Expression of GABRA1 in cancer - Summary - The Human Protein Atlas

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GABRA1

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TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

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 category

TCGA (cancer tissue):	Tissue enriched (glioma)
HPA (cell line):	Cell line enhanced (HEL)
HPA (normal tissue):	Tissue enriched (cerebral cortex)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Selective expression in neuropil and subset of neurons.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA055746 , CAB022502
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Tissue enriched (glioma)

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA055746	CAB022502

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

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