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GLRA1 glycine receptor alpha 1 [ Homo sapiens (human) ]

Gene ID: 2741, updated on 12-Jan-2019

Summary

Official Symbol
GLRA1provided by HGNC
Official Full Name
glycine receptor alpha 1provided by HGNC
Primary source
HGNC:HGNC:4326
See related
Ensembl:ENSG00000145888 MIM:138491
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STHE; HKPX1
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GLRA1 in Genome Data Viewer
Location:
5q33.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (151822513..151924836, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (151202074..151304397, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100652758 Neighboring gene Sharpr-MPRA regulatory region 5918 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6 Neighboring gene G3BP stress granule assembly factor 1 Neighboring gene uncharacterized LOC112267935 Neighboring gene transfer RNA-Gln (CTG) 13-1 Neighboring gene glutamate-ammonia ligase pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 198 Neighboring gene long intergenic non-protein coding RNA 1933 Neighboring gene uncharacterized LOC105378236

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC138878, MGC138879

Gene Ontology Provided by GOA

Process Evidence Code Pubs
acrosome reaction IEA
Inferred from Electronic Annotation
more info
 
action potential IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to ethanol IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
inhibitory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport IDA
Inferred from Direct Assay
more info
PubMed 
muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transmission of nerve impulse IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
 
neuropeptide signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of acrosome reaction IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of respiratory gaseous exchange by neurological system process IEA
Inferred from Electronic Annotation
more info
 
response to alcohol ISS
Inferred from Sequence or Structural Similarity
more info
 
response to amino acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
righting reflex IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
startle response IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission, glycinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, glycinergic ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
glycinergic synapse IEA
Inferred from Electronic Annotation
more info
 
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
glycine receptor subunit alpha-1
Names
glycine receptor 48 kDa subunit
glycine receptor strychnine-binding subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011764.1 RefSeqGene

    Range
    5001..107324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000171.3NP_000162.2  glycine receptor subunit alpha-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_000162.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of the last exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK226046, AK312702, BC074980, X52009
    Consensus CDS
    CCDS4320.1
    UniProtKB/Swiss-Prot
    P23415
    Related
    ENSP00000274576.4, ENST00000274576.8
    Conserved Domains (1) summary
    TIGR00860
    Location:7438
    LIC; Cation transporter family protein
  2. NM_001146040.1NP_001139512.1  glycine receptor subunit alpha-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001139512.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK226046, BC114947, X52009
    Consensus CDS
    CCDS54942.1
    UniProtKB/Swiss-Prot
    P23415
    Related
    ENSP00000411593.2, ENST00000455880.2
    Conserved Domains (1) summary
    TIGR00860
    Location:7446
    LIC; Cation transporter family protein
  3. NM_001292000.1NP_001278929.1  glycine receptor subunit alpha-1 isoform 3

    See identical proteins and their annotated locations for NP_001278929.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon in the 5' region, which results in translation initiation at a downstream AUG start codon, and contains an alternate splice site at the 5' end of the last exon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment in the C-terminal region, compared to isoform 1.
    Source sequence(s)
    AK226046, AK308539, BC114967
    UniProtKB/TrEMBL
    Q14C71
    Conserved Domains (1) summary
    TIGR00860
    Location:1355
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    151822513..151924836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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