Gad1 MGI Mouse Gene Detail - MGI:95632 - glutamate decarboxylase 1

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
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr2:70561765-70602014 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 41.63 cM, cytoband D
Mapping Data

24 experiments

SNPs within 2kb

245 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95632	protein coding gene	Chr2:70553072-70602014 (.)
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 (+)

Human Ortholog

GAD1, glutamate decarboxylase 1

Vertebrate Orthologs

9

Human Ortholog

GAD1, glutamate decarboxylase 1
Orthology source: HomoloGene, HGNC
Synonyms

CPSQ1, GAD, SCP
Links

HGNC:4092

NCBI Gene ID: 2571

neXtProt AC: NX_Q99259

UniProt: Q99259
Chr Location

2q31.1; chr2:170813210-170861151 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 635
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: GAD1
Protein SuperFamily

glutamate decarboxylase
Gene Tree

Gad1

Diseases

1 with human GAD1 associations

				Human Disease	Mouse Models
				spastic quadriplegia IDs spastic quadriplegia DOID:10970 ICD9CM_2006:343.2 ICD9CM:343.2 MESH:D002547 OMIM:603513 OMIM:612900 ORDO:210141 UMLS_CUI:C0154697

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

39 phenotypes from 10 alleles in 8 genetic backgrounds
21 phenotypes from multigenic genotypes
3 images
233 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

23
Chemically induced (other)

1
Gene trapped

2
Targeted

16
Transgenic

4
Genomic Mutations

5 involving Gad1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

26
GO References

14

External Resources

FuncBase

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 death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

1021
Tissues

402
cDNA Data

71
Literature Summary

357

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA GAD1

Xenbase gad1.1, gad1.2

ZFIN gad1a, gad1b

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Gad1 interacts with 295 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

81
RefSeq

17
UniProt

7
CCDS

CCDS16108.1, CCDS84535.1
UniGene

272120

Ensembl

ENSMUSG00000070880 (Evidence)
NCBI Gene

14415

			Length	Strain/Species	Flank
genomic	14415	NCBI Gene Model \| MGI Sequence Detail	40250	C57BL/6J	± kb
transcript	NM_008077	RefSeq \| MGI Sequence Detail	3283	C57BL/6
polypeptide	P48318	UniProt \| EBI \| MGI Sequence Detail	593	Not Applicable

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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

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All nucleic 134

Genomic 20

cDNA 80

Primer pair 32

Other 2

Microarray probesets 5

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MGD-MRK-9953, MGD-MRK-9957, MGI:2152825

Summaries

All 625

Developmental Gene Expression 357

Gene Ontology 14

Phenotypes 233
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:266242 Desmaris E, et al., DMRT5, DMRT3, and EMX2 Cooperatively Repress Gsx2 at the Pallium-Subpallium Boundary to Maintain Cortical Identity in Dorsal Telencephalic Progenitors. J Neurosci. 2018 Oct 17;38(42):9105-9121

TSS for Gad1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18211	Chr2:70561986-70562003 (+)	230 bp
Tssr18212	Chr2:70562007-70562037 (+)	257 bp
Tssr18213	Chr2:70562112-70562123 (+)	353 bp
Tssr18214	Chr2:70562132-70562143 (+)	373 bp
Tssr18215	Chr2:70562147-70562208 (+)	413 bp
Tssr18216	Chr2:70562854-70562871 (+)	1,098 bp
Tssr18217	Chr2:70563318-70563330 (+)	1,559 bp
Tssr18218	Chr2:70563373-70563433 (+)	1,638 bp
Tssr18219	Chr2:70563435-70563461 (+)	1,683 bp
Tssr18220	Chr2:70563536-70563547 (+)	1,777 bp
Tssr18221	Chr2:70563551-70563572 (+)	1,797 bp
Tssr18222	Chr2:70563629-70563663 (+)	1,881 bp
Tssr18223	Chr2:70563677-70563709 (+)	1,928 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/06/2018 MGI 6.13