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Glra1 Gene Detail
Summary
  • Symbol
    Glra1
  • Name
    glycine receptor, alpha 1 subunit
  • Synonyms
    B230397M16Rik, nmf11, oscillator, ot
  • Feature Type
    protein coding gene
  • IDs
    MGI:95747
    NCBI Gene: 14654
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:55405065-55499024 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 33.12 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2842 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95747
protein coding gene Chr11:55405064-55499024 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018333
protein coding gene Chr11:55052594-55151710 (-)
A/J MGP_AJ_G0018302
protein coding gene Chr11:53003279-53100891 (-)
AKR/J MGP_AKRJ_G0018271
protein coding gene Chr11:54729495-54833551 (-)
BALB/cJ MGP_BALBcJ_G0018273
protein coding gene Chr11:53332077-53427796 (-)
C3H/HeJ MGP_C3HHeJ_G0018084
protein coding gene Chr11:54664406-54763201 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018725
protein coding gene Chr11:56715388-56819885 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016375
protein coding gene Chr11:50415336-50510558 (-)
CAST/EiJ MGP_CASTEiJ_G0017649
protein coding gene Chr11:54709693-54820501 (-)
CBA/J MGP_CBAJ_G0018059
protein coding gene Chr11:59414822-59526729 (-)
DBA/2J MGP_DBA2J_G0018168
protein coding gene Chr11:52682129-52778449 (-)
FVB/NJ MGP_FVBNJ_G0018160
protein coding gene Chr11:52350939-52447936 (-)
LP/J MGP_LPJ_G0018243
protein coding gene Chr11:55511070-55611054 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018186
protein coding gene Chr11:60585842-60694666 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018767
protein coding gene Chr11:54757739-54865437 (-)
PWK/PhJ MGP_PWKPhJ_G0017422
protein coding gene Chr11:53258409-53360960 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017217
protein coding gene Chr11:54543749-54658496 (-)
WSB/EiJ MGP_WSBEiJ_G0017697
protein coding gene Chr11:54397824-54497565 (-)



Homology
more
  • Human Ortholog
    GLRA1, glycine receptor alpha 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GLRA1, glycine receptor alpha 1
  • Synonyms
    HKPX1, STHE
  • Links
    NCBI Gene ID: 2741
    neXtProt AC: NX_P23415
    UniProt: P23415

  • Chr Location
    5q33.1; chr5:151822513-151924851 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with Glra1 mouse models; 1 with human GLRA1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 9 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14654 NCBI Gene Model | MGI Sequence Detail 93960 C57BL/6J ±  kb
    transcript NM_001290821 RefSeq | MGI Sequence Detail 2413 ZRU/MplStud  
    polypeptide Q64018 UniProt | EBI | MGI Sequence Detail 457 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000008042 glycine receptor subunit alpha-1
    • InterPro Domains
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      IPR008127 Glycine receptor alpha
      IPR008128 Glycine receptor alpha1
      IPR038050 Neuronal acetylcholine receptor
      IPR006201 Neurotransmitter-gated ion-channel
      IPR018000 Neurotransmitter-gated ion-channel, conserved site
      IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
    • GlyGen
      Q64018 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 4
      cDNA 12
      Primer pair 1
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10130, MGD-MRK-13058, MGD-MRK-14516, MGI:2429917, MGI:2444829
    References
    more
    • Summaries
      All 112
      Developmental Gene Expression 8
      Diseases 6
      Gene Ontology 30
      Phenotypes 54
    • Earliest
      J:5286 Lane PW, Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J. J Hered. 1972 May-Jun;63(3):135-40
    • Latest
      J:346212 Wiessler AL, et al., Role of the Glycine Receptor beta Subunit in Synaptic Localization and Pathogenicity in Severe Startle Disease. J Neurosci. 2024 Jan 10;44(2)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory