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UniProtKB - Q99259 (DCE1_HUMAN)

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Protein

Glutamate decarboxylase 1

Gene

GAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the production of GABA.

Catalytic activityi

L-glutamate = 4-aminobutanoate + CO2.

Cofactori

pyridoxal 5'-phosphate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei567Substrate1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • gamma-aminobutyric acid biosynthetic process Source: Ensembl
  • glutamate catabolic process Source: UniProtKB
  • glutamate decarboxylation to succinate Source: ProtInc
  • locomotory exploration behavior Source: Ensembl
  • protein-pyridoxal-5-phosphate linkage Source: UniProtKB
  • response to drug Source: Ensembl
  • social behavior Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDecarboxylase, Lyase
Biological processNeurotransmitter biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS05215-MONOMER
BRENDAi4.1.1.15 2681
ReactomeiR-HSA-888568 GABA synthesis
R-HSA-888590 GABA synthesis, release, reuptake and degradation
SIGNORiQ99259

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000128683.13
HGNCiHGNC:4092 GAD1
MIMi605363 gene
neXtProtiNX_Q99259

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
See also OMIM:603513
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03102112S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2571
MalaCardsiGAD1
MIMi603513 phenotype
OpenTargetsiENSG00000128683
Orphaneti210141 Inherited congenital spastic tetraplegia
PharmGKBiPA28507

Chemistry databases

ChEMBLiCHEMBL2614
DrugBankiDB00142 L-Glutamic Acid
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiGAD1
DMDMi1352213

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001469631 – 594Glutamate decarboxylase 1Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei78PhosphoserineBy similarity1
Modified residuei405N6-(pyridoxal phosphate)lysine1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99259
PaxDbiQ99259
PeptideAtlasiQ99259
PRIDEiQ99259
ProteomicsDBi78255
78256 [Q99259-3]

PTM databases

iPTMnetiQ99259
PhosphoSitePlusiQ99259

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

BgeeiENSG00000128683
CleanExiHS_GAD1
ExpressionAtlasiQ99259 baseline and differential
GenevisibleiQ99259 HS

Organism-specific databases

HPAiCAB004415
CAB078176
HPA031949
HPA058412

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108845, 11 interactors
ComplexPortaliCPX-3032 Glutamate decarboxylase 1 complex
CPX-3065 Glutamate decarboxylase 1/2 complex
DIPiDIP-29292N
IntActiQ99259, 11 interactors
MINTiQ99259
STRINGi9606.ENSP00000350928

Structurei

Secondary structure

1594
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni94 – 97Combined sources4
Helixi100 – 102Combined sources3
Helixi110 – 131Combined sources22
Helixi144 – 149Combined sources6
Helixi165 – 177Combined sources13
Beta strandi187 – 192Combined sources6
Helixi197 – 209Combined sources13
Beta strandi212 – 214Combined sources3
Turni216 – 218Combined sources3
Helixi220 – 237Combined sources18
Beta strandi241 – 243Combined sources3
Beta strandi245 – 251Combined sources7
Helixi252 – 267Combined sources16
Helixi270 – 274Combined sources5
Helixi276 – 278Combined sources3
Beta strandi282 – 287Combined sources6
Helixi293 – 300Combined sources8
Helixi305 – 307Combined sources3
Beta strandi308 – 311Combined sources4
Helixi321 – 333Combined sources13
Beta strandi337 – 346Combined sources10
Beta strandi348 – 350Combined sources3
Helixi356 – 366Combined sources11
Beta strandi369 – 374Combined sources6
Helixi377 – 382Combined sources6
Turni384 – 386Combined sources3
Helixi387 – 390Combined sources4
Helixi393 – 395Combined sources3
Beta strandi397 – 401Combined sources5
Beta strandi414 – 420Combined sources7
Helixi423 – 428Combined sources6
Turni433 – 435Combined sources3
Helixi444 – 446Combined sources3
Helixi449 – 451Combined sources3
Helixi461 – 495Combined sources35
Beta strandi500 – 506Combined sources7
Beta strandi509 – 511Combined sources3
Beta strandi513 – 517Combined sources5
Helixi520 – 522Combined sources3
Helixi529 – 549Combined sources21
Beta strandi553 – 559Combined sources7
Beta strandi562 – 568Combined sources7
Helixi577 – 591Combined sources15

3D structure databases

ProteinModelPortaliQ99259
SMRiQ99259
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99259

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni190 – 192Substrate binding3

Sequence similaritiesi

Belongs to the group II decarboxylase family.Curated

Phylogenomic databases

eggNOGiKOG0629 Eukaryota
COG0076 LUCA
GeneTreeiENSGT00760000119205
HOGENOMiHOG000005382
HOVERGENiHBG004980
InParanoidiQ99259
KOiK01580
OMAiFHKHFFQ
OrthoDBiEOG091G07ZU
PhylomeDBiQ99259
TreeFamiTF314688

Family and domain databases

Gene3Di3.40.640.10, 1 hit
InterProiView protein in InterPro
IPR002129 PyrdxlP-dep_de-COase
IPR015424 PyrdxlP-dep_Trfase
IPR015421 PyrdxlP-dep_Trfase_major
IPR021115 Pyridoxal-P_BS
PfamiView protein in Pfam
PF00282 Pyridoxal_deC, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
PROSITEiView 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. AlignAdd to basket

Isoform 1 (identifier: Q99259-1) [UniParc]FASTAAdd 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]FASTAAdd 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.

Note: Lacks enzymatic activity.
Show »
Length:224
Mass (Da):25,279
Checksum:i2CDCB04ECD6BC2E9
GO
Isoform 4 (identifier: Q99259-4) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:425
Mass (Da):47,440
Checksum:iF392B68338CC6800
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9Missing in AAA35900 (Ref. 7) Curated1
Sequence conflicti16 – 17GA → EP in AAB59427 (PubMed:1339255).Curated2
Sequence conflicti16 – 17GA → EP in CAA80435 (PubMed:1339255).Curated2
Sequence conflicti17A → Q in AAA35900 (Ref. 7) Curated1
Sequence conflicti18D → N in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti31T → N in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti68K → R in AAA62368 (PubMed:8088791).Curated1
Sequence conflicti116F → L in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti136T → A in AAA35900 (Ref. 7) Curated1
Sequence conflicti140D → E in AAA35900 (Ref. 7) Curated1
Sequence conflicti142H → R in AAA35900 (Ref. 7) Curated1
Sequence conflicti155N → T in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti206T → N in AAB59427 (PubMed:1339255).Curated1
Sequence conflicti206T → N in CAA80435 (PubMed:1339255).Curated1
Sequence conflicti302G → C in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti436F → L in AAB26937 (PubMed:8507202).Curated1
Sequence conflicti477E → G in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti492A → G in AAB26938 (PubMed:8507203).Curated1
Sequence conflicti512N → S in AAB26937 (PubMed:8507202).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03102112S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar.1
Natural variantiVAR_018861228I → L1 PublicationCorresponds to variant dbSNP:rs45566933EnsemblClinVar.1
Natural variantiVAR_011882474V → G. Corresponds to variant dbSNP:rs769403Ensembl.1
Natural variantiVAR_011883532R → Q1 PublicationCorresponds to variant dbSNP:rs769402EnsemblClinVar.1
Natural variantiVAR_011884565F → L. Corresponds to variant dbSNP:rs1049736Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009123214 – 224FTYEIAPVFVL → PSDMRECWLLR in isoform 3. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_009124225 – 594Missing in isoform 3. 2 PublicationsAdd BLAST370
Alternative sequenceiVSP_054473374 – 425AAWGG…KGILQ → GFNFSQLANRIICLATELMT NKGCVTWHPNYSVNMHHGCL GRWAAHVQEAPP in isoform 4. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_054474426 – 594Missing in isoform 4. 1 PublicationAdd BLAST169

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
CCDSiCCDS2239.1 [Q99259-1]
CCDS2240.1 [Q99259-3]
PIRiB41935
S48135
S51775
S51776
RefSeqiNP_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]
UniGeneiHs.420036

Genome annotation databases

EnsembliENST00000344257; ENSP00000341167; ENSG00000128683 [Q99259-3]
ENST00000358196; ENSP00000350928; ENSG00000128683 [Q99259-1]
ENST00000375272; ENSP00000364421; ENSG00000128683 [Q99259-3]
ENST00000493875; ENSP00000434696; ENSG00000128683 [Q99259-4]
ENST00000625689; ENSP00000486612; ENSG00000128683 [Q99259-4]
GeneIDi2571
KEGGihsa:2571
UCSCiuc002ugh.4 human [Q99259-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDCE1_HUMAN
AccessioniPrimary (citable) accession number: Q99259
Secondary accession number(s): Q49AK1
, Q53TQ7, Q9BU91, Q9UHH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: July 18, 2018
This is version 182 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

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