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GADL1 glutamate decarboxylase like 1 [ Homo sapiens (human) ]

Gene ID: 339896, updated on 5-Mar-2024

Summary

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Official Symbol
GADL1provided by HGNC
Official Full Name
glutamate decarboxylase like 1provided by HGNC
Primary source
HGNC:HGNC:27949
See related
Ensembl:ENSG00000144644 MIM:615601; AllianceGenome:HGNC:27949
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADC; CSADC; HuADC; HuCSADC
Summary
Predicted to enable aspartate 1-decarboxylase activity; pyridoxal phosphate binding activity; and sulfinoalanine decarboxylase activity. Predicted to be involved in carboxylic acid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
3p24.1-p23
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (30726197..30894661, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (30728666..30897141, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30767689..30936153, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14158 Neighboring gene transforming growth factor beta receptor 2 Neighboring gene KLHL25 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69439 Neighboring gene formin binding protein 1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30949959-30950520 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:31037859-31038360 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:31068205-31068399 Neighboring gene MPRA-validated peak4584 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:31137307-31137898 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31167054-31167555 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31183687-31184252 Neighboring gene microRNA 466 Neighboring gene calponin 2 pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Effects of GADL1 overexpression on cell migration and the associated morphological changes. Wu TN, et al. Sci Rep, 2019 Mar 28. PMID 30923325, Free PMC Article
  2. Lithium response in bipolar disorder: No difference in GADL1 gene expression between cell lines from excellent-responders and non-responders. Moreira J, et al. Psychiatry Res, 2017 May. PMID 28214779
  3. GADL1 gene polymorphisms and lithium response in bipolar I disorder: lack of association from an Indian population. Kotambail A, et al. Psychiatr Genet, 2015 Feb. PMID 25415457
  4. Variant GADL1 and response to lithium therapy in bipolar I disorder. Chen CH, et al. N Engl J Med, 2014 Jan 9. PMID 24369049
  5. Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression. Winge I, et al. Neurochem Int, 2015 Nov. PMID 26327310

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effects of GADL1 overexpression on cell migration and the associated morphological changes.
    Title: Effects of GADL1 overexpression on cell migration and the associated morphological changes.
  2. No difference in GADL1 expression was observed among lymphoblastoid cells from excellent-responders, non-responders or controls. Furthermore, lithium did not induce significant changes in GADL1 expression levels after 4 or 8 days. These results did not support an association of GADL1 expression in the determination of a lithium response in BD patients.
    Title: Lithium response in bipolar disorder: No difference in GADL1 gene expression between cell lines from excellent-responders and non-responders.
  3. taurine biosynthesis in vertebrates involves two structurally related PLP-dependent decarboxylases (cysteine sulfinic acid decarboxylase and glutamic acid decarboxylase like 1)
    Title: Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression.
  4. The study did not identify a major relationship between the GADL1 polymorphisms and lithium response in an Indian population.
    Title: GADL1 gene polymorphisms and lithium response in bipolar I disorder: lack of association from an Indian population.
  5. Genetic variations in GADL1 are associated with the response to lithium maintenance treatment for bipolar I disorder in patients of Han Chinese descent.
    Title: Variant GADL1 and response to lithium therapy in bipolar I disorder.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartate 1-decarboxylase activity IEA
Inferred from Electronic Annotation
more info
  
enables carboxy-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
enables sulfinoalanine decarboxylase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
acidic amino acid decarboxylase GADL1
Names
aspartate 1-decarboxylase
cysteine sulfinic acid decarboxylase
glutamate decarboxylase-like protein 1
NP_997242.2
XP_016861786.1
XP_047304027.1
XP_054202397.1
XP_054202398.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_207359.3 → NP_997242.2  acidic amino acid decarboxylase GADL1

    See identical proteins and their annotated locations for NP_997242.2

    Status: VALIDATED

    Source sequence(s)
    AC096921, AC138391, AK128643, AL832766, BC093701
    Consensus CDS
    CCDS2649.2
    UniProtKB/Swiss-Prot
    Q6ZQY3
    Related
    ENSP00000282538.5, ENST00000282538.10
    Conserved Domains (1) summary
    cl18945
    Location:77 → 445
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    30726197..30894661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006297.2 → XP_016861786.1  acidic amino acid decarboxylase GADL1 isoform X1

  2. XM_047448071.1 → XP_047304027.1  acidic amino acid decarboxylase GADL1 isoform X2

    Related
    ENSP00000427059.1, ENST00000454381.3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    30728666..30897141 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346422.1 → XP_054202397.1  acidic amino acid decarboxylase GADL1 isoform X1

  2. XM_054346423.1 → XP_054202398.1  acidic amino acid decarboxylase GADL1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZQY3.4 GenPept UniProtKB/Swiss-Prot:Q6ZQY3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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