6000
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -1.8359
    Cell Significance Index: -22.6600
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: -1.8750
    Cell Significance Index: -1.3400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.9046
    Cell Significance Index: -46.4700
  • Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
    Fold Change: -1.9417
    Cell Significance Index: -20.9600

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. **Structure**: The GABRA1 gene encodes for a single polypeptide chain, which is a subunit of the GABA_A receptor. 2. **Function**: The GABRA1 subunit is a chloride channel that is activated by the neurotransmitter GABA, leading to hyperpolarization of the postsynaptic neuron. 3. **Expression**: GABRA1 is expressed in various cell types, including progenitor cells, blood vessel endothelial cells, and GABAergic cortical interneurons. 4. **Location**: The gene is located on chromosome 4q34.2 and is highly conserved across species. **Pathways and Functions** 1. **GABA_A Receptor Signaling**: The GABRA1 subunit is a key component of the GABA_A receptor complex, which is a ligand-gated chloride channel that regulates synaptic transmission. 2. **Neuronal Excitability**: GABRA1 modulates neuronal excitability by regulating the influx of chloride ions into the neuron, leading to hyperpolarization and decreased excitability. 3. **Synaptic Transmission**: GABRA1 plays a critical role in regulating synaptic transmission by modulating the activity of GABAergic interneurons and inhibiting the activity of excitatory neurons. 4. **Neurotransmitter Signaling**: GABRA1 is involved in the regulation of neurotransmitter signaling by modulating the activity of GABAergic receptors and inhibiting the activity of excitatory neurotransmitters. **Clinical Significance** 1. **Anxiety Disorders**: Variants of the GABRA1 gene have been associated with anxiety disorders, suggesting its role in regulating anxiety-related behaviors. 2. **Seizure Disorders**: The GABRA1 gene has been implicated in seizure disorders, such as epilepsy, due to its role in regulating neuronal excitability and synaptic transmission. 3. **Neurodevelopmental Disorders**: GABRA1 has been associated with neurodevelopmental disorders, such as autism spectrum disorder, suggesting its role in regulating neuronal development and function. 4. **Cancer**: Some studies have suggested that GABRA1 may play a role in cancer, particularly in regulating cell proliferation and apoptosis. In conclusion, the GABRA1 gene plays a critical role in regulating neuronal excitability and synaptic transmission, and its dysregulation has been implicated in various neurological and psychiatric disorders. Further research is needed to fully understand the mechanisms by which GABRA1 regulates neuronal function and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 980490060

Symbol: GBRA1_HUMAN

Name: Gamma-aminobutyric acid receptor subunit alpha-1

UniProtKB Accession Codes:

Database IDs:

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: 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: 2847710

Title: Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor.

PubMed ID: 2847710

DOI: 10.1016/s0006-291x(88)80949-5

PubMed ID: 23909897

Title: GABA(A) receptors can initiate the formation of functional inhibitory GABAergic synapses.

PubMed ID: 23909897

DOI: 10.1111/ejn.12331

PubMed ID: 25489750

Title: Inhibitory synapse formation in a co-culture model incorporating GABAergic medium spiny neurons and HEK293 cells stably expressing GABAA receptors.

PubMed ID: 25489750

DOI: 10.3791/52115

PubMed ID: 28978485

Title: An essential role for the tetraspanin LHFPL4 in the cell-type-specific targeting and clustering of synaptic GABAA ceceptors.

PubMed ID: 28978485

DOI: 10.1016/j.celrep.2017.09.025

PubMed ID: 29742426

Title: Impairment of inhibitory synapse formation and motor behavior in mice lacking the NL2 binding partner LHFPL4/GARLH4.

PubMed ID: 29742426

DOI: 10.1016/j.celrep.2018.04.015

PubMed ID: 29950725

Title: Structure of a human synaptic GABAA receptor.

PubMed ID: 29950725

DOI: 10.1038/s41586-018-0255-3

PubMed ID: 30266951

Title: Structural basis of neurosteroid anesthetic action on GABAA receptors.

PubMed ID: 30266951

DOI: 10.1038/s41467-018-06361-4

PubMed ID: 30602789

Title: Cryo-EM structure of the human alpha1beta3gamma2 GABAA receptor in a lipid bilayer.

PubMed ID: 30602789

DOI: 10.1038/s41586-018-0833-4

PubMed ID: 21714819

Title: Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PubMed ID: 21714819

DOI: 10.1111/j.1460-9568.2011.07767.x

PubMed ID: 24623842

Title: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PubMed ID: 24623842

DOI: 10.1212/wnl.0000000000000291

PubMed ID: 11992121

Title: Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PubMed ID: 11992121

DOI: 10.1038/ng885

PubMed ID: 16718694

Title: A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PubMed ID: 16718694

DOI: 10.1002/ana.20874

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 456
  • Mass: 51802
  • Checksum: F81EC9ECBE64E94D
  • Sequence:
  • MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL DGYDNRLRPG 
    LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE RLKFKGPMTV LRLNNLMASK 
    IWTPDTFFHN GKKSVAHNMT MPNKLLRITE DGTLLYTMRL TVRAECPMHL EDFPMDAHAC 
    PLKFGSYAYT RAEVVYEWTR EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM 
    TTHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
    RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV PEKPKKVKDP 
    LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV KPETKPPEPK KTFNSVSKID 
    RLSRIAFPLL FGIFNLVYWA TYLNREPQLK APTPHQ

Genular Protein ID: 1946262099

Symbol: A8K177_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 456
  • Mass: 51803
  • Checksum: 18C5A45A65043F45
  • Sequence:
  • MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL DGYDNRLRPG 
    LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE RLKFKGPMTV LRLNNLMASK 
    IWTPDTFFHN GKKSVAHNMT MPNKLLRITE DGTLLYTMRL TVRAECPMHL EDFPMDAHAC 
    PLKFGSYAYT RAEVVYEWTR EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM 
    TTHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
    RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV PEEPKKVKDP 
    LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV KPETKPPEPK KTFNSVSKID 
    RLSRIAFPLL FGIFNLVYWA TYLNREPQLK APTPHQ

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.