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
Alliance

gene page
Transcription Start Sites

17 TSS

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

SNPs within 2kb

1026 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	Chr2:70383416-70432358 (+)
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 (+)

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

HGNC:4092

NCBI Gene ID: 2571

neXtProt AC: NX_Q99259

UniProt: Q99259
Chr Location

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

MGI Vertebrate Homology

Gad1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: GAD1
Gene Tree

Gad1

Diseases

9 with human GAD1 associations

				Human Disease	Mouse Models
				alcohol dependence IDs alcohol dependence DOID:0050741 KEGG:05034 OMIM:103780
				amphetamine abuse IDs amphetamine abuse DOID:670 DOID:12067 DOID:14436 DOID:669 ICD9CM:305.7 UMLS_CUI:C0154536
				anxiety disorder IDs anxiety disorder DOID:2030 DOID:12884 ICD10CM:F41.9 ICD9CM:300.09 MESH:D001008 NCI:C2878 OMIM:607834 UMLS_CUI:C0003469
				bipolar disorder IDs bipolar disorder DOID:3312 DOID:3311 DOID:9554 DOID:9555 ICD10CM:F31 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MESH:D001714 NCI:C34423 NCI:C34424 NCI:C34805 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780
				developmental and epileptic encephalopathy 89 IDs developmental and epileptic encephalopathy 89 DOID:0112223 OMIM:619124
				drug psychosis IDs drug psychosis DOID:1742 ICD9CM_2006:292.1 ICD9CM:292.1 MESH:D011605 UMLS_CUI:C0033937
				heroin dependence IDs heroin dependence DOID:9976 MESH:D006556 NCI:C34694 UMLS_CUI:C0019337
				schizophrenia IDs schizophrenia DOID:5419 DOID:14734 ICD10CM:F20 ICD9CM:295 ICD9CM:295.8 ICD9CM:295.80 ICD9CM:295.9 ICD9CM:295.90 MESH:D012559 NCI:C3362 OMIM:181500 UMLS_CUI:C0036341
				withdrawal disorder IDs withdrawal disorder DOID:0060001

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

less

Phenotype Summary

51 phenotypes from 9 alleles in 9 genetic backgrounds
23 phenotypes from multigenic genotypes
3 images
400 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	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

29
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

2
Targeted

17
Transgenic

4
Genomic Mutations

5 involving Gad1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

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.

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.

less

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

2101
Tissues

507
cDNA Data

76
Literature Summary

492

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, gad1.2

ZFIN gad1a, gad1b

less

All Sequences

89
RefSeq

24
UniProt

7
CCDS

CCDS16108.1, CCDS84535.1

Ensembl

ENSMUSG00000070880 (Evidence)
NCBI Gene

14415

			Length	Strain/Species	Flank
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

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)

less

All nucleic 174

Genomic 20

cDNA 90

Primer pair 40

Other 24

Microarray probesets 5

less

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

Summaries

All 907

Developmental Gene Expression 492

Gene Ontology 18

Phenotypes 400
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:358942 Tomioka R, et al., The External Globus Pallidus as the Hub of the Auditory Cortico-Basal Ganglia Loop. eNeuro. 2024 Nov;11(11)

TSS for Gad1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18208	Chr2:70391602-70391612 (+)	-502 bp
Tssr18209	Chr2:70391628-70391651 (+)	-469 bp
Tssr18210	Chr2:70391850-70391870 (+)	-249 bp
Tssr18211	Chr2:70392330-70392347 (+)	230 bp
Tssr18212	Chr2:70392351-70392381 (+)	257 bp
Tssr18213	Chr2:70392456-70392467 (+)	353 bp
Tssr18214	Chr2:70392476-70392487 (+)	373 bp
Tssr18215	Chr2:70392491-70392552 (+)	413 bp
Tssr18216	Chr2:70393198-70393215 (+)	1,098 bp
Tssr18217	Chr2:70393662-70393674 (+)	1,559 bp
Tssr18218	Chr2:70393717-70393777 (+)	1,638 bp
Tssr18219	Chr2:70393779-70393805 (+)	1,683 bp
Tssr18220	Chr2:70393880-70393891 (+)	1,777 bp
Tssr18221	Chr2:70393895-70393916 (+)	1,797 bp
Tssr18222	Chr2:70393973-70394007 (+)	1,881 bp
Tssr18223	Chr2:70394021-70394053 (+)	1,928 bp
Tssr18224	Chr2:70432067-70432106 (+)	39,978 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24