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GLRA3 glycine receptor alpha 3 [ Homo sapiens (human) ]

Gene ID: 8001, updated on 1-Jun-2020

Summary

Official Symbol
GLRA3provided by HGNC
Official Full Name
glycine receptor alpha 3provided by HGNC
Primary source
HGNC:HGNC:4328
See related
Ensembl:ENSG00000145451 MIM:600421
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
Summary
This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Expression
Biased expression in brain (RPKM 2.6), adrenal (RPKM 0.4) and 1 other tissue See more
Orthologs

Genomic context

See GLRA3 in Genome Data Viewer
Location:
4q34.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (174636920..174829568, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (175545367..175750465, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377549 Neighboring gene uncharacterized LOC105377551 Neighboring gene uncharacterized LOC101928551 Neighboring gene ADAM metallopeptidase domain 29

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellularly glycine-gated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to glycine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuropeptide signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to amino acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, glycinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
glycine-gated chloride channel complex IDA
Inferred from Direct Assay
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 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glycine receptor subunit alpha-3
Names
glycine receptor, alpha-3 polypeptide
ligand gated ion channel

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.

mRNA and Protein(s)

  1. NM_001042543.3NP_001036008.1  glycine receptor subunit alpha-3 isoform b precursor

    See identical proteins and their annotated locations for NP_001036008.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as alpha3K) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
    Source sequence(s)
    AC107216, BC036086, U93917
    Consensus CDS
    CCDS43283.1
    UniProtKB/Swiss-Prot
    O75311
    Related
    ENSP00000345284.5, ENST00000340217.5
    Conserved Domains (1) summary
    TIGR00860
    Location:12436
    LIC; Cation transporter family protein
  2. NM_006529.4NP_006520.2  glycine receptor subunit alpha-3 isoform a precursor

    See identical proteins and their annotated locations for NP_006520.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as alpha3L) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC107216, AF018157, BC036086
    Consensus CDS
    CCDS3822.1
    UniProtKB/Swiss-Prot
    O75311
    UniProtKB/TrEMBL
    Q9UPF3
    Related
    ENSP00000274093.3, ENST00000274093.8
    Conserved Domains (1) summary
    TIGR00860
    Location:12451
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    174636920..174829568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008630.1XP_016864119.1  glycine receptor subunit alpha-3 isoform X1

    Conserved Domains (3) summary
    TIGR00860
    Location:5411
    LIC; Cation transporter family protein
    pfam02931
    Location:7213
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:220408
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. XM_011532268.2XP_011530570.1  glycine receptor subunit alpha-3 isoform X3

    Conserved Domains (2) summary
    pfam02931
    Location:158
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:65253
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. XM_011532267.2XP_011530569.1  glycine receptor subunit alpha-3 isoform X2

    Conserved Domains (2) summary
    pfam02931
    Location:47253
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:260309
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

  1. XR_001741328.1 RNA Sequence

  2. XR_001741329.1 RNA Sequence

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