ASPA - aspartoacylase Gene

Homo sapiens

Also known as ASP; ACY2

Gene ID: 443 | Gene type: protein coding

About ASPA

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,474,110-3,503,405 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in kidney (RPKM 9.3), brain (RPKM 5.6) and 19 other tissues.

Summary

This gene encodes an Enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in Other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

ASPA Products(2)

mRNA	Protein	Name
NM_000049.4	NP_000040.1	aspartoacylase
NM_001128085.1	NP_001121557.1	aspartoacylase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables aspartoacylase activity	IDA IDA: Inferred from direct assay	8252036	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22284616	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

ASPA Protein Structure

AstE_AspA

0
100
200
313 a.a.

Protein Preferred Names

Protein Names

aspartoacylase

ACY-2

ASPA Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ASPA	P45381	DUSP29	Homo sapiens	Q68J44	Y2H Array	32296183
Intra	ASPA	P45381	DUSP29	Homo sapiens	Q68J44	Y2H Prey Pooling	32296183
Intra	ASPA	P45381	DUSP29	Homo sapiens	Q68J44	Validated Y2H	32296183
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Validated Y2H	25910212
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Y2H Prey Pooling	25416956
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Y2H Array	25910212
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Validated Y2H	25416956
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Y2H Prey Pooling	32296183
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Validated Y2H	32296183
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Y2H Bait-Prey Pool	25910212
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	Y2H Array	32296183
Intra	ASPA	P45381	ACY3	Homo sapiens	Q96HD9	SLC	25910212
Intra	ASPA	P45381	KEAP1	Homo sapiens	Q14145	Validated Y2H	25910212
Intra	ASPA	P45381	KEAP1	Homo sapiens	Q14145	Y2H Bait-Prey Pool	25910212
Intra	ASPA	P45381	ASPA	Homo sapiens	P45381	Y2H Pooling	16189514
Intra	ASPA	P45381	KEAP1	Homo sapiens	Q14145	SLC	25910212
Intra	ASPA	P45381	KEAP1	Homo sapiens	Q14145	Y2H Array	25910212
Intra	ASPA	P45381	ASPA	Homo sapiens	P45381	X-Ray Diffraction	17194761

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Leukodystrophy

Leukodystrophies

Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral	Agc1 Deficiency
Epileptic Encephalopathy, Early Infantile, 39	DEE39
Eiee39	Aspartate-Glutamate Carrier 1 Deficiency
Epileptic Encephalopathy With Global Cerebral Demyelination	Developmental And Epileptic Encephalopathy, 39
Early Infantile Epileptic Encephalopathy 39	Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency
Global Cerebral Hypomyelination	Hereditary Central Nervous System Demyelinating Diseases

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Developmental And Epileptic Encephalopathy 24

DEE24	Epileptic Encephalopathy, Early Infantile, 24
Eiee24	Developmental And Epileptic Encephalopathy, 24
Early Infantile Epileptic Encephalopathy 24	Encephalopathy, Epileptic, Early Infantile, Type 24

Mucinous Ovarian Cystadenoma

Mucinous Cystadenoma Of Ovary

Ovarian Mucinous Cystadenoma

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B	Acid Sphingomyelinase Deficiency, Visceral Type
Asmd, Visceral Type	Niemann Pick Disease Type B
Chronic Visceral Acid Sphingomyelinase Deficiency	Chronic Visceral Asmd
Npd-B	Niemann-Pick Disease B
NPDB	Niemann-Pick Disease Adult Non-Neuronopathic Form
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression	Niemann-Pick Disease Type E
Niemann-Pick Disease Type F	Niemann-Pick Disease Type I
Niemann-Pick Disease Visceral Form	Npb
Sphingomyelinase Deficiency	Sphingomyelin Lipidosis
Niemann-Picks Disease Type B	Niemann-Pick Disease, Type E
Niemann-Pick Diseases	Niemann-Pick Disease, Type A

Hypotonia

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Leukodystrophy, Hypomyelinating, 2

Pmld1	Hypomyelinating Leukodystrophy 2
HLD2	Pelizaeus-Merzbacher-Like Disease 1
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation	Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-Like Disease, 1	Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease	Pmld - Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1	Pmldar1
Leukodystrophy, Hypomyelinating, Type 2

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148089	Eplontersen	Inhibitor	/	Unkown

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6246	Asperulosidic Acid	Inhibitor	99.72%	Unkown
HY-RS01099	ASPA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca fascicularis	ASPA	NCBI	NCBI:102137549
Mus musculus	ASPA	NCBI	NCBI:11484
Susscrofa domestica	ASPA	NCBI
Rattus norvegicus	ASPA	NCBI	NCBI:79251

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