Details for: GLRA1

Gene ID: 2741

Symbol: GLRA1

Ensembl ID: ENSG00000145888

Description: glycine receptor alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.52
    Marker Score: 7219
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.99
    Marker Score: 1980
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1160
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.58
    Marker Score: 3947
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 170128
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 849
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.25
    Marker Score: 2591
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.2
    Marker Score: 2267
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.17
    Marker Score: 371
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.17
    Marker Score: 12078
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4792
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.13
    Marker Score: 3214
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.11
    Marker Score: 7367
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16317
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71798
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48022
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.93
    Marker Score: 426
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.92
    Marker Score: 387
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.84
    Marker Score: 1701
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.79
    Marker Score: 10526
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.74
    Marker Score: 202
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.67
    Marker Score: 400
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.59
    Marker Score: 178
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.59
    Marker Score: 309
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.56
    Marker Score: 2280
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.55
    Marker Score: 247
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.47
    Marker Score: 319
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.46
    Marker Score: 241
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.46
    Marker Score: 258
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.45
    Marker Score: 217
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.45
    Marker Score: 427
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.44
    Marker Score: 178
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.43
    Marker Score: 16245
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.43
    Marker Score: 135
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.4
    Marker Score: 3385
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.4
    Marker Score: 190
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.39
    Marker Score: 179
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.37
    Marker Score: 367
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.37
    Marker Score: 3167
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.36
    Marker Score: 1278
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.35
    Marker Score: 307.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.34
    Marker Score: 119
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.34
    Marker Score: 2016
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.34
    Marker Score: 790
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.32
    Marker Score: 190
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.32
    Marker Score: 1345
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.32
    Marker Score: 286
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.31
    Marker Score: 349
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.31
    Marker Score: 184
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.3
    Marker Score: 174
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.3
    Marker Score: 144
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.29
    Marker Score: 276.5
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.29
    Marker Score: 358
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.28
    Marker Score: 448
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.27
    Marker Score: 71
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.27
    Marker Score: 119
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.27
    Marker Score: 83
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.26
    Marker Score: 95
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.26
    Marker Score: 76
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.26
    Marker Score: 52
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.24
    Marker Score: 53
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.23
    Marker Score: 137
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.23
    Marker Score: 5233
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.23
    Marker Score: 361
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.23
    Marker Score: 95
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 76
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.22
    Marker Score: 49
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.22
    Marker Score: 72
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.22
    Marker Score: 275
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.22
    Marker Score: 351
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.21
    Marker Score: 208
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.2
    Marker Score: 50
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.19
    Marker Score: 50
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.19
    Marker Score: 51
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.19
    Marker Score: 69
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.19
    Marker Score: 499
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.18
    Marker Score: 45
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.18
    Marker Score: 46
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.18
    Marker Score: 51
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.17
    Marker Score: 723
  • Cell Name: mesothelial fibroblast (CL4023054)
    Fold Change: 0.17
    Marker Score: 51
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.17
    Marker Score: 86

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Other Information

**Key characteristics:** * The GLRA1 gene is located on chromosome 17q21.1. * The protein is a single-pass transmembrane protein with a molecular weight of approximately 140 kDa. * The GLRA1 gene is a member of the glycine receptor family of ion channels. * The protein is expressed in a variety of cell types, including retinal cone cells, enterocytes, colon goblet cells, skeletal muscle fibers, mural cells, intestinal crypt stem cells, kidney proximal convoluted tubule epithelial cells, cardiac endothelial cells, lens fiber cells, and transit amplifying cells. **Pathways and functions:** * The GLRA1 gene is involved in regulating chloride transport across the cell membrane. * The protein is a chloride channel, which allows chloride ions to flow down their concentration gradient. * The GLRA1 gene is also involved in excitatory extracellular ligand-gated monoatomic ion channel activity and the regulation of presynaptic membrane potential. * The protein is a ligand-gated monoatomic ion channel, which is involved in a variety of cellular processes, including muscle contraction and neuronal signal transmission. * The GLRA1 gene is also involved in the regulation of respiratory gaseous exchange by the nervous system. **Clinical significance:** Mutations in the GLRA1 gene have been linked to a number of human diseases, including glaucoma, epilepsy, and schizophrenia. These diseases are characterized by abnormal chloride channel function, which can lead to a variety of symptoms, including visual problems, seizures, and cognitive impairment.

Genular Protein ID: 1381578589

Symbol: GLRA1_HUMAN

Name: Glycine receptor subunit alpha-1

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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. For the full schema, download it here.