• Gene id: 7511

Gene Summary

• Gene Symbol: XPNPEP1   Gene   UCSC   Ensembl
• Aliases: APP1, SAMP, XPNPEP, XPNPEPL, XPNPEPL1
• Gene name: X-prolyl aminopeptidase 1
• Alternate names: xaa-Pro aminopeptidase 1, X-Pro aminopeptidase 1, X-prolyl aminopeptidase (aminopeptidase P) 1, soluble, X-prolyl aminopeptidase 1, soluble, aminoacylproline aminopeptidase, aminopeptidase P, cytosolic, cytosolic aminopeptidase P, soluble aminopeptidase P,
• Gene location: 10q25.1 (109923552: 109864765)     Exons: 24     NC_000010.11
• Gene summary(Entrez): This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and pepti
• OMIM: 602443

Protein Summary

• Protein general information: Q9NQW7  
  • Name: Xaa Pro aminopeptidase 1 (EC 3.4.11.9) (Aminoacylproline aminopeptidase) (Cytosolic aminopeptidase P) (Soluble aminopeptidase P) (sAmp) (X Pro aminopeptidase 1) (X prolyl aminopeptidase 1, soluble)
  • Length: 623  
  • Mass: 69918
  • Tissue specificity: Expressed in all tissues tested, including pancreas, heart, muscle, kidney, liver, lung and brain. Highest levels in pancreas. {ECO
• Sequence:

  MPPKVTSELLRQLRQAMRNSEYVTEPIQAYIIPSGDAHQSEYIAPCDCRRAFVSGFDGSAGTAIITEEHAAMWTD
  GRYFLQAAKQMDSNWTLMKMGLKDTPTQEDWLVSVLPEGSRVGVDPLIIPTDYWKKMAKVLRSAGHHLIPVKENL
  VDKIWTDRPERPCKPLLTLGLDYTGISWKDKVADLRLKMAERNVMWFVVTALDEIAWLFNLRGSDVEHNPVFFSY
  AIIGLETIMLFIDGDRIDAPSVKEHLLLDLGLEAEYRIQVHPYKSILSELKALCADLSPREKVWVSDKASYAVSE
  TIPKDHRCCMPYTPICIAKAVKNSAESEGMRRAHIKDAVALCELFNWLEKEVPKGGVTEISAADKAEEFRRQQAD
  FVDLSFPTISSTGPNGAIIHYAPVPETNRTLSLDEVYLIDSGAQYKDGTTDVTRTMHFGTPTAYEKECFTYVLKG
  HIAVSAAVFPTGTKGHLLDSFARSALWDSGLDYLHGTGHGVGSFLNVHEGPCGISYKTFSDEPLEAGMIVTDEPG
  YYEDGAFGIRIENVVLVVPVKTKYNFNNRGSLTFEPLTLVPIQTKMIDVDSLTDKECDWLNNYHLTCRDVIGKEL
  QKQGRQEALEWLIRETQPISKQH

• Structural information:
  • Interpro: IPR029149  IPR036005  IPR000587  IPR000994  IPR033740   IPR032416  IPR001131  
  • Prosite: PS00491
  • CDD: cd01085
  • PDB: 3CTZ
  • PDBsum: 3CTZ
  • STRING: ENSP00000421566
• Other Databases: GeneCards:  XPNPEP1  Malacards:  XPNPEP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0070006	metalloaminopeptidase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0010815	bradykinin catabolic process	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0070006	metalloaminopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004177	aminopeptidase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq