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

    Gene ID: 8001, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:4328
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GLRA3 in Genome Data Viewer
    Location:
    4q34.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174636920..174829247, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (177976596..178167115, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (175558071..175750398, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377549 Neighboring gene MPRA-validated peak5150 silencer Neighboring gene uncharacterized LOC105377551 Neighboring gene Sharpr-MPRA regulatory region 9800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:175612751-175613465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:175665327-175665908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:175699931-175700511 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables excitatory extracellular ligand-gated monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables extracellularly glycine-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycine-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    part_of glycine-gated chloride channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      D3DP44, O75311, O75816, Q5D0E3
      Related
      ENSP00000274093.3, ENST00000274093.8
      Conserved Domains (1) summary
      TIGR00860
      Location:12451
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      174636920..174829247 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416196.1XP_047272152.1  glycine receptor subunit alpha-3 isoform X2

    2. XM_047416195.1XP_047272151.1  glycine receptor subunit alpha-3 isoform X1

    3. XM_017008630.2XP_016864119.1  glycine receptor subunit alpha-3 isoform X5

      Conserved Domains (1) summary
      TIGR00860
      Location:5411
      LIC; Cation transporter family protein
    4. XM_047416197.1XP_047272153.1  glycine receptor subunit alpha-3 isoform X3

    5. XM_011532268.3XP_011530570.1  glycine receptor subunit alpha-3 isoform X6

      UniProtKB/TrEMBL
      Q9UPF3
      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
    6. XM_011532267.3XP_011530569.1  glycine receptor subunit alpha-3 isoform X4

      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_001741329.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      177976596..178167115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350883.1XP_054206858.1  glycine receptor subunit alpha-3 isoform X2

    2. XM_054350882.1XP_054206857.1  glycine receptor subunit alpha-3 isoform X1

    3. XM_054350886.1XP_054206861.1  glycine receptor subunit alpha-3 isoform X5

    4. XM_054350884.1XP_054206859.1  glycine receptor subunit alpha-3 isoform X3

    5. XM_054350887.1XP_054206862.1  glycine receptor subunit alpha-3 isoform X6

      UniProtKB/TrEMBL
      Q9UPF3
    6. XM_054350885.1XP_054206860.1  glycine receptor subunit alpha-3 isoform X4

    RNA

    1. XR_008487033.1 RNA Sequence