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GABRA1

GENERAL INFORMATION

Gene name

 GABRA1

Gene description

 Gamma-aminobutyric acid (GABA) A receptor, alpha 1

Protein class

 Disease related genes
FDA approved drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Transporters

Predicted localization

 Intracellular,Membrane,Secreted

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus, hypothalamus)
FANTOM5:Group enriched (brain, cerebellum, hippocampus)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in neuropil and subset of neurons.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA055746 , CAB022502
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebellum, cerebral cortex, hippocampus, hypothalamus)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (brain, cerebellum, hippocampus)

GENE INFORMATION

Gene name

 GABRA1 (HGNC Symbol)

Synonyms

 EJM5

Description

 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 5

Cytoband

 q34

Chromosome location (bp)

 161847191 - 161899981

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000022355 (version 83.38)

Entrez gene

 2554

UniProt

 P14867 (UniProt - Evidence at protein level)

neXtProt

 NX_P14867

Antibodypedia

 GABRA1 antibodies

PROTEIN BROWSER
GABRA1-001
GABRA1-002
GABRA1-004
GABRA1-005
GABRA1-006
GABRA1-007
GABRA1-008
GABRA1-010
GABRA1-012

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GABRA1-001
ENSP00000393097
ENST00000428797
P14867 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005237 [inhibitory extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007214 [gamma-aminobutyric acid signaling pathway]
GO:0007268 [synaptic transmission]
GO:0008144 [drug binding]
GO:0008503 [benzodiazepine receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016917 [GABA receptor activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0042493 [response to drug]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0051932 [synaptic transmission, GABAergic]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1902710 [GABA receptor complex]
GO:1902711 [GABA-A receptor complex]
Show all
 456 aa
51.8 kDa 		Yes 4
GABRA1-002
ENSP00000023897
ENST00000023897
P14867 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005237 [inhibitory extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007214 [gamma-aminobutyric acid signaling pathway]
GO:0007268 [synaptic transmission]
GO:0008144 [drug binding]
GO:0008503 [benzodiazepine receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016917 [GABA receptor activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0042493 [response to drug]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0051932 [synaptic transmission, GABAergic]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1902710 [GABA receptor complex]
GO:1902711 [GABA-A receptor complex]
Show all
 456 aa
51.8 kDa 		Yes 4
GABRA1-004
ENSP00000415441
ENST00000437025
P14867 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005237 [inhibitory extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007214 [gamma-aminobutyric acid signaling pathway]
GO:0007268 [synaptic transmission]
GO:0008144 [drug binding]
GO:0008503 [benzodiazepine receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016917 [GABA receptor activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0042493 [response to drug]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0051932 [synaptic transmission, GABAergic]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1902710 [GABA receptor complex]
GO:1902711 [GABA-A receptor complex]
Show all
 456 aa
51.8 kDa 		Yes 4
GABRA1-005
ENSP00000377517
ENST00000393943
P14867 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005237 [inhibitory extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007214 [gamma-aminobutyric acid signaling pathway]
GO:0007268 [synaptic transmission]
GO:0008144 [drug binding]
GO:0008503 [benzodiazepine receptor activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016917 [GABA receptor activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0042493 [response to drug]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0051932 [synaptic transmission, GABAergic]
GO:0055085 [transmembrane transport]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902710 [GABA receptor complex]
GO:1902711 [GABA-A receptor complex]
Show all
 456 aa
51.8 kDa 		Yes 4
GABRA1-006
ENSP00000430895
ENST00000521339
E5RHL6 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
   MEMSAT-SVM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0007165 [signal transduction]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
Show all
 91 aa
10.3 kDa 		Yes 0
GABRA1-007
ENSP00000430507
ENST00000522651
E5RJS3 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0006810 [transport]
GO:0007165 [signal transduction]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
Show all
 113 aa
12.7 kDa 		No 0
GABRA1-008
ENSP00000489434
ENST00000634335
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Show all
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0016020 [membrane]
Show all
 285 aa
32.8 kDa 		Yes 1
GABRA1-010
ENSP00000430435
ENST00000519621
E5RK60 [Direct mapping]
Gamma-aminobutyric acid receptor subunit alpha-1
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0006810 [transport]
GO:0007165 [signal transduction]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
Show all
 168 aa
19.4 kDa 		Yes 0
GABRA1-012
ENSP00000489033
ENST00000635096
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
 35 aa
3.9 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.