Tclin Glycine receptor subunit alpha-1

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Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity).

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]

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Property Summary

Ligand Count	31
NCBI Gene PubMed Count	127
PubMed Score	119.03

PubTator Score	139.16

Knowledge Summary

Patent (1,805)

TINX Plot

Disease (7)

Disease	Target Count	Z-score	Confidence
Dystonic Disorders	7	0.0	0.0
Hyperexplexia hereditary	4	0.0	0.0

Disease	Target Count
Epilepsy	792
Actual Aspiration	8
Apnea	45
Autosomal recessive predisposition	1442
Dystonia Disorders	6
Exaggerated acoustic startle response	8
Exaggerated startle response	8
Frequent falls	12
Hereditary Hyperexplexia	4
Hernia, Inguinal	89
Hyperexplexia	8
Hypokinesia	19
Increased startle response	8
Infantile onset	238
Muscle Hypertonia	88
Myoclonus	74
Pulmonary aspiration	8
Seizures	596
Umbilical hernia	93

Disease	Target Count
General anesthesia	53

Disease	Target Count	Z-score	Confidence
Carcinoma	11493	0.0	0.8

Disease	Target Count	Z-score	Confidence
Hyperekplexia	16	8.394	4.0

Disease	Target Count	Z-score	Confidence
Periodic limb movement disorder	5	4.578	2.3
Schizotypal personality disorder	7	3.34	1.7
Aspiration Pneumonia	4	3.053	1.5

Disease	Target Count
Hyperekplexia, Hereditary 1	4

Brain - Substantia nigra 17,981

Brain - Hypothalamus 18,169

Brain - Cerebellar Hemisphere 18,015

Brain - Cerebellum 17,983

Brain - Spinal cord (cervical c-1) 17,973

Brain - Putamen (basal ganglia) 17,863

Pancreas 18,123

Brain - Caudate (basal ganglia) 18,001

Testis 18,518

Minor Salivary Gland 18,005

Esophagus - Muscularis 18,017

Brain - Frontal Cortex (BA9) 18,069

Brain - Nucleus accumbens (basal ganglia... 18,024

Spleen 17,614

Brain - Cortex 18,039

Brain - Amygdala 18,006

Brain - Anterior cingulate cortex (BA24) 17,989

Colon - Transverse 17,825

Nerve - Tibial 18,007

Whole Blood 17,439

Brain - Hippocampus 18,011

Thyroid 18,024

Artery - Aorta 17,896

Artery - Coronary 17,949

Adipose - Visceral (Omentum) 17,937

Muscle - Skeletal 17,778

Cells - EBV-transformed lymphocytes 18,186

Skin - Not Sun Exposed (Suprapubic) 18,081

Adrenal Gland 18,071

Small Intestine - Terminal Ileum 17,954

Stomach 17,879

Pituitary 18,147

Cells - Transformed fibroblasts 17,577

Lung 18,057

Artery - Tibial 17,631

Adipose - Subcutaneous 18,110

Skin - Sun Exposed (Lower leg) 17,968

Heart - Left Ventricle 18,006

Esophagus - Gastroesophageal Junction 18,000

Kidney - Cortex 17,329

Vagina 17,834

Ovary 17,971

Colon - Sigmoid 18,089

Uterus 17,618

Esophagus - Mucosa 18,076

Prostate 18,213

Breast - Mammary Tissue 18,103

Heart - Atrial Appendage 17,896

Liver 18,071

Adult Retina 10,115

Retina

adrenal gland 15,963

cerebral cortex 16,630

Endocrine System 18,159

Nervous System 16,725

See source...

lm8 3

lm4 4

Peritoneal exudate 17

SR cell 6

See source...

Synonym

Accession	P23415 B2R6T3 Q14C77 Q6DJV9
Symbols	STHE HKPX1

Gene

GLRA1

PANTHER Protein Class (4)

transporter 580

ion channel 186

ligand-gated ion channel 69

acetylcholine receptor 47

PDB

1MOT 1VRY 2M6B 2M6I 4X5T

Ortholog (1)

Species	Source	Disease
Chimp	OMA EggNOG

UniProt Keyword (25)

Complete proteome 20,231

Metal-binding 3,672

Reference proteome 20,231

Zinc 2,356

Alternative splicing 10,528

Cell projection 826

Disease mutation 2,804

Cell membrane 3,390

Disulfide bond 3,599

Glycoprotein 4,623

See all...

GO Function (6)

zinc ion binding 828

identical protein binding 1,084

glycine binding 15

extracellular-glycine-gated chloride cha... 5

taurine binding 1

transmitter-gated ion channel activity 2

GO Component (15)

plasma membrane 4,414

integral component of plasma membrane 1,418

integral component of membrane 3,665

endoplasmic reticulum 938

intracellular membrane-bounded organelle 593

dendrite 330

neuronal cell body 325

neuron projection 235

postsynaptic membrane 210

cell junction 502

See all...

GO Process (25)

chemical synaptic transmission 219

muscle contraction 101

neuropeptide signaling pathway 81

visual perception 198

protein homooligomerization 206

regulation of membrane potential 68

ion transport 99

action potential 17

chloride transmembrane transport 32

chloride transport 32

See all...

Compartment GO Term (42)

Cell 16,178

Cell body 251

Cell junction 960

Cell part 16,177

Cell periphery 5,381

Cell projection 1,541

Chloride channel complex 63

Dendrite 342

GABA receptor complex 37

GABA-A receptor complex 35

Integral component of membrane 5,330

Integral component of plasma membrane 1,693

Intracellular 14,108

Intracellular membrane-bounded organelle 10,341

Intracellular organelle 12,025

See all...

OMIM Phenotype (1)

Phenotype: Hyperekplexia, hereditary 1, ... 1

MGI Phenotype (13)

endocrine-exocrine gland phenotype 2,293

growth-size-body region phenotype 4,157

cellular phenotype 3,637

vision-eye phenotype 1,622

nervous system phenotype 3,447

hematopoietic system phenotype 3,383

reproductive system phenotype 1,999

mortality-aging 5,018

respiratory system phenotype 1,390

immune system phenotype 3,461

See all...

GWAS Trait (1)

Post bronchodilator FEV1-FVC ratio 308

HCA RNA Cell Line (17)

AF22 16,160

AN3-CA 15,648

BJ hTERT+ SV40 Large T+ 15,609

BJ hTERT+ SV40 Large T+ RasG12V 15,493

Daudi 15,753

EFO-21 17,301

HeLa 15,690

HMC-1 16,581

K-562 16,233

NB-4 16,547

See all...

Pathway (4)

Neuroactive ligand-receptor interaction 276

Neuronal System 367

Neurotransmitter receptors and postsynap... 149

Transmission across Chemical Synapses 221

Protein-protein Interaction (1)

GLRB

Drug (17)

astemizole
pEC50 5.38

telmisartan
pEC50 5.50

regorafenib
pEC50 5.75

pimozide
pEC50 5.77

dronabinol
pEC50 5.89

adapalene
pEC50 5.89

colecalciferol
pEC50 6.40

sulindac
pEC50 6.42

dutasteride
pEC50 6.48

risperidone
pEC50 6.50

cinacalcet
pEC50 6.50

Ligand (14)

CHEMBL221823
pIC50 5.00

CHEMBL388075
pIC50 5.05

CHEMBL2398352
pIC50 5.06

CHEMBL374004
pIC50 5.10

CHEMBL221715
pIC50 5.10

CHEMBL426556
pIC50 5.10

CHEMBL376289
pIC50 5.10

CHEMBL373969
pIC50 5.20

CHEMBL221821
pIC50 5.23

CHEMBL465161
pIC50 5.42

CHEMBL514432
pIC50 5.50

CHEMBL416956
pEC50 5.60

CHEMBL46516
pEC50 5.92

CHEMBL2113267
pIC50 6.10

Gene RIF (90)

AA Sequence

MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCN      1 - 70
IFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEIT     71 - 140
TDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGL    141 - 210
TLPQFILKEEKDLRYCTKHYNTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPAR    211 - 280
VGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRR    281 - 350
HHKSPMLNLFQEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA    351 - 420
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ                                     421 - 457
//

Text Mined References (132)

Summary
Details

	PMID	Year	Title

Tclin Glycine receptor subunit alpha-1 Add to cart View Collections Empty Collection

Property Summary

Knowledge Summary

Patent (1,805)

TINX Plot

Disease (7)

Expression

Synonym

Gene

PANTHER Protein Class (4)

PDB

Ortholog (1)

UniProt Keyword (25)

GO Function (6)

GO Component (15)

GO Process (25)

Compartment GO Term (42)

OMIM Phenotype (1)

MGI Phenotype (13)

GWAS Trait (1)

HCA RNA Cell Line (17)

Pathway (4)

Protein-protein Interaction (1)

Drug (17)

Ligand (14)

Gene RIF (90)

AA Sequence

Text Mined References (132)

Tclin Glycine receptor subunit alpha-1

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