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    Glra1 glycine receptor, alpha 1 subunit [ Mus musculus (house mouse) ]

    Gene ID: 14654, updated on 21-Apr-2024

    Summary

    Official Symbol
    Glra1provided by MGI
    Official Full Name
    glycine receptor, alpha 1 subunitprovided by MGI
    Primary source
    MGI:MGI:95747
    See related
    Ensembl:ENSMUSG00000000263 AllianceGenome:MGI:95747
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ot; spd; nmf11; spasmodic; oscillator
    Summary
    Enables extracellularly glycine-gated chloride channel activity; glycine binding activity; and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Involved in glycinergic synaptic transmission; inhibitory postsynaptic potential; and response to alcohol. Acts upstream of or within several processes, including adult walking behavior; regulation of respiratory gaseous exchange by nervous system process; and righting reflex. Located in several cellular components, including external side of plasma membrane; glycinergic synapse; and inhibitory synapse. Is expressed in brain; brainstem; and spinal cord. Used to study hyperekplexia and hyperekplexia 1. Human ortholog(s) of this gene implicated in hyperekplexia 1. Orthologous to human GLRA1 (glycine receptor alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cerebellum adult (RPKM 5.8), CNS E11.5 (RPKM 0.5) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11 B1.3; 11 33.12 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (55405065..55499024, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (55514239..55608198, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene 12238 Neighboring gene G3BP stress granule assembly factor 1 Neighboring gene microRNA 7652 Neighboring gene predicted gene 12236 Neighboring gene STARR-seq mESC enhancer starr_29547 Neighboring gene STARR-seq mESC enhancer starr_29550 Neighboring gene STARR-seq mESC enhancer starr_29551 Neighboring gene STARR-seq mESC enhancer starr_29552 Neighboring gene STARR-seq mESC enhancer starr_29553 Neighboring gene predicted gene, 50502 Neighboring gene STARR-seq mESC enhancer starr_29554 Neighboring gene predicted gene 12239 Neighboring gene STARR-seq mESC enhancer starr_29558 Neighboring gene neuromedin U receptor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (5)  1 citation
    • Targeted (6)  1 citation
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (4) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • B230397M16Rik

    Gene Ontology Provided by MGI

    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 extracellular ligand-gated monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellularly glycine-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellularly glycine-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to extracellularly glycine-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables extracellularly glycine-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables extracellularly glycine-gated ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables glycine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glycine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables taurine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmitter-gated monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within acrosome reaction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to amino acid stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to ethanol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to zinc ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chemical synaptic transmission, postsynaptic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within inhibitory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inhibitory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic anion transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within monoatomic ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoatomic ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transmission of nerve impulse ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process controlling posture IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuropeptide signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of acrosome reaction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of postsynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of respiratory gaseous exchange IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to alcohol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within righting reflex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within startle response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within startle response ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within synaptic transmission, glycinergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic transmission, glycinergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic transmission, glycinergic ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in calyx of Held ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glycinergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glycinergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in glycinergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in inhibitory synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular anatomical structure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic specialization membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    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)

    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_001290821.1NP_001277750.1  glycine receptor subunit alpha-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001277750.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK078258, AL596207, AY129229
      Consensus CDS
      CCDS70190.1
      UniProtKB/Swiss-Prot
      Q5NCT8, Q64018, Q64019, Q9R0Y6, Q9R0Y7
      Related
      ENSMUSP00000075032.5, ENSMUST00000075603.5
      Conserved Domains (1) summary
      TIGR00860
      Location:7446
      LIC; Cation transporter family protein
    2. NM_020492.4NP_065238.2  glycine receptor subunit alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_065238.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK078258, AL596207, AY129229
      Consensus CDS
      CCDS24715.1
      UniProtKB/TrEMBL
      Q5NCT9
      Related
      ENSMUSP00000099777.4, ENSMUST00000102716.10
      Conserved Domains (1) summary
      TIGR00860
      Location:7438
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      55405065..55499024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)