• Gene id: 151516

Gene Summary

• Gene Symbol: ASPRV1   Gene   UCSC   Ensembl
• Aliases: MUNO, SASP, SASPase, Taps
• Gene name: aspartic peptidase retroviral like 1
• Alternate names: retroviral-like aspartic protease 1, TPA-inducible aspartic proteinase-like protein, skin aspartic protease, skin-specific retroviral-like aspartic protease,
• Gene location: 2p13.3 (69962264: 69960088)     Exons: 1     NC_000002.12
• Gene summary(Entrez): Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and
• OMIM: 610574

Protein Summary

• Protein general information: Q53RT3  
  • Name: Retroviral like aspartic protease 1 (EC 3.4.23. ) (Skin specific retroviral like aspartic protease) (SASPase) (Skin aspartic protease) (TPA inducible aspartic proteinase like protein) (TAPS)
  • Length: 343  
  • Mass: 36991
  • Tissue specificity: Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles. In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum of intact epidermis
• Sequence:

  MGSPGASLGIKKALQSEQATALPASAPAVSQPTAPAPSCLPKAGQVIPTLLREAPFSSVIAPTLLCGFLFLAWVA
  AEVPEESSRMAGSGARSEEGRRQHAFVPEPFDGANVVPNLWLHSFEVINDLNHWDHITKLRFLKESLRGEALGVY
  NRLSPQDQGDYGTVKEALLKAFGVPGAAPSHLPKEIVFANSMGKGYYLKGKIGKVPVRFLVDSGAQVSVVHPNLW
  EEVTDGDLDTLQPFENVVKVANGAEMKILGVWDTAVSLGKLKLKAQFLVANASAEEAIIGTDVLQDHNAILDFEH
  RTCTLKGKKFRLLPVGGSLEDEFDLELIEEDPSSEEGRQELSH

• Structural information:
  • Protein Domains: (207..28-)
    (/note="Peptidase-A2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00275"-)
  • Interpro: IPR001969  IPR033539  IPR001995  IPR021109  
  • Prosite: PS50175 PS00141
  • STRING: ENSP00000315383
• Other Databases: GeneCards:  ASPRV1  Malacards:  ASPRV1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016485	protein processing	IBA	biological process
GO:0004190	aspartic-type endopeptidase activity	IBA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043588	skin development	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016485	protein processing	IDA	biological process
GO:0004190	aspartic-type endopeptidase activity	IDA	molecular function
GO:0043588	skin development	ISS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016485	protein processing	IBA	biological process
GO:0004190	aspartic-type endopeptidase activity	IBA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043588	skin development	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016485	protein processing	IDA	biological process
GO:0004190	aspartic-type endopeptidase activity	IDA	molecular function
GO:0043588	skin development	ISS	biological process
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881