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ACMSD - aminocarboxymuconate semialdehyde decarboxylase Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 130013

About ACMSD

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:134,838,616-134,902,034 (from NCBI)

This gene has 4 transcripts (splice variants) and 199 orthologues. Biased expression in kidney (RPKM 17.3), liver (RPKM 10.7) and 1 other tissue.

Summary

The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]

ACMSD Products (2)

mRNA	Protein	Name
NM_001307983.2	NP_001294912.1	2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2
NM_138326.3	NP_612199.2	2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables aminocarboxymuconate-semialdehyde decarboxylase activity	IDA IDA: Inferred from direct assay	17288562	GOA
enables aminocarboxymuconate-semialdehyde decarboxylase activity	IDA IDA: Inferred from direct assay	12140278	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	19843166	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of quinolinate biosynthetic process	IDA IDA: Inferred from direct assay	12140278	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	12140278	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACMSD Protein Structure

Amidohydro_2

0
100
200
300
336 a.a.

Protein Preferred Names	Protein Names
2-amino-3-carboxymuconate-6-semialdehyde decarboxylase	picolinate carboxylase

ACMSD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACMSD	Q8TDX5	MAGEA11	Homo sapiens	P43364-2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pellagra	Niacin Deficiency Niacin-Tryptophan Deficiency Pellagroid Syndrome
Hydroxykynureninuria	Xanthurenic Aciduria Kynureninase Deficiency Kynureninase Deficiency, Partial HYXKY Partial Kynureninase Deficiency
Epilepsy, Familial Adult Myoclonic, 2	FAME2 Benign Adult Familial Myoclonic Epilepsy 2 Bafme2 Fcmte2 Adcme Cortical Myoclonic Tremor With Epilepsy, Familial, 2 Cortical Myoclonus And Epilepsy, Autosomal Dominant Familial Adult Myoclonic Epilepsy 2 Epilepsy, Myoclonic, Benign Adult Familial, Type 2 Autosomal Dominant Cortical Myoclonus And Epilepsy Familial Cortical Myoclonic Tremor And Epilepsy 2 Epilepsy, Myoclonic, Familial Adult, Type 2
Epilepsy, Familial Adult Myoclonic, 5	FAME5 Fcmte5 Cortical Myoclonic Tremor With Epilepsy, Familial, 5 Familial Adult Myoclonic Epilepsy 5 Epilepsy, Myoclonic, Familial Adult, 5 Familial Cortical Myoclonic Tremor And Epilepsy 5 Familial Cortical Myoclonic Tremor With Epilepsy 5 Epilepsy, Myoclonic, Familial Adult, Type 5
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111365	TES-1025	Inhibitor	98.39%	Unkown
HY-112619	TES-991		99.65%	Unkown
HY-RS00169	ACMSD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18800	Acmsd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25289	Acmsd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ACMSD	MGD	MGI:2386323
Bos taurus	ACMSD	VGNC	VGNC:25544
Canis familiaris	ACMSD	VGNC	VGNC:37512
Felis catus	ACMSD	VGNC	VGNC:59514
Rattus norvegicus	ACMSD	RGD	RGD:620868
Macaca mulatta	ACMSD	VGNC	VGNC:69476