Details for: GLRA1

Gene ID: 2741

Symbol: GLRA1

Ensembl ID: ENSG00000145888

Description: glycine receptor alpha 1

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.2503
    Cell Significance Index: -5.3900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 3.5200
    Cell Significance Index: 111.3300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4207
    Cell Significance Index: 6.2100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.3152
    Cell Significance Index: 7.6900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.1977
    Cell Significance Index: 3.1900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1873
    Cell Significance Index: 4.6700
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.1716
    Cell Significance Index: 2.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1653
    Cell Significance Index: 5.3000
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.1543
    Cell Significance Index: 2.1400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1425
    Cell Significance Index: 2.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1017
    Cell Significance Index: 20.1800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0970
    Cell Significance Index: 1.2100
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0878
    Cell Significance Index: 1.1500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0755
    Cell Significance Index: 4.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0751
    Cell Significance Index: 15.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0681
    Cell Significance Index: 1.7500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0669
    Cell Significance Index: 0.9500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0663
    Cell Significance Index: 45.8600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0532
    Cell Significance Index: 0.6600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0517
    Cell Significance Index: 9.8400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0364
    Cell Significance Index: 13.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0350
    Cell Significance Index: 5.6900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0334
    Cell Significance Index: 0.5000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0291
    Cell Significance Index: 0.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0267
    Cell Significance Index: 2.0500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0153
    Cell Significance Index: 1.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0128
    Cell Significance Index: 17.3600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0122
    Cell Significance Index: 1.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0066
    Cell Significance Index: 12.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0029
    Cell Significance Index: 0.0800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0021
    Cell Significance Index: 3.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0018
    Cell Significance Index: 3.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0039
    Cell Significance Index: -3.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0054
    Cell Significance Index: -0.9800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0062
    Cell Significance Index: -3.9400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0066
    Cell Significance Index: -3.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0094
    Cell Significance Index: -6.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0123
    Cell Significance Index: -6.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0131
    Cell Significance Index: -5.9700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0134
    Cell Significance Index: -8.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0168
    Cell Significance Index: -4.8200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0210
    Cell Significance Index: -0.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0276
    Cell Significance Index: -1.5500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0285
    Cell Significance Index: -0.3600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0307
    Cell Significance Index: -0.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0311
    Cell Significance Index: -3.8300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0311
    Cell Significance Index: -1.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0316
    Cell Significance Index: -1.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0318
    Cell Significance Index: -5.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0340
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0346
    Cell Significance Index: -7.2900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0382
    Cell Significance Index: -4.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0492
    Cell Significance Index: -6.7500
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: -0.0531
    Cell Significance Index: -0.6500
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0539
    Cell Significance Index: -0.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0591
    Cell Significance Index: -3.6300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0600
    Cell Significance Index: -1.5000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0603
    Cell Significance Index: -4.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0639
    Cell Significance Index: -2.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0647
    Cell Significance Index: -7.4100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0671
    Cell Significance Index: -1.3100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0679
    Cell Significance Index: -0.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0709
    Cell Significance Index: -7.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0721
    Cell Significance Index: -7.3600
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: -0.0776
    Cell Significance Index: -0.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0996
    Cell Significance Index: -6.7000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1017
    Cell Significance Index: -5.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1021
    Cell Significance Index: -2.7800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1024
    Cell Significance Index: -2.9500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1094
    Cell Significance Index: -2.2900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1176
    Cell Significance Index: -2.3600
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1182
    Cell Significance Index: -1.1200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1287
    Cell Significance Index: -1.9000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1288
    Cell Significance Index: -2.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1316
    Cell Significance Index: -5.8200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1329
    Cell Significance Index: -6.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1345
    Cell Significance Index: -5.8500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1400
    Cell Significance Index: -4.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1440
    Cell Significance Index: -7.5000
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1445
    Cell Significance Index: -1.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1503
    Cell Significance Index: -5.6900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1504
    Cell Significance Index: -4.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1533
    Cell Significance Index: -5.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1536
    Cell Significance Index: -5.3800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.1556
    Cell Significance Index: -2.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1647
    Cell Significance Index: -8.3300
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1661
    Cell Significance Index: -1.5900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1798
    Cell Significance Index: -2.7100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1816
    Cell Significance Index: -4.4000
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1884
    Cell Significance Index: -1.6300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1895
    Cell Significance Index: -5.0700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1913
    Cell Significance Index: -4.0800
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.2006
    Cell Significance Index: -2.0800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2017
    Cell Significance Index: -4.2800
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.2043
    Cell Significance Index: -2.0000
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.2046
    Cell Significance Index: -2.9100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2089
    Cell Significance Index: -5.0100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.2146
    Cell Significance Index: -2.3700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2189
    Cell Significance Index: -5.4600
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2245
    Cell Significance Index: -2.4500

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 GLRA1 gene encodes for a 430-amino acid protein, which is a subunit of the glycine receptor. The receptor is a ligand-gated chloride channel that consists of two alpha subunits and two beta subunits. 2. **Expression:** The GLRA1 gene is widely expressed in various tissues, including the nervous system, muscles, and epithelial cells. It is highly expressed in the brain, particularly in areas involved in motor control and cognition. 3. **Function:** The GLRA1 gene plays a critical role in regulating neuronal excitability and synaptic transmission. It is involved in the modulation of inhibitory postsynaptic potentials (IPSPs) and glycine-gated chloride channels, which are essential for maintaining proper neuronal function. 4. **Regulation:** The GLRA1 gene is regulated by various transcription factors, including the glycine receptor itself. It is also subject to post-translational modifications, such as phosphorylation and ubiquitination. **Pathways and Functions:** 1. **Acrosome Reaction:** The GLRA1 gene is involved in the regulation of the acrosome reaction, a critical process in sperm function and fertilization. 2. **Glycine Binding:** The GLRA1 gene plays a critical role in glycine binding, which is essential for the activation of the glycine receptor. 3. **Chloride Channel Activity:** The GLRA1 gene is involved in chloride channel activity, which is critical for regulating neuronal excitability and synaptic transmission. 4. **Neurotransmitter Receptor Activity:** The GLRA1 gene is involved in neurotransmitter receptor activity, particularly in the context of glycine and taurine receptors. 5. **Muscle Contraction:** The GLRA1 gene plays a critical role in muscle contraction, particularly in the context of skeletal muscle function. **Clinical Significance:** 1. **Neurological Disorders:** The GLRA1 gene has been implicated in various neurological disorders, including epilepsy, schizophrenia, and autism spectrum disorder. 2. **Muscular Disorders:** The GLRA1 gene has also been implicated in various muscular disorders, including muscular dystrophy and myasthenia gravis. 3. **Cancer:** The GLRA1 gene has been implicated in cancer, particularly in the context of glioblastoma and other brain tumors. 4. **Neurodevelopmental Disorders:** The GLRA1 gene has been implicated in neurodevelopmental disorders, including attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). 5. **Toxicity:** The GLRA1 gene has been implicated in toxicity, particularly in the context of ethanol and other toxins. In conclusion, the GLRA1 gene plays a critical role in regulating neuronal excitability and synaptic transmission, particularly in the context of glycine-gated chloride channels. Its dysregulation has been implicated in various neurological and muscular disorders, highlighting its importance in human health and disease. Further research is needed to fully understand the mechanisms underlying GLRA1 function and its implications in human disease.

Genular Protein ID: 1381578589

Symbol: GLRA1_HUMAN

Name: Glycine receptor subunit alpha-1

UniProtKB Accession Codes:

P23415 B2R6T3 Q14C77 Q6DJV9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 26 DrugCentral 1 EMBL 5 EMDB 4 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 1 PRINTS 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2155780

Title: Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

PubMed ID: 2155780

DOI: 10.1002/j.1460-2075.1990.tb08172.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 7920629

Title: A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

PubMed ID: 7920629

DOI: 10.1038/ng0694-131

PubMed ID: 14551753

Title: Kinetic analysis of recombinant mammalian alpha(1) and alpha(1)beta glycine receptor channels.

PubMed ID: 14551753

DOI: 10.1007/s00249-003-0286-y

PubMed ID: 16144831

Title: Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.

PubMed ID: 16144831

DOI: 10.1074/jbc.m508303200

PubMed ID: 19861413

Title: Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor.

PubMed ID: 19861413

DOI: 10.1074/jbc.m109.043448

PubMed ID: 22715885

Title: Stoichiometry and subunit arrangement of alpha1beta glycine receptors as determined by atomic force microscopy.

PubMed ID: 22715885

DOI: 10.1021/bi300063m

PubMed ID: 22973015

Title: Stoichiometry of the human glycine receptor revealed by direct subunit counting.

PubMed ID: 22973015

DOI: 10.1523/jneurosci.2050-12.2012

PubMed ID: 25973519

Title: Ethanol modulation is quantitatively determined by the transmembrane domain of human alpha1 glycine receptors.

PubMed ID: 25973519

DOI: 10.1111/acer.12735

PubMed ID: 25445488

Title: Functional reconstitution of glycinergic synapses incorporating defined glycine receptor subunit combinations.

PubMed ID: 25445488

DOI: 10.1016/j.neuropharm.2014.10.026

PubMed ID: 35526563

Title: Clinical, genetic, and functional characterization of the glycine receptor beta-subunit A455P variant in a family affected by hyperekplexia syndrome.

PubMed ID: 35526563

DOI: 10.1016/j.jbc.2022.102018

PubMed ID: 12667090

Title: NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit.

PubMed ID: 12667090

DOI: 10.1021/bi026767g

PubMed ID: 15952785

Title: Structure and dynamics of the second and third transmembrane domains of human glycine receptor.

PubMed ID: 15952785

DOI: 10.1021/bi050256n

PubMed ID: 23994010

Title: Open-channel structures of the human glycine receptor alpha1 full-length transmembrane domain.

PubMed ID: 23994010

DOI: 10.1016/j.str.2013.07.014

PubMed ID: 25730860

Title: Allosteric and hyperekplexic mutant phenotypes investigated on an alpha1 glycine receptor transmembrane structure.

PubMed ID: 25730860

DOI: 10.1073/pnas.1417864112

PubMed ID: 8298642

Title: Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

PubMed ID: 8298642

DOI: 10.1038/ng1293-351

PubMed ID: 7925268

Title: Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.

PubMed ID: 7925268

DOI: 10.1002/j.1460-2075.1994.tb06742.x

PubMed ID: 7981700

Title: An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.

PubMed ID: 7981700

DOI: 10.1093/hmg/3.7.1201

PubMed ID: 7881416

Title: Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.

PubMed ID: 7881416

DOI: 10.1093/hmg/3.12.2175

PubMed ID: 7611730

Title: Mutational analysis of familial and sporadic hyperekplexia.

PubMed ID: 7611730

DOI: 10.1002/ana.410380115

PubMed ID: 8571969

Title: A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

PubMed ID: 8571969

PubMed ID: 8733061

Title: Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

PubMed ID: 8733061

DOI: 10.1136/jmg.33.5.435

PubMed ID: 9009272

Title: Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.

PubMed ID: 9009272

DOI: 10.1093/emboj/16.1.110

PubMed ID: 9067762

Title: Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor.

PubMed ID: 9067762

DOI: 10.1002/(sici)1098-1004(1997)9:2<185::aid-humu14>3.0.co;2-z

PubMed ID: 10514101

Title: Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

PubMed ID: 10514101

DOI: 10.1002/1531-8249(199910)46:4<634::aid-ana12>3.0.co;2-9

PubMed ID: 9920650

Title: Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

PubMed ID: 9920650

DOI: 10.1523/jneurosci.19-03-00869.1999

PubMed ID: 24108130

Title: New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

PubMed ID: 24108130

DOI: 10.1074/jbc.m113.509240

Sequence Information:

  • Length: 457
  • Mass: 52624
  • Checksum: 5ED80AF62B06A3AA
  • Sequence:
    • MYSFNTLRLY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS GYDARIRPNF 
KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR LAYNEYPDDS LDLDPSMLDS 
IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC 
IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA 
RFHLERQMGY YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA 
SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR HHKSPMLNLF 
QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN PPPAPSKSPE EMRKLFIQRA 
KKIDKISRIG FPMAFLIFNM FYWIIYKIVR REDVHNQ

Genular Protein ID: 3167826959

Symbol: Q14C71_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14C71

Database IDs:

ARBA 16 AlphaFoldDB 1 BindingDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 2 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 11 Gene3D 2 InterPro 9 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PIRSR 3 PRINTS 3 PROSITE 1 PeptideAtlas 1 Pfam 4 ProteomicsDB 1 RefSeq 1 Rhea 1 RuleBase 1 SAM 1 SMR 1 SUPFAM 2

Citations:

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

Sequence Information:

  • Length: 366
  • Mass: 42466
  • Checksum: 65C10AFD651B019E
  • Sequence:
    • MDYRVNIFLR QQWNDPRLAY NEYPDDSLDL DPSMLDSIWK PDLFFANEKG AHFHEITTDN 
KLLRISRNGN VLYSIRITLT LACPMDLKNF PMDVQTCIMQ LESFGYTMND LIFEWQEQGA 
VQVADGLTLP QFILKEEKDL RYCTKHYNTG KFTCIEARFH LERQMGYYLI QMYIPSLLIV 
ILSWISFWIN MDAAPARVGL GITTVLTMTT QSSGSRASLP KVSYVKAIDI WMAVCLLFVF 
SALLEYAAVN FVSRQHKELL RFRRKRRHHK EDEAGEGRFN FSAYGMGPAC LQAKDGISVK 
GANNSNTTNP PPAPSKSPEE MRKLFIQRAK KIDKISRIGF PMAFLIFNMF YWIIYKIVRR 
EDVHNQ

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.