Seroatlas · Human Serome Atlas

GLRA1

Glycine receptor subunit alpha-1

Also known as: GLRA1_HUMAN, STHE

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P23415
Gene
GLRA1
Ensembl
ENSG00000145888
Chromosome
5
Canonical length
457 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters
Subcellular location
Vesicles,Plasma membrane
Quaternary structure
Homopentamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

457 residues, UniProt reviewed canonical sequence.

>P23415|GLRA1
     1  MYSFNTLRLY LWETIVFFSL AASKEAEAAR SAPKPMSPSD FLDKLMGRTS GYDARIRPNF
    61  KGPPVNVSCN IFINSFGSIA ETTMDYRVNI FLRQQWNDPR LAYNEYPDDS LDLDPSMLDS
   121  IWKPDLFFAN EKGAHFHEIT TDNKLLRISR NGNVLYSIRI TLTLACPMDL KNFPMDVQTC
   181  IMQLESFGYT MNDLIFEWQE QGAVQVADGL TLPQFILKEE KDLRYCTKHY NTGKFTCIEA
   241  RFHLERQMGY YLIQMYIPSL LIVILSWISF WINMDAAPAR VGLGITTVLT MTTQSSGSRA
   301  SLPKVSYVKA IDIWMAVCLL FVFSALLEYA AVNFVSRQHK ELLRFRRKRR HHKSPMLNLF
   361  QEDEAGEGRF NFSAYGMGPA CLQAKDGISV KGANNSNTTN PPPAPSKSPE EMRKLFIQRA
   421  KKIDKISRIG FPMAFLIFNM FYWIIYKIVR REDVHNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLRA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
2.3 nTPM

Expression across tissuesHPA

Tissue

  • retina: 2.3 nTPM
  • adrenal gland: 0.3 nTPM
  • hypothalamus: 0.3 nTPM
  • midbrain: 0.3 nTPM
  • pancreas: 0.2 nTPM
  • spinal cord: 0.2 nTPM

Single-cell type

  • retinal bipolar cells: 82 nCPM
  • adrenal medulla cells: 43 nCPM
  • cardiomyocytes: 40 nCPM
  • retinal amacrine cells: 31 nCPM
  • hepatic stellate cells: 26 nCPM
  • retinal ganglion cells: 23 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 87 nTPM
  • pons: 66 nTPM
  • spinal cord: 47 nTPM
  • midbrain: 30 nTPM
  • cerebellum: 27 nTPM
  • hypothalamus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLRA1.

Disease | AllUniProt

Conditions GLRA1 is implicated in, by any mechanism.

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 572 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | AutoantibodyPubMed

Conditions in which antibodies against GLRA1 are reported. Each links to that disease's full target list.

Showing 3 of 7 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for GLRA1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

52 publications

Show 20 more of 52 total

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.76
gnomAD pLI
0
gnomAD missense Z
1.42
DepMap mean gene effect
-0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GLRA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GLRA1 as an antibody target. Whether an autoantibody or antibody against GLRA1 could matter depends on whether native GLRA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GLRA1 is annotated at the cell surface, where native GLRA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GLRA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GLRA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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