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UniProtKB - Q99259 (DCE1_HUMAN)

Entry version 190 (18 Sep 2019)
Sequence version 1 (01 Feb 1996)
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Protein

Glutamate decarboxylase 1

Gene

GAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Catalyzes the production of GABA.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

pyridoxal 5'-phosphate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei567Substrate1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDecarboxylase, Lyase
Biological processNeurotransmitter biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05215-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		4.1.1.15 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-888568 GABA synthesis
R-HSA-888590 GABA synthesis, release, reuptake and degradation
R-HSA-9022927 MECP2 regulates transcription of genes involved in GABA signaling

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99259

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GAD1
Synonyms:GAD, GAD67
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4092 GAD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605363 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99259

<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

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

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03102112S → C in CPSQ1. 1 PublicationCorresponds to variant dbSNP:rs121918345EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2571

MalaCards human disease database

More...MalaCardsi		GAD1
MIMi603513 phenotype

Open Targets

More...OpenTargetsi		ENSG00000128683

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		210141 Inherited congenital spastic tetraplegia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28507

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2614

Drug and drug target database

More...DrugBanki		DB00142 Glutamic Acid
DB00114 Pyridoxal phosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GAD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1352213

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001469631 – 594Glutamate decarboxylase 1Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei78PhosphoserineBy similarity1
Modified residuei405N6-(pyridoxal phosphate)lysine1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q99259

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q99259

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q99259

PeptideAtlas

More...PeptideAtlasi		Q99259

PRoteomics IDEntifications database

More...PRIDEi		Q99259

ProteomicsDB human proteome resource

More...ProteomicsDBi		62052
78255 [Q99259-1]
78256 [Q99259-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99259

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q99259

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000128683 Expressed in 150 organ(s), highest expression level in middle temporal gyrus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99259 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99259 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB004415
CAB078176
HPA031949
HPA058412

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108845, 17 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3032 Glutamate decarboxylase 1 complex
CPX-3065 Glutamate decarboxylase 1/2 complex

Database of interacting proteins

More...DIPi		DIP-29292N

Protein interaction database and analysis system

More...IntActi		Q99259, 11 interactors

Molecular INTeraction database

More...MINTi		Q99259

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000350928

<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

1594
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q99259

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q99259

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni190 – 192Substrate binding3

<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

Belongs to the group II decarboxylase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0629 Eukaryota
COG0076 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155526

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000005382

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99259

KEGG Orthology (KO)

More...KOi		K01580

Identification of Orthologs from Complete Genome Data

More...OMAi		FHKHFFQ

Database of Orthologous Groups

More...OrthoDBi		810772at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99259

TreeFam database of animal gene trees

More...TreeFami		TF314688

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.640.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53383 SSF53383, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00392 DDC_GAD_HDC_YDC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q99259-1) [UniParc]FASTAAdd to basket
Also known as: GAD67

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WD43F8WD43_HUMAN
Glutamate decarboxylase 1
GAD1
233Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JN45C9JN45_HUMAN
Glutamate decarboxylase 1
GAD1
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J6C9C9J6C9_HUMAN
Glutamate decarboxylase 1
GAD1
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JT43C9JT43_HUMAN
Glutamate decarboxylase 1
GAD1
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JLZ7C9JLZ7_HUMAN
Glutamate decarboxylase 1
GAD1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQR2U3KQR2_HUMAN
Glutamate decarboxylase 1
GAD1
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Protein sequence database of the Protein Information Resource

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2571

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2571

UCSC genome browser

More...UCSCi		uc002ugh.4 human [Q99259-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
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]

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 entryMethodResolution (Å)ChainPositionsPDBsum
2OKJX-ray2.30A/B93-594[»]
3VP6X-ray2.10A/B90-594[»]
SMRiQ99259
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108845, 17 interactors
ComplexPortaliCPX-3032 Glutamate decarboxylase 1 complex
CPX-3065 Glutamate decarboxylase 1/2 complex
DIPiDIP-29292N
IntActiQ99259, 11 interactors
MINTiQ99259
STRINGi9606.ENSP00000350928

Chemistry databases

ChEMBLiCHEMBL2614
DrugBankiDB00142 Glutamic Acid
DB00114 Pyridoxal phosphate

PTM databases

iPTMnetiQ99259
PhosphoSitePlusiQ99259

Polymorphism and mutation databases

BioMutaiGAD1
DMDMi1352213

Proteomic databases

EPDiQ99259
MassIVEiQ99259
PaxDbiQ99259
PeptideAtlasiQ99259
PRIDEiQ99259
ProteomicsDBi62052
78255 [Q99259-1]
78256 [Q99259-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2571
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2571
DisGeNETi2571

GeneCards: human genes, protein and diseases

More...GeneCardsi		GAD1
HGNCiHGNC:4092 GAD1
HPAiCAB004415
CAB078176
HPA031949
HPA058412
MalaCardsiGAD1
MIMi603513 phenotype
605363 gene
neXtProtiNX_Q99259
OpenTargetsiENSG00000128683
Orphaneti210141 Inherited congenital spastic tetraplegia
PharmGKBiPA28507

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0629 Eukaryota
COG0076 LUCA
GeneTreeiENSGT00940000155526
HOGENOMiHOG000005382
InParanoidiQ99259
KOiK01580
OMAiFHKHFFQ
OrthoDBi810772at2759
PhylomeDBiQ99259
TreeFamiTF314688

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
R-HSA-9022927 MECP2 regulates transcription of genes involved in GABA signaling
SIGNORiQ99259

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GAD1 human
EvolutionaryTraceiQ99259

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2571

Pharos

More...Pharosi		Q99259

Protein Ontology

More...PROi		PR:Q99259

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000128683 Expressed in 150 organ(s), highest expression level in middle temporal gyrus
ExpressionAtlasiQ99259 baseline and differential
GenevisibleiQ99259 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDCE1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99259
Secondary accession number(s): Q49AK1
, Q53TQ7, Q9BU91, Q9UHH4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 18, 2019
This is version 190 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

3D-structure, Complete proteome, Reference proteome

Documents

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