Aliases for GADL1 Gene

Aliases for GADL1 Gene

  • Glutamate Decarboxylase Like 1 2 3 5
  • Glutamate Decarboxylase-Like Protein 1 3 4
  • Acidic Amino Acid Decarboxylase GADL1 3 4
  • Cysteine Sulfinic Acid Decarboxylase 3 4
  • Aspartate 1-Decarboxylase 3 4
  • EC 4.1.1.29 4 50
  • HuCSADC 3 4
  • CSADC 3 4
  • HuADC 3 4
  • ADC 3 4
  • Glutamate Decarboxylase-Like 1 2
  • EC 4.1.1.15 50
  • EC 4.1.1.11 4
  • EC 4.1.1 50
  • GADL1 5

External Ids for GADL1 Gene

Summaries for GADL1 Gene

GeneCards Summary for GADL1 Gene

GADL1 (Glutamate Decarboxylase Like 1) is a Protein Coding gene. Diseases associated with GADL1 include Bainbridge-Ropers Syndrome and Bipolar I Disorder. Among its related pathways are Pantothenate and CoA biosynthesis and Amino acid synthesis and interconversion (transamination). Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and sulfinoalanine decarboxylase activity. An important paralog of this gene is CSAD.

UniProtKB/Swiss-Prot Summary for GADL1 Gene

  • May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GADL1 Gene

Genomics for GADL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GADL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J030894 Promoter 1.1 EPDnew Ensembl 250.7 +0.2 164 1.6 FEZF1 PRDM6 CBX2 CTCF GLIS1 EZH2 CBX8 PATZ1 ZBTB17 GLIS2 GADL1 piR-37379-002 TGFBR2
GH03J031003 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 250.1 -109.8 -109776 2.4 ZNF274 JUND IKZF1 GATA2 PKNOX1 SPI1 IKZF2 EP300 GADL1 STT3B HSALNG0024932 lnc-GADL1-5 lnc-GADL1-7
GH03J030896 Enhancer 0.3 Ensembl 250.7 -1.2 -1236 0.4 PRDM10 POLR2A GADL1 piR-56341-146 STT3B
GH03J030719 Enhancer 1 Ensembl ENCODE 9.9 +173.4 173434 3 CEBPA ATF3 YY1 CEBPB FOXA1 HOMEZ EP300 FOXA2 CTBP1 PRDM1 HSALNG0024928 GADL1 LOC105377017 TGFBR2
GH03J030679 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 +209.6 209581 17.6 ZNF654 SSRP1 ZNF580 CEBPA BRCA1 YY1 CTCF TRIM22 FEZF1 HOMEZ GADL1 TGFBR2 ENSG00000261468 lnc-GADL1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GADL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GADL1

Top Transcription factor binding sites by QIAGEN in the GADL1 gene promoter:
  • AML1a
  • Brachyury
  • CUTL1
  • FOXO1
  • FOXO1a
  • HTF
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for GADL1 Gene

Latest Assembly
chr3:30,726,009-30,894,765
(GRCh38/hg38)
Size:
168,757 bases
Orientation:
Minus strand

Previous Assembly
chr3:30,767,692-30,936,153
(GRCh37/hg19 by Entrez Gene)
Size:
168,462 bases
Orientation:
Minus strand

chr3:30,767,692-30,936,257
(GRCh37/hg19 by Ensembl)
Size:
168,566 bases
Orientation:
Minus strand

Genomic View for GADL1 Gene

Genes around GADL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GADL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GADL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GADL1 Gene

Proteins for GADL1 Gene

  • Protein details for GADL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZQY3-GADL1_HUMAN
    Recommended name:
    Acidic amino acid decarboxylase GADL1
    Protein Accession:
    Q6ZQY3

    Protein attributes for GADL1 Gene

    Size:
    521 amino acids
    Molecular mass:
    59246 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH93701.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI11987.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC87546.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GADL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GADL1 Gene

Selected DME Specific Peptides for GADL1 Gene

Q6ZQY3:
  • YDTGDKSIQCSRR
  • GTTVLGAFD
  • SYDTGDK
  • VISPQVSREDMDF
  • HPRFFNQL
  • YLFQQDK
  • EIADICE
  • RADSVAWNPHK

Post-translational modifications for GADL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GADL1 Gene

Domains & Families for GADL1 Gene

Gene Families for GADL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GADL1 Gene

GenScript: Design optimal peptide antigens:
  • Glutamate decarboxylase-like protein 1 (GADL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZQY3

UniProtKB/Swiss-Prot:

GADL1_HUMAN :
  • Belongs to the group II decarboxylase family.
Family:
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with GADL1: view

Function for GADL1 Gene

Molecular function for GADL1 Gene

UniProtKB/Swiss-Prot Function:
May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-aspartate = beta-alanine + CO2; Xref=Rhea:RHEA:19497, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:29991, ChEBI:CHEBI:57966; EC=4.1.1.11; Evidence={ECO:0000269|PubMed:23038267};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-sulfino-L-alanine + H(+) = CO2 + hypotaurine; Xref=Rhea:RHEA:16877, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57853, ChEBI:CHEBI:61085; EC=4.1.1.29; Evidence={ECO:0000269|PubMed:23038267};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-cysteate = CO2 + taurine; Xref=Rhea:RHEA:25221, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:58090, ChEBI:CHEBI:507393; EC=4.1.1.29; Evidence={ECO:0000250|UniProtKB:Q80WP8};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.72 mM for L-aspartate {ECO:0000269|PubMed:23038267}; KM=1.14 mM for 3-sulfino-L-alanine (cysteine sulfinic acid) {ECO:0000269|PubMed:23038267}; Vmax=1.56 umol/min/mg enzyme toward L-aspartate {ECO:0000269|PubMed:23038267}; Vmax=2.31 umol/min/mg enzyme toward 3-sulfino-L-alanine (cysteine sulfinic acid) {ECO:0000269|PubMed:23038267};

Enzyme Numbers (IUBMB) for GADL1 Gene

Phenotypes From GWAS Catalog for GADL1 Gene

Gene Ontology (GO) - Molecular Function for GADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004068 aspartate 1-decarboxylase activity IEA --
GO:0004782 sulfinoalanine decarboxylase activity IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with GADL1: view
genes like me logo Genes that share phenotypes with GADL1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GADL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GADL1 Gene

Localization for GADL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GADL1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GADL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GADL1 Gene

Pathways & Interactions for GADL1 Gene

genes like me logo Genes that share pathways with GADL1: view

Interacting Proteins for GADL1 Gene

Gene Ontology (GO) - Biological Process for GADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000098 sulfur amino acid catabolic process TAS --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0019752 carboxylic acid metabolic process IEA --
genes like me logo Genes that share ontologies with GADL1: view

No data available for SIGNOR curated interactions for GADL1 Gene

Drugs & Compounds for GADL1 Gene

(1) Drugs for GADL1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
genes like me logo Genes that share compounds with GADL1: view

Transcripts for GADL1 Gene

mRNA/cDNA for GADL1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GADL1

Alternative Splicing Database (ASD) splice patterns (SP) for GADL1 Gene

No ASD Table

Relevant External Links for GADL1 Gene

GeneLoc Exon Structure for
GADL1

Expression for GADL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GADL1 Gene

mRNA differential expression in normal tissues according to GTEx for GADL1 Gene

This gene is overexpressed in Muscle - Skeletal (x21.0), Esophagus - Gastroesophageal Junction (x13.7), and Esophagus - Muscularis (x8.5).

Protein differential expression in normal tissues from HIPED for GADL1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GADL1 Gene



Protein tissue co-expression partners for GADL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GADL1

SOURCE GeneReport for Unigene cluster for GADL1 Gene:

Hs.657052

mRNA Expression by UniProt/SwissProt for GADL1 Gene:

Q6ZQY3-GADL1_HUMAN
Tissue specificity: Expressed very weakly in neurons and not detected in astrocytes, brain or liver.

Evidence on tissue expression from TISSUES for GADL1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with GADL1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GADL1 Gene

Orthologs for GADL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GADL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GADL1 29 30
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GADL1 29 30
  • 92.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GADL1 29 30
  • 88.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gadl1 29 16 30
  • 86.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gadl1 29
  • 82.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GADL1 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GADL1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GADL1 29 30
  • 80.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GADL1 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gadl1 29
  • 74.1 (n)
Str.2151 29
Zebrafish
(Danio rerio)
Actinopterygii zgc:163121 30
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008904 29
  • 56.63 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta b 29 30
  • 56.56 (n)
ManyToMany
CG5618 30
  • 46 (a)
ManyToMany
Species where no ortholog for GADL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GADL1 Gene

ENSEMBL:
Gene Tree for GADL1 (if available)
TreeFam:
Gene Tree for GADL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GADL1: view image
Alliance of Genome Resources:
Additional Orthologs for GADL1

Paralogs for GADL1 Gene

Paralogs for GADL1 Gene

(5) SIMAP similar genes for GADL1 Gene using alignment to 1 proteins:

  • GADL1_HUMAN

Pseudogenes.org Pseudogenes for GADL1 Gene

genes like me logo Genes that share paralogs with GADL1: view

Variants for GADL1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GADL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GADL1 Gene

Variant ID Type Subtype PubMed ID
esv2660444 CNV deletion 23128226
esv2663822 CNV deletion 23128226
esv2666210 CNV deletion 23128226
esv3568677 CNV loss 25503493
esv3595740 CNV loss 21293372
esv3595741 CNV loss 21293372
nsv1114366 CNV deletion 24896259
nsv1114367 CNV deletion 24896259
nsv1114368 CNV deletion 24896259
nsv441818 CNV loss 18776908
nsv460484 CNV gain 19166990
nsv476580 CNV novel sequence insertion 20440878
nsv477516 CNV novel sequence insertion 20440878
nsv514144 CNV loss 21397061
nsv515560 CNV loss 19592680
nsv522284 CNV loss 19592680
nsv522385 CNV loss 19592680
nsv590029 CNV loss 21841781
nsv590030 CNV gain 21841781
nsv7352 OTHER inversion 18451855

Variation tolerance for GADL1 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GADL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GADL1
Leiden Open Variation Database (LOVD)
GADL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GADL1 Gene

Disorders for GADL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GADL1 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
bainbridge-ropers syndrome
  • brps
bipolar i disorder
- elite association - COSMIC cancer census association via MalaCards
Search GADL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GADL1

genes like me logo Genes that share disorders with GADL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GADL1 Gene

Publications for GADL1 Gene

  1. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. (PMID: 26327310) Winge I … Haavik J (Neurochemistry international 2015) 3 4
  2. Effects of GADL1 overexpression on cell migration and the associated morphological changes. (PMID: 30923325) Wu TN … Cheng AT (Scientific reports 2019) 3
  3. Lithium response in bipolar disorder: No difference in GADL1 gene expression between cell lines from excellent-responders and non-responders. (PMID: 28214779) Moreira J … Marie-Claire C (Psychiatry research 2017) 3
  4. GADL1 gene polymorphisms and lithium response in bipolar I disorder: lack of association from an Indian population. (PMID: 25415457) Kotambail A … Satyamoorthy K (Psychiatric genetics 2015) 3
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3

Products for GADL1 Gene

Sources for GADL1 Gene