ASPA - aspartoacylase Gene

Also Known as ASP; ACY2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 443

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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

ASPA Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86773	ASPA Antibody (YA6466)	IHC-F, IHC-P, WB	Human, Mouse, Rat
HY-P86774	ASPA Antibody (YA6467)	WB, IHC-P, IHC-F	Human, Mouse, Rat

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
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-148089	Eplontersen	Inhibitor	98.70%	Unkown
HY-B1680	Lithium citrate		98.0%	Unkown

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-132579	Tominersen		96.32%	Phase 3

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-N6246	Asperulosidic Acid	Inhibitor	99.63%	Unkown
HY-RS01099	ASPA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17737	Aspa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24202	Aspa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown