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

Summary

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 carboxy-lyase activity. Predicted to be involved in carboxylic acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.1-p23

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (30726197..30894661, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (30728666..30897141, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (30767689..30936153, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 4.1.1.11

EC 4.1.1.29

XP_016861786.1

EC 4.1.1.11

EC 4.1.1.29

XP_047304027.1

EC 4.1.1.11

EC 4.1.1.29

XP_054202397.1

EC 4.1.1.11

EC 4.1.1.29

XP_054202398.1

EC 4.1.1.11

EC 4.1.1.29

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

30726197..30894661 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006297.2 → XP_016861786.1 acidic amino acid decarboxylase GADL1 isoform X1
XM_047448071.1 → XP_047304027.1 acidic amino acid decarboxylase GADL1 isoform X2

Related

ENSP00000427059.1, ENST00000454381.3

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

30728666..30897141 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346422.1 → XP_054202397.1 acidic amino acid decarboxylase GADL1 isoform X1
XM_054346423.1 → XP_054202398.1 acidic amino acid decarboxylase GADL1 isoform X2