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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
  • Gene Overview
    MyGene.info: GAD1
Location & Maps
more
  • Sequence Map
    Chr2:70553072-70602014 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48943 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 41.63 cM, cytoband D
  • Mapping Data
    24 experiments
Homology
more
  • Human Ortholog
    GAD1, glutamate decarboxylase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GAD1, glutamate decarboxylase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CPSQ1, GAD, SCP
  • Links
    NCBI Gene ID: 2571
    neXtProt AC: NX_Q99259

  • Chr Location
    2q31.1; chr2:170813210-170861151 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human GAD1 associations

Human Disease Mouse Models
       Cerebral Palsy, Spastic Quadriplegic, 1; CPSQ1   OMIM: 603513
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 10 alleles in 8 genetic backgrounds
    21 phenotypes from multigenic genotypes
    3 images
    161 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.
  • All Mutations and Alleles
    19
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    16
  • Genomic Mutations
    1 involving Gad1
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033269 VEGA Gene Model | MGI Sequence Detail 48943 C57BL/6J ±  kb
transcript OTTMUST00000083419 VEGA | MGI Sequence Detail 3355 Not Applicable  
polypeptide OTTMUSP00000044832 VEGA | MGI Sequence Detail 593 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    288 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000007785 glutamate decarboxylase 1
  • EC
  • InterPro Domains
    IPR021115 Pyridoxal-phosphate binding site
    IPR002129 Pyridoxal phosphate-dependent decarboxylase
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Molecular
Reagents
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  • All nucleic 105
    Genomic 20
    cDNA 76
    Primer pair 7
    Other 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9953, MGD-MRK-9957, MGI:2152825
References
more
  • Summaries
    All 495
    Developmental Gene Expression 301
    Gene Ontology 14
    Phenotypes 161
  • 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:235721 Menuchin-Lasowski Y, et al., Sip1 regulates the generation of the inner nuclear layer retinal cell lineages in mammals. Development. 2016 Aug 1;143(15):2829-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory