• Gene id: 63929

Gene Summary

• Gene Symbol: XPNPEP3   Gene   UCSC   Ensembl
• Aliases: APP3, ICP55, NPHPL1
• Gene name: X-prolyl aminopeptidase 3
• Alternate names: xaa-Pro aminopeptidase 3, Intermediate Cleaving Peptidase 55, X-Pro aminopeptidase 3, X-prolyl aminopeptidase 3, mitochondrial, probable Xaa-Pro aminopeptidase 3,
• Gene location: 22q13.2 (40857080: 40932814)     Exons: 12     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize t
• OMIM: 613553

Protein Summary

• Protein general information: Q9NQH7  
  • Name: Xaa Pro aminopeptidase 3 (X Pro aminopeptidase 3) (EC 3.4.11.9) (Aminopeptidase P3) (APP3)
  • Length: 507  
  • Mass: 57034
  • Tissue specificity: Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant. {ECO
• Sequence:

  MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALR
  RHKLMSLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAI
  LFVPRRDPSRELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEA
  KAKSKNKVRGVQQLIQRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAY
  PPVVAGGNRSNTLHYVKNNQLIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAELYEAVLEIQRDCLALC
  FPGTSLENIYSMMLTLIGQKLKDLGIMKNIKENNAFKAARKYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITI
  EPGIYIPEDDKDAPEKFRGLGVRIEDDVVVTQDSPLILSADCPKEMNDIEQICSQAS

• Structural information:
  • Interpro: IPR007865  IPR029149  IPR036005  IPR000994  
  • PDB: 5X49
  • PDBsum: 5X49
  • STRING: ENSP00000349658
• Other Databases: GeneCards:  XPNPEP3  Malacards:  XPNPEP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0008233	peptidase activity	IBA	molecular function
GO:0004177	aminopeptidase activity	IBA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0030145	manganese ion binding	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016485	protein processing	IMP	biological process
GO:0004177	aminopeptidase activity	IMP	molecular function
GO:0003094	glomerular filtration	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070006	metalloaminopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0030145	manganese ion binding	IDA	molecular function
GO:0070006	metalloaminopeptidase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Nephronophthisis	KEGG:H00537
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R