• Gene id: 9476

Gene Summary

• Gene Symbol: NAPSA   Gene   UCSC   Ensembl
• Aliases: KAP, Kdap, NAP1, NAPA, SNAPA
• Gene name: napsin A aspartic peptidase
• Alternate names: napsin-A, ASP4, TA01/TA02, asp 4, aspartyl protease 4, kidney-derived aspartic protease-like protein, napsin-1, pronapsin A,
• Gene location: 19q13.33 (50369330: 50358471)     Exons: 10     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhi
• OMIM: 605011

Protein Summary

• Protein general information: O96009  
  • Name: Napsin A (EC 3.4.23. ) (Aspartyl protease 4) (ASP4) (Asp 4) (Napsin 1) (TA01/TA02)
  • Length: 420  
  • Mass: 45387
  • Tissue specificity: Expressed predominantly in adult lung (type II pneumocytes) and kidney and in fetal lung. Low levels in adult spleen and very low levels in peripheral blood leukocytes.
• Sequence:

  MSPPPLLQPLLLLLPLLNVEPSGATLIRIPLHRVQPGRRILNLLRGWREPAELPKLGAPSPGDKPIFVPLSNYRD
  VQYFGEIGLGTPPQNFTVAFDTGSSNLWVPSRRCHFFSVPCWLHHRFDPKASSSFQANGTKFAIQYGTGRVDGIL
  SEDKLTIGGIKGASVIFGEALWEPSLVFAFAHFDGILGLGFPILSVEGVRPPMDVLVEQGLLDKPVFSFYLNRDP
  EEPDGGELVLGGSDPAHYIPPLTFVPVTVPAYWQIHMERVKVGPGLTLCAKGCAAILDTGTSLITGPTEEIRALH
  AAIGGIPLLAGEYIILCSEIPKLPAVSFLLGGVWFNLTAHDYVIQTTRNGVRLCLSGFQALDVPPPAGPFWILGD
  VFLGTYVAVFDRGDMKSSARVGLARARTRGADLGWGETAQAQFPG

• Structural information:
  • Protein Domains: (78..39-)
    (/note="Peptidase-A1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01103"-)
  • Interpro: IPR001461  IPR001969  IPR033121  IPR021109  
  • Prosite: PS00141 PS51767
  • STRING: ENSP00000253719
• Other Databases: GeneCards:  NAPSA  Malacards:  NAPSA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033619	membrane protein proteolysis	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0004190	aspartic-type endopeptidase activity	IBA	molecular function
GO:0030163	protein catabolic process	IBA	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0033619	membrane protein proteolysis	IEA	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0097208	alveolar lamellar body	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0043129	surfactant homeostasis	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0097208	alveolar lamellar body	IDA	cellular component
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	NAS	biological process
GO:0004190	aspartic-type endopeptidase activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq