• Gene id: 2571

Gene Summary

• Gene Symbol: GAD1   Gene   UCSC   Ensembl
• Aliases: CPSQ1, GAD, SCP
• Gene name: glutamate decarboxylase 1
• Alternate names: glutamate decarboxylase 1, 67 kDa glutamic acid decarboxylase, GAD-67, glutamate decarboxylase 1 (brain, 67kDa), glutamate decarboxylase 67 kDa isoform,
• Gene location: 2q31.1 (170813209: 170861150)     Exons: 21     NC_000002.12
• Gene summary(Entrez): This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A path
• OMIM: 605363

Protein Summary

• Protein general information: Q99259  
  • Name: Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa glutamic acid decarboxylase) (GAD 67) (Glutamate decarboxylase 67 kDa isoform)
  • Length: 594  
  • Mass: 66897
  • Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO
• Sequence:

  MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKN
  LLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEG
  MEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLM
  EQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA
  LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAA
  WGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGD
  KAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGV
  PDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL

• Structural information:
  • Interpro: IPR002129  IPR015424  IPR015421  IPR021115  
  • Prosite: PS00392
  • PDB: 2OKJ 3VP6
  • PDBsum: 2OKJ 3VP6
  • DIP: 29292
  • STRING: ENSP00000350928
• Other Databases: GeneCards:  GAD1  Malacards:  GAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0042136	neurotransmitter biosynthetic process	IEA	biological process
GO:0006540	glutamate decarboxylation to succinate	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0004351	glutamate decarboxylase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0009449	gamma-aminobutyric acid biosynthetic process	IEA	biological process
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0016595	glutamate binding	IEA	molecular function
GO:0004351	glutamate decarboxylase activity	IEA	molecular function
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0035641	locomotory exploration behavior	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0004351	glutamate decarboxylase activity	IDA	molecular function
GO:0018352	protein-pyridoxal-5-phosphate linkage	TAS	biological process
GO:0006538	glutamate catabolic process	TAS	biological process
GO:0012506	vesicle membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04727	GABAergic synapse
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00410	beta-Alanine metabolism
hsa00650	Butanoate metabolism
hsa04940	Type I diabetes mellitus
hsa00430	Taurine and hypotaurine metabolism

Diseases

Associated diseases	References
Spastic quadriplegic cerebral palsy	KEGG:H01097
Spastic quadriplegic cerebral palsy	KEGG:H01097
Anxiety disorder	PMID:22328461
Bipolar disorder	PMID:18534564
Schizophrenia	PMID:18534564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq