GAD1

Functionⁱ

Catalyzes the production of GABA.

Catalytic activityⁱ

L-glutamate = 4-aminobutanoate + CO₂.

Cofactorⁱ

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Binding siteⁱ	567	Substrate		1

GO - Molecular functionⁱ

glutamate binding Source: Ensembl
glutamate decarboxylase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 10671565
protein heterodimerization activity Source: Ensembl
protein N-terminus binding Source: Ensembl
pyridoxal phosphate binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

chemical synaptic transmission
Source: ProtInc
Traceable author statementⁱ
- 8954991
gamma-aminobutyric acid biosynthetic process Source: Ensembl
glutamate catabolic process
Source: UniProtKB
Traceable author statementⁱ
- 10671565
glutamate decarboxylation to succinate
Source: ProtInc
Traceable author statementⁱ
- 1549570
locomotory exploration behavior Source: Ensembl
protein-pyridoxal-5-phosphate linkage
Source: UniProtKB
Traceable author statementⁱ
- 10671565
response to drug Source: Ensembl
social behavior Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Decarboxylase, Lyase
Biological process	Neurotransmitter biosynthesis
Ligand	Pyridoxal phosphate

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS05215-MONOMER
BRENDAⁱ	4.1.1.15 2681
Reactomeⁱ	R-HSA-888568 GABA synthesis R-HSA-888590 GABA synthesis, release, reuptake and degradation
SIGNORⁱ	Q99259

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Glutamate decarboxylase 1 (EC:4.1.1.15) Alternative name(s): 67 kDa glutamic acid decarboxylase Short name: GAD-67 Glutamate decarboxylase 67 kDa isoform
Gene namesⁱ	Name:GAD1 Synonyms:GAD, GAD67
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000128683.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4092 GAD1
MIMⁱ	605363 gene
neXtProtⁱ	NX_Q99259

Subcellular locationⁱ

GO - Cellular component

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cerebral palsy, spastic quadriplegic 1 (CPSQ1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2571
MalaCards human disease database More...MalaCardsⁱ	GAD1
MIMⁱ	603513 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000128683
Orphanetⁱ	210141 Inherited congenital spastic tetraplegia
PharmGKBⁱ	PA28507

Chemistry databases

ChEMBLⁱ	CHEMBL2614
Drug and drug target database More...DrugBankⁱ	DB00142 L-Glutamic Acid DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaⁱ	GAD1
DMDMⁱ	1352213

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000146963	1 – 594	Glutamate decarboxylase 1Add BLAST		594

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	78	PhosphoserineBy similarity		1
Modified residueⁱ	405	N6-(pyridoxal phosphate)lysine		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q99259
PaxDbⁱ	Q99259
PeptideAtlas More...PeptideAtlasⁱ	Q99259
PRIDEⁱ	Q99259
ProteomicsDBⁱ	78255 78256 [Q99259-3]

PTM databases

iPTMnetⁱ	Q99259
PhosphoSitePlusⁱ	Q99259

Expressionⁱ

Tissue specificityⁱ

Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000128683 Expressed in 150 organ(s), highest expression level in middle temporal gyrus
CleanExⁱ	HS_GAD1
ExpressionAtlasⁱ	Q99259 baseline and differential
Genevisibleⁱ	Q99259 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB004415 CAB078176 HPA031949 HPA058412

HPAⁱ

CAB004415
CAB078176
HPA031949
HPA058412

Interactionⁱ

Subunit structureⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
AGTRAP	Q6RW13	3	EBI-743184,EBI-741181
AGTRAP	Q6RW13-2	5	EBI-743184,EBI-11522760
CMTM5	Q96DZ9	4	EBI-743184,EBI-2548702
CMTM5	Q96DZ9-2	5	EBI-743184,EBI-11522780
HAAO	P46952	6	EBI-743184,EBI-743215
MAL2	Q969L2	5	EBI-743184,EBI-944295
NCK1	P16333	2	EBI-743184,EBI-389883
STK3	Q13188	3	EBI-743184,EBI-992580

GO - Molecular functionⁱ

protein heterodimerization activity Source: Ensembl
protein N-terminus binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108845, 11 interactors
ComplexPortalⁱ	CPX-3032 Glutamate decarboxylase 1 complex CPX-3065 Glutamate decarboxylase 1/2 complex
Database of interacting proteins More...DIPⁱ	DIP-29292N
IntActⁱ	Q99259, 10 interactors
Molecular INTeraction database More...MINTⁱ	Q99259
STRINGⁱ	9606.ENSP00000350928

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Turnⁱ	94 – 97	Combined sources	4
Helixⁱ	100 – 102	Combined sources	3
Helixⁱ	110 – 131	Combined sources	22
Helixⁱ	144 – 149	Combined sources	6
Helixⁱ	165 – 177	Combined sources	13
Beta strandⁱ	187 – 192	Combined sources	6
Helixⁱ	197 – 209	Combined sources	13
Beta strandⁱ	212 – 214	Combined sources	3
Turnⁱ	216 – 218	Combined sources	3
Helixⁱ	220 – 237	Combined sources	18
Beta strandⁱ	241 – 243	Combined sources	3
Beta strandⁱ	245 – 251	Combined sources	7
Helixⁱ	252 – 267	Combined sources	16
Helixⁱ	270 – 274	Combined sources	5
Helixⁱ	276 – 278	Combined sources	3
Beta strandⁱ	282 – 287	Combined sources	6
Helixⁱ	293 – 300	Combined sources	8
Helixⁱ	305 – 307	Combined sources	3
Beta strandⁱ	308 – 311	Combined sources	4
Helixⁱ	321 – 333	Combined sources	13
Beta strandⁱ	337 – 346	Combined sources	10
Beta strandⁱ	348 – 350	Combined sources	3
Helixⁱ	356 – 366	Combined sources	11
Beta strandⁱ	369 – 374	Combined sources	6
Helixⁱ	377 – 382	Combined sources	6
Turnⁱ	384 – 386	Combined sources	3
Helixⁱ	387 – 390	Combined sources	4
Helixⁱ	393 – 395	Combined sources	3
Beta strandⁱ	397 – 401	Combined sources	5
Beta strandⁱ	414 – 420	Combined sources	7
Helixⁱ	423 – 428	Combined sources	6
Turnⁱ	433 – 435	Combined sources	3
Helixⁱ	444 – 446	Combined sources	3
Helixⁱ	449 – 451	Combined sources	3
Helixⁱ	461 – 495	Combined sources	35
Beta strandⁱ	500 – 506	Combined sources	7
Beta strandⁱ	509 – 511	Combined sources	3
Beta strandⁱ	513 – 517	Combined sources	5
Helixⁱ	520 – 522	Combined sources	3
Helixⁱ	529 – 549	Combined sources	21
Beta strandⁱ	553 – 559	Combined sources	7
Beta strandⁱ	562 – 568	Combined sources	7
Helixⁱ	577 – 591	Combined sources	15

Show more details

3D structure databases

ProteinModelPortalⁱ	Q99259
SMRⁱ	Q99259
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q99259

EvolutionaryTraceⁱ

Q99259

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	190 – 192	Substrate binding		3

Sequence similaritiesⁱ

Belongs to the group II decarboxylase family.Curated

Phylogenomic databases

eggNOGⁱ	KOG0629 Eukaryota COG0076 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119205
HOGENOMⁱ	HOG000005382
HOVERGENⁱ	HBG004980
InParanoidⁱ	Q99259
KEGG Orthology (KO) More...KOⁱ	K01580
OMAⁱ	FHKHFFQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G07ZU
PhylomeDBⁱ	Q99259
TreeFamⁱ	TF314688

Family and domain databases

Gene3Dⁱ	3.40.640.10, 1 hit
InterProⁱ	View protein in InterPro IPR002129 PyrdxlP-dep_de-COase IPR015424 PyrdxlP-dep_Trfase IPR015421 PyrdxlP-dep_Trfase_major IPR021115 Pyridoxal-P_BS
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00282 Pyridoxal_deC, 1 hit
SUPFAMⁱ	SSF53383 SSF53383, 1 hit
PROSITEⁱ	View protein in PROSITE PS00392 DDC_GAD_HDC_YDC, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q99259-1) [UniParc]FASTA Add to basket

Also known as: GAD67

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF 
        60         70         80         90        100
LQRTNSLEEK SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA 
       110        120        130        140        150
RDLLPAKNGE EQTVQFLLEV VDILLNYVRK TFDRSTKVLD FHHPHQLLEG 
       160        170        180        190        200
MEGFNLELSD HPESLEQILV DCRDTLKYGV RTGHPRFFNQ LSTGLDIIGL 
       210        220        230        240        250
AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS SKDGDGIFSP 
       260        270        280        290        300
GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA 
       310        320        330        340        350
LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY 
       360        370        380        390        400
GAFDPIQEIA DICEKYNLWL HVDAAWGGGL LMSRKHRHKL NGIERANSVT 
       410        420        430        440        450
WNPHKMMGVL LQCSAILVKE KGILQGCNQM CAGYLFQPDK QYDVSYDTGD 
       460        470        480        490        500
KAIQCGRHVD IFKFWLMWKA KGTVGFENQI NKCLELAEYL YAKIKNREEF 
       510        520        530        540        550
EMVFNGEPEH TNVCFWYIPQ SLRGVPDSPQ RREKLHKVAP KIKALMMESG 
       560        570        580        590 
TTMVGYQPQG DKANFFRMVI SNPAATQSDI DFLIEEIERL GQDL

Length:594

Mass (Da):66,897

Last modified:February 1, 1996 - v1

Checksum:ⁱ6D761C471C81FDAE

GO

Isoform 2 (identifier: Q99259-2)

Sequence is not available

Length:–

Mass (Da):–

Isoform 3 (identifier: Q99259-3) [UniParc]FASTA Add to basket

Also known as: GAD25

The sequence of this isoform differs from the canonical sequence as follows:
214-224: FTYEIAPVFVL → PSDMRECWLLR
225-594: Missing.

« Hide

        10         20         30         40         50
MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF 
        60         70         80         90        100
LQRTNSLEEK SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA 
       110        120        130        140        150
RDLLPAKNGE EQTVQFLLEV VDILLNYVRK TFDRSTKVLD FHHPHQLLEG 
       160        170        180        190        200
MEGFNLELSD HPESLEQILV DCRDTLKYGV RTGHPRFFNQ LSTGLDIIGL 
       210        220 
AGEWLTSTAN TNMPSDMREC WLLR

Note: Lacks enzymatic activity.

Show »

Length:224

Mass (Da):25,279

Checksum:ⁱ2CDCB04ECD6BC2E9

GO

Isoform 4 (identifier: Q99259-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
374-425: AAWGGGLLMS...ILVKEKGILQ → GFNFSQLANR...WAAHVQEAPP
426-594: Missing.

« Hide

        10         20         30         40         50
MASSTPSSSA TSSNAGADPN TTNLRPTTYD TWCGVAHGCT RKLGLKICGF 
        60         70         80         90        100
LQRTNSLEEK SRLVSAFKER QSSKNLLSCE NSDRDARFRR TETDFSNLFA 
       110        120        130        140        150
RDLLPAKNGE EQTVQFLLEV VDILLNYVRK TFDRSTKVLD FHHPHQLLEG 
       160        170        180        190        200
MEGFNLELSD HPESLEQILV DCRDTLKYGV RTGHPRFFNQ LSTGLDIIGL 
       210        220        230        240        250
AGEWLTSTAN TNMFTYEIAP VFVLMEQITL KKMREIVGWS SKDGDGIFSP 
       260        270        280        290        300
GGAISNMYSI MAARYKYFPE VKTKGMAAVP KLVLFTSEQS HYSIKKAGAA 
       310        320        330        340        350
LGFGTDNVIL IKCNERGKII PADFEAKILE AKQKGYVPFY VNATAGTTVY 
       360        370        380        390        400
GAFDPIQEIA DICEKYNLWL HVDGFNFSQL ANRIICLATE LMTNKGCVTW 
       410        420 
HPNYSVNMHH GCLGRWAAHV QEAPP

Note: No experimental confirmation available.

Show »

Length:425

Mass (Da):47,440

Checksum:ⁱF392B68338CC6800

GO

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

F8WD43	F8WD43_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	233	Annotation score:
C9JT43	C9JT43_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	121	Annotation score:
C9J6C9	C9J6C9_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	115	Annotation score:
U3KQR2	U3KQR2_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	84	Annotation score:
C9JLZ7	C9JLZ7_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	85	Annotation score:
C9JN45	C9JN45_HUMAN	Glutamate decarboxylase 1 Glutamate decarboxylase 1	GAD1	37	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	9	Missing in AAA35900 (Ref. 7) Curated	1
Sequence conflictⁱ	16 – 17	GA → EP in AAB59427 (PubMed:1339255).Curated	2
Sequence conflictⁱ	16 – 17	GA → EP in CAA80435 (PubMed:1339255).Curated	2
Sequence conflictⁱ	17	A → Q in AAA35900 (Ref. 7) Curated	1
Sequence conflictⁱ	18	D → N in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	31	T → N in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	68	K → R in AAA62368 (PubMed:8088791).Curated	1
Sequence conflictⁱ	116	F → L in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	136	T → A in AAA35900 (Ref. 7) Curated	1
Sequence conflictⁱ	140	D → E in AAA35900 (Ref. 7) Curated	1
Sequence conflictⁱ	142	H → R in AAA35900 (Ref. 7) Curated	1
Sequence conflictⁱ	155	N → T in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	206	T → N in AAB59427 (PubMed:1339255).Curated	1
Sequence conflictⁱ	206	T → N in CAA80435 (PubMed:1339255).Curated	1
Sequence conflictⁱ	302	G → C in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	436	F → L in AAB26937 (PubMed:8507202).Curated	1
Sequence conflictⁱ	477	E → G in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	492	A → G in AAB26938 (PubMed:8507203).Curated	1
Sequence conflictⁱ	512	N → S in AAB26937 (PubMed:8507202).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_031021	12	S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar.	1
Natural variantⁱVAR_018861	228	I → L1 PublicationCorresponds to variant dbSNP:rs45566933EnsemblClinVar.	1
Natural variantⁱVAR_011882	474	V → G. Corresponds to variant dbSNP:rs769403Ensembl.	1
Natural variantⁱVAR_011883	532	R → Q1 PublicationCorresponds to variant dbSNP:rs769402EnsemblClinVar.	1
Natural variantⁱVAR_011884	565	F → L. Corresponds to variant dbSNP:rs1049736Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_009123	214 – 224	FTYEIAPVFVL → PSDMRECWLLR in isoform 3. 2 PublicationsAdd BLAST	11
Alternative sequenceⁱVSP_009124	225 – 594	Missing in isoform 3. 2 PublicationsAdd BLAST	370
Alternative sequenceⁱVSP_054473	374 – 425	AAWGG…KGILQ → GFNFSQLANRIICLATELMT NKGCVTWHPNYSVNMHHGCL GRWAAHVQEAPP in isoform 4. 1 PublicationAdd BLAST	52
Alternative sequenceⁱVSP_054474	426 – 594	Missing in isoform 4. 1 PublicationAdd BLAST	169

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M81883 mRNA Translation: AAA62368.1 L16888 mRNA Translation: AAB59427.1 Z22750 mRNA Translation: CAA80435.1 S61897 mRNA Translation: AAB26937.1 S61898 mRNA Translation: AAB26938.1 M86522 Genomic DNA Translation: AAA35900.1 AF178853 mRNA Translation: AAF18390.2 AY337516 Genomic DNA Translation: AAP88035.1 AC007405 Genomic DNA Translation: AAY24237.1 CH471058 Genomic DNA Translation: EAX11228.1 CH471058 Genomic DNA Translation: EAX11229.1 BC002815 mRNA Translation: AAH02815.1 BC026349 mRNA Translation: AAH26349.1 BC036552 mRNA Translation: AAH36552.1 M70434 mRNA Translation: AAA52512.1 M55574 mRNA Translation: AAA72938.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2239.1 [Q99259-1] CCDS2240.1 [Q99259-3]
PIRⁱ	B41935 S48135 S51775 S51776
NCBI Reference Sequences More...RefSeqⁱ	NP_000808.2, NM_000817.2 [Q99259-1] NP_038473.2, NM_013445.3 [Q99259-3] XP_005246501.1, XM_005246444.2 [Q99259-3] XP_011509224.1, XM_011510922.1 [Q99259-1] XP_016859245.1, XM_017003756.1 [Q99259-1] XP_016859247.1, XM_017003758.1 [Q99259-3]
UniGeneⁱ	Hs.420036

Genome annotation databases

Ensemblⁱ	ENST00000344257; ENSP00000341167; ENSG00000128683 [Q99259-3] ENST00000358196; ENSP00000350928; ENSG00000128683 [Q99259-1] ENST00000375272; ENSP00000364421; ENSG00000128683 [Q99259-3] ENST00000493875; ENSP00000434696; ENSG00000128683 [Q99259-4] ENST00000625689; ENSP00000486612; ENSG00000128683 [Q99259-4]
GeneIDⁱ	2571
KEGGⁱ	hsa:2571
UCSC genome browser More...UCSCⁱ	uc002ugh.4 human [Q99259-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
Q99259	Glutamate decarboxylase 1 isoform 1 (Fragment)		HUMAN		594	UniRef100_Q99259
Glutamate decarboxylase 1		GORGO		594
GAD1 isoform 10 (Fragment)		PONAB		121
GAD1 isoform 10 (Fragment)		PANTR		121
GAD1 (Fragment)		HUMAN		87
+6
Q99259-3	GAD1 isoform 5		PANTR		224	UniRef100_A0A2J8PQQ4
GAD1 isoform 5		PONAB		224
Uncharacterized protein		MACMU		224
Uncharacterized protein		COLAP		224
Uncharacterized protein		CERAT		224
+4
Q99259-4	Glutamate decarboxylase 1		GORGO		425	UniRef100_G3RKD2

Protein	Similar proteins		Species	Score	Length	Source
Q99259	Glutamate decarboxylase 1		BOVIN		594	UniRef90_Q99259
Glutamate decarboxylase 1		CANLF		594
Glutamate decarboxylase 1		FELCA		594
Glutamate decarboxylase 1		PANTR		594
Glutamate decarboxylase 1		PONAB		594
+158
Q99259-3	Glutamate decarboxylase		RAT		223	UniRef90_Q63211
Glutamate decarboxylase 1		HUMAN		233
GAD1 isoform 8		PANTR		233
Uncharacterized protein		MACMU		233
Uncharacterized protein		COLAP		233
+67
Q99259-4	Uncharacterized protein		MACMU		416	UniRef90_F7GMA1
Uncharacterized protein		PROCO		431
GAD1 isoform 11		PANTR		425
GAD1 isoform 11		PONAB		425
Uncharacterized protein		MACFA		425
+14

Protein	Similar proteins		Species	Score	Length	Source
Q99259	Glutamate decarboxylase 1		CANLF		594	UniRef50_Q99259
Glutamate decarboxylase 1		BOVIN		594
Glutamate decarboxylase 1		PONAB		594
Glutamate decarboxylase 1		FELCA		594
Glutamate decarboxylase 1		PANTR		594
+233
Q99259-3	Glutamate decarboxylase 1a (Fragment)		Iconisemion striatum		209	UniRef50_A0A1A7YAN9
Glutamate decarboxylase 1 (Fragment)		Macqueen's bustard		165
Glutamate decarboxylase 1 isoform 10		MOUSE		226
Uncharacterized protein		AOTNA		233
Glutamate decarboxylase 1		HUMAN		233
+76
Q99259-4	glutamate decarboxylase 1-like		SALSA		535	UniRef50_A0A1S3LYF1
Uncharacterized protein		PROCO		431
Glutamate decarboxylase 1		GORGO		425
GAD1 isoform 11		PANTR		425
GAD1 isoform 11		PONAB		425
+17

Cross-referencesⁱ

Web resourcesⁱ

NIEHS-SNPs

Wikipedia

Glutamate decarboxylase entry

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M81883 mRNA Translation: AAA62368.1 L16888 mRNA Translation: AAB59427.1 Z22750 mRNA Translation: CAA80435.1 S61897 mRNA Translation: AAB26937.1 S61898 mRNA Translation: AAB26938.1 M86522 Genomic DNA Translation: AAA35900.1 AF178853 mRNA Translation: AAF18390.2 AY337516 Genomic DNA Translation: AAP88035.1 AC007405 Genomic DNA Translation: AAY24237.1 CH471058 Genomic DNA Translation: EAX11228.1 CH471058 Genomic DNA Translation: EAX11229.1 BC002815 mRNA Translation: AAH02815.1 BC026349 mRNA Translation: AAH26349.1 BC036552 mRNA Translation: AAH36552.1 M70434 mRNA Translation: AAA52512.1 M55574 mRNA Translation: AAA72938.1
CCDSⁱ	CCDS2239.1 [Q99259-1] CCDS2240.1 [Q99259-3]
PIRⁱ	B41935 S48135 S51775 S51776
RefSeqⁱ	NP_000808.2, NM_000817.2 [Q99259-1] NP_038473.2, NM_013445.3 [Q99259-3] XP_005246501.1, XM_005246444.2 [Q99259-3] XP_011509224.1, XM_011510922.1 [Q99259-1] XP_016859245.1, XM_017003756.1 [Q99259-1] XP_016859247.1, XM_017003758.1 [Q99259-3]
UniGeneⁱ	Hs.420036

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2OKJ	X-ray	2.30	A/B	93-594	[»]
	3VP6	X-ray	2.10	A/B	90-594	[»]
ProteinModelPortalⁱ	Q99259
SMRⁱ	Q99259
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108845, 11 interactors
ComplexPortalⁱ	CPX-3032 Glutamate decarboxylase 1 complex CPX-3065 Glutamate decarboxylase 1/2 complex
DIPⁱ	DIP-29292N
IntActⁱ	Q99259, 10 interactors
MINTⁱ	Q99259
STRINGⁱ	9606.ENSP00000350928

Chemistry databases

ChEMBLⁱ	CHEMBL2614
DrugBankⁱ	DB00142 L-Glutamic Acid DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetⁱ	Q99259
PhosphoSitePlusⁱ	Q99259

Polymorphism and mutation databases

BioMutaⁱ	GAD1
DMDMⁱ	1352213

Proteomic databases

EPDⁱ	Q99259
PaxDbⁱ	Q99259
PeptideAtlasⁱ	Q99259
PRIDEⁱ	Q99259
ProteomicsDBⁱ	78255 78256 [Q99259-3]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2571
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000344257; ENSP00000341167; ENSG00000128683 [Q99259-3] ENST00000358196; ENSP00000350928; ENSG00000128683 [Q99259-1] ENST00000375272; ENSP00000364421; ENSG00000128683 [Q99259-3] ENST00000493875; ENSP00000434696; ENSG00000128683 [Q99259-4] ENST00000625689; ENSP00000486612; ENSG00000128683 [Q99259-4]
GeneIDⁱ	2571
KEGGⁱ	hsa:2571
UCSCⁱ	uc002ugh.4 human [Q99259-1]

Organism-specific databases

CTDⁱ	2571
DisGeNETⁱ	2571
EuPathDBⁱ	HostDB:ENSG00000128683.13
GeneCardsⁱ	GAD1
HGNCⁱ	HGNC:4092 GAD1
HPAⁱ	CAB004415 CAB078176 HPA031949 HPA058412
MalaCardsⁱ	GAD1
MIMⁱ	603513 phenotype 605363 gene
neXtProtⁱ	NX_Q99259
OpenTargetsⁱ	ENSG00000128683
Orphanetⁱ	210141 Inherited congenital spastic tetraplegia
PharmGKBⁱ	PA28507
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0629 Eukaryota COG0076 LUCA
GeneTreeⁱ	ENSGT00760000119205
HOGENOMⁱ	HOG000005382
HOVERGENⁱ	HBG004980
InParanoidⁱ	Q99259
KOⁱ	K01580
OMAⁱ	FHKHFFQ
OrthoDBⁱ	EOG091G07ZU
PhylomeDBⁱ	Q99259
TreeFamⁱ	TF314688

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS05215-MONOMER
BRENDAⁱ	4.1.1.15 2681
Reactomeⁱ	R-HSA-888568 GABA synthesis R-HSA-888590 GABA synthesis, release, reuptake and degradation
SIGNORⁱ	Q99259

Miscellaneous databases

ChiTaRSⁱ	GAD1 human
EvolutionaryTraceⁱ	Q99259
GenomeRNAiⁱ	2571
Protein Ontology More...PROⁱ	PR:Q99259
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000128683 Expressed in 150 organ(s), highest expression level in middle temporal gyrus
CleanExⁱ	HS_GAD1
ExpressionAtlasⁱ	Q99259 baseline and differential
Genevisibleⁱ	Q99259 HS

Family and domain databases

Gene3Dⁱ	3.40.640.10, 1 hit
InterProⁱ	View protein in InterPro IPR002129 PyrdxlP-dep_de-COase IPR015424 PyrdxlP-dep_Trfase IPR015421 PyrdxlP-dep_Trfase_major IPR021115 Pyridoxal-P_BS
Pfamⁱ	View protein in Pfam PF00282 Pyridoxal_deC, 1 hit
SUPFAMⁱ	SSF53383 SSF53383, 1 hit
PROSITEⁱ	View protein in PROSITE PS00392 DDC_GAD_HDC_YDC, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	DCE1_HUMAN
Accessionⁱ	Q99259Primary (citable) accession number: Q99259 Secondary accession number(s): Q49AK1 , Q53TQ7, Q9BU91, Q9UHH4
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
	Last sequence update:	February 1, 1996
	Last modified:	September 12, 2018
	This is version 183 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - Q99259 (DCE1_HUMAN)

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Glutamate decarboxylase 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma Membrane

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ