• Gene id: 327

Gene Summary

• Gene Symbol: APEH   Gene   UCSC   Ensembl
• Aliases: AARE, ACPH, APH, D3F15S2, D3S48E, DNF15S2, OPH
• Gene name: acylaminoacyl-peptide hydrolase
• Alternate names: acylamino-acid-releasing enzyme, N-acylaminoacyl-peptide hydrolase, acyl-peptide hydrolase, acylaminoacyl-peptidase, oxidized protein hydrolase,
• Gene location: 3p21.31 (47150519: 47107409)     Exons: 10     NC_000018.10
• Gene summary(Entrez): This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a f
• OMIM: 102645

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>

Protein Summary

• Protein general information: P13798  
  • Name: Acylamino acid releasing enzyme (AARE) (EC 3.4.19.1) (Acyl peptide hydrolase) (APH) (Acylaminoacyl peptidase) (Oxidized protein hydrolase) (OPH)
  • Length: 732  
  • Mass: 81225
• Sequence:

  MERQVLLSEPEEAAALYRGLSRQPALSAACLGPEVTTQYGGQYRTVHTEWTQRDLERMENIRFCRQYLVFHDGDS
  VVFAGPAGNSVETRGELLSRESPSGTMKAVLRKAGGTGPGEEKQFLEVWEKNRKLKSFNLSALEKHGPVYEDDCF
  GCLSWSHSETHLLYVAEKKRPKAESFFQTKALDVSASDDEIARLKKPDQAIKGDQFVFYEDWGENMVSKSIPVLC
  VLDVESGNISVLEGVPENVSPGQAFWAPGDAGVVFVGWWHEPFRLGIRFCTNRRSALYYVDLIGGKCELLSDDSL
  AVSSPRLSPDQCRIVYLQYPSLIPHHQCSQLCLYDWYTKVTSVVVDVVPRQLGENFSGIYCSLLPLGCWSADSQR
  VVFDSAQRSRQDLFAVDTQVGTVTSLTAGGSGGSWKLLTIDQDLMVAQFSTPSLPPTLKVGFLPSAGKEQSVLWV
  SLEEAEPIPDIHWGIRVLQPPPEQENVQYAGLDFEAILLQPGSPPDKTQVPMVVMPHGGPHSSFVTAWMLFPAML
  CKMGFAVLLVNYRGSTGFGQDSILSLPGNVGHQDVKDVQFAVEQVLQEEHFDASHVALMGGSHGGFISCHLIGQY
  PETYRACVARNPVINIASMLGSTDIPDWCVVEAGFPFSSDCLPDLSVWAEMLDKSPIRYIPQVKTPLLLMLGQED
  RRVPFKQGMEYYRALKTRNVPVRLLLYPKSTHALSEVEVESDSFMNAVLWLRTHLGS

• Structural information:
  • Interpro: IPR011042  IPR029058  IPR002471  IPR001375  
  • Prosite: PS00708
  • STRING: ENSP00000296456
• Other Databases: GeneCards:  APEH  Malacards:  APEH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006415	translational termination	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
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:0005737	cytoplasm	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050435	amyloid-beta metabolic process	IDA	biological process
GO:0008242	omega peptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
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)