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Gad1 Gene Detail
Summary
  • Symbol
    Gad1
  • Name
    glutamate decarboxylase 1
  • Synonyms
    EP10, Gad-1, GAD25, GAD44, GAD67, Z49976
  • Feature Type
    protein coding gene
  • IDs
    MGI:95632
    NCBI Gene: 14415
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:70392109-70432358 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 41.63 cM, cytoband D
  • Mapping Data
    24 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1026 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95632
 protein coding gene Chr2:70383416-70432358 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025813
 protein coding gene Chr2:70602773-70655317 (+)
A/J MGP_AJ_G0025790
 protein coding gene Chr2:67857683-67907377 (+)
AKR/J MGP_AKRJ_G0025759
 protein coding gene Chr2:69700817-69751120 (+)
BALB/cJ MGP_BALBcJ_G0025785
 protein coding gene Chr2:68047140-68096470 (+)
C3H/HeJ MGP_C3HHeJ_G0025545
 protein coding gene Chr2:69927039-69977976 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026232
 protein coding gene Chr2:72727107-72781136 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023635
 protein coding gene Chr2:65091616-65140520 (+)
CAST/EiJ MGP_CASTEiJ_G0025009
 protein coding gene Chr2:70082935-70135779 (+)
CBA/J MGP_CBAJ_G0025525
 protein coding gene Chr2:75419379-75474207 (+)
DBA/2J MGP_DBA2J_G0025656
 protein coding gene Chr2:67492443-67541944 (+)
FVB/NJ MGP_FVBNJ_G0025619
 protein coding gene Chr2:66867073-66918035 (+)
LP/J MGP_LPJ_G0025745
 protein coding gene Chr2:70449816-70502855 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025648
 protein coding gene Chr2:77443589-77495435 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026289
 protein coding gene Chr2:69799956-69849827 (+)
PWK/PhJ MGP_PWKPhJ_G0024750
 protein coding gene Chr2:67350339-67400889 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024557
 protein coding gene Chr2:70008278-70056606 (+)
WSB/EiJ MGP_WSBEiJ_G0025077
 protein coding gene Chr2:70232774-70284679 (+)



Homology
more
  • Human Ortholog
    GAD1, glutamate decarboxylase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GAD1, glutamate decarboxylase 1
  • Synonyms
    CPSQ1, DEE89, GAD, SCP
  • Links
    NCBI Gene ID: 2571
    neXtProt AC: NX_Q99259
    UniProt: Q99259

  • Chr Location
    2q31.1; chr2:170813210-170861151 (+)  GRCh38
Human Diseases
more
  • Diseases
    9 with human GAD1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 9 alleles in 9 genetic backgrounds
    23 phenotypes from multigenic genotypes
    3 images
    397 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.
Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    18
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
less
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
    2101
  • Tissues
    507
  • cDNA Data
    76
  • Literature Summary
    492
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14415 NCBI Gene Model | MGI Sequence Detail 40250 C57BL/6J ±  kb
    transcript NM_001420099 RefSeq | MGI Sequence Detail 3561 ZRU/MplStud  
    polypeptide P48318 UniProt | EBI | MGI Sequence Detail 593 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000007785 glutamate decarboxylase 1
      (term hierarchy)
    • EC
      4.1.1.15
    • InterPro Domains
      IPR021115 Pyridoxal-phosphate binding site
      IPR002129 Pyridoxal phosphate-dependent decarboxylase
      IPR015424 Pyridoxal phosphate-dependent transferase
      IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    • GlyGen
      P48318 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 174
      Genomic 20
      cDNA 90
      Primer pair 40
      Other 24

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9953, MGD-MRK-9957, MGI:2152825
    References
    more
    • Summaries
      All 904
      Developmental Gene Expression 492
      Gene Ontology 18
      Phenotypes 397
    • Earliest
      J:16802 Maxson SC, et al., Electroencephalographic correlates of the audiogenic seizure response of inbred mice. Physiol Behav. 1976 May;16(5):623-9
    • Latest
      J:358230 Guo B, et al., CB1R dysfunction of inhibitory synapses in the ACC drives chronic social isolation stress-induced social impairments in male mice. Neuron. 2024 Feb 7;112(3):441-457.e6
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory