• Gene id: 443

Gene Summary

• Gene Symbol: ASPA   Gene   UCSC   Ensembl
• Aliases: ACY2, ASP
• Gene name: aspartoacylase
• Alternate names: aspartoacylase, ACY-2, aminoacylase 2,
• Gene location: 17p13.2 (167936238: 168075842)     Exons: 26     NC_000001.11
• Gene summary(Entrez): 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 scavenge
• OMIM: 608034

SNPs

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs9461718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760045A>C
NC_000006.12   g.31760045A>G
NC_000006.11   g.31727822A>C
NC_000006.11   g.31727822A>G
NG_011611.1   g.25049A>C
NG_011611.1   g.25049A>G
NT_113891.3   g.3237302A>C
NT_113891.3   g.3237302A>G
NT_113891.2   g.3237408A>C
NT_113891.2   g.3237408

rs3117572

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31749915A>C
NC_000006.12   g.31749915A>G
NC_000006.11   g.31717692A>C
NC_000006.11   g.31717692A>G
NG_011611.1   g.14919A>C
NG_011611.1   g.14919A>G
NT_113891.3   g.3227176G>A
NT_113891.3   g.3227176G>C
NT_113891.2   g.3227282G>A
NT_113891.2   g.3227282

rs3115672

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760120C>T
NC_000006.11   g.31727897C>T
NG_011611.1   g.25124C>T
NM_025259.5   c.1767C>T
NM_002441.4   c.1716C>T
NM_172165.3   c.1716C>T
NM_172166.3   c.1716C>T
NT_113891.3   g.3237377T>C
NT_113891.2   g.3237483T>C
NT_167245.2   g.3007894C>T
NT_167245.  

rs2299850

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31750258C>T
NC_000006.11   g.31718035C>T
NG_011611.1   g.15262C>T
NT_113891.3   g.3227519C>T
NT_113891.2   g.3227625C>T
NT_167245.2   g.2998029C>T
NT_167245.1   g.3003614C>T
NT_167247.2   g.3092140C>T
NT_167247.1   g.3097725C>T
NT_167248.2   g.3006081C>

rs2075789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31740551C>T
NC_000006.11   g.31708328C>T
NG_011611.1   g.5555C>T
NM_025259.5   c.85C>T
NM_002441.4   c.85C>T
NM_172166.4   c.85C>T
NM_172166.3   c.85C>T
NM_172165.3   c.85C>T
NT_113891.3   g.3217831C>T
NT_113891.2   g.3217937C>T
NT_167245.2   g.2988317C>T

rs26279

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.80873118G>A
NC_000005.9   g.80168937G>A
NG_016607.2   g.223644G>A
NG_016607.1   g.223644G>A
NM_002439.5   c.3133G>A
NM_002439.4   c.3133G>A
NP_002430.3   p.Ala1045Thr|SEQ=[G/A]|GENE=MSH3

Protein Summary

• Protein general information: P45381  
  • Name: Aspartoacylase (EC 3.5.1.15) (Aminoacylase 2) (ACY 2)
  • Length: 313  
  • Mass: 35735
  • Tissue specificity: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.
• Sequence:

  MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLNRIFDL
  ENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPL
  PCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKI
  IEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
  LTLNAKSIRCCLH

• Structural information:
  • Interpro: IPR016708  IPR007036  
  • PDB: 2I3C 2O4H 2O53 2Q51 4MRI 4MXU 4NFR 4TNU
  • PDBsum: 2I3C 2O4H 2O53 2Q51 4MRI 4MXU 4NFR 4TNU
  • DIP: 60793
  • STRING: ENSP00000263080
• Other Databases: GeneCards:  ASPA  Malacards:  ASPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004046	aminoacylase activity	TAS	molecular function
GO:0006533	aspartate catabolic process	TAS	biological process
GO:0019807	aspartoacylase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0022010	central nervous system myelination	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Canavan disease	KEGG:H00074
Canavan disease	KEGG:H00074
Canavan disease	PMID:8252036
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq