GADL1

GADL1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2JIS
Identifiers
Aliases	GADL1, ADC, CSADC, HuADC, HuCSADC, glutamate decarboxylase like 1
External IDs	OMIM: 615601; MGI: 1920998; HomoloGene: 45812; GeneCards: GADL1; OMA:GADL1 - orthologs
EC number	4.1.1.29
Gene location (Human)
Chr.	Chromosome 3 (human)
End	30,894,661 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	116,076,176 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; germinal epithelium; ; muscle of thigh; ; deltoid muscle; ; Skeletal muscle tissue of rectus abdominis; ; gastrocnemius muscle; ; gastric mucosa; ; vastus lateralis muscle; ; biceps brachii; ; Descending thoracic aorta;
	Top expressed in
	olfactory epithelium; ; lumbar spinal ganglion; ; knee joint; ; vastus lateralis muscle; ; soleus muscle; ; triceps brachii muscle; ; medial head of gastrocnemius muscle; ; skeletal muscle tissue; ; skin of external ear; ; spermatid;
	More reference expression data
	n/a
Gene ontology
Molecular function	sulfinoalanine decarboxylase activity; pyridoxal phosphate binding; catalytic activity; carboxy-lyase activity; aspartate 1-decarboxylase activity; lyase activity;
Cellular component	cytosol;
Biological process	cellular amino acid biosynthetic process; carboxylic acid metabolic process; sulfur amino acid catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	339896
	73748
	ENSG00000144644
	ENSMUSG00000056880
	Q6ZQY3
	Q80WP8
	NM_207359
	NM_028638
	NP_997242
	NP_082914; NP_001382689
	Wikidata
View/Edit Human	View/Edit Mouse

Glutamate decarboxylase like 1 (GADL1) is the enzyme responsible for decarboxylating aspartate (Asp) to β-alanine and cysteine sulfinic acid (CSA) to hypotaurine.^[5] GADL1 is a Pyridoxal 5’-phosphate (PLP)-dependent enzyme. By decarboxylating Asp to β-alanine, GADL1 consequently plays a role in the production of carnosine.^[6] Carnosine and taurine have multiple biological functions such as calcium regulation, pH buffering, metal chelation, and antioxidant effects. β-Alanine also plays a role as neurotransmitter or neuromodulator in the central nervous system (CNS) and olfactory bulbs.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000144644 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000056880 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Liu P, Ge X, Ding H, Jiang H, Christensen BM, Li J (November 2012). "Role of glutamate decarboxylase-like protein 1 (GADL1) in taurine biosynthesis". The Journal of Biological Chemistry. 287 (49): 40898–906. doi:10.1074/jbc.M112.393728. PMC 3510794. PMID 23038267.
^ Mahootchi E, Cannon Homaei S, Kleppe R, Winge I, Hegvik TA, Megias-Perez R, et al. (July 2020). "GADL1 is a multifunctional decarboxylase with tissue-specific roles in β-alanine and carnosine production". Science Advances. 6 (29): eabb3713. Bibcode:2020SciA....6.3713M. doi:10.1126/sciadv.abb3713. PMC 7367687. PMID 32733999.
^ Boldyrev AA, Aldini G, Derave W (October 2013). "Physiology and pathophysiology of carnosine". Physiological Reviews. 93 (4): 1803–45. doi:10.1152/physrev.00039.2012. PMID 24137022.