XPNPEP1

 Xaa-Pro aminopeptidase 1 is an enzyme that in humans is encoded by the XPNPEP1 gene.^[5]

XPNPEP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CTZ
Identifiers
Aliases	XPNPEP1, APP1, SAMP, XPNPEP, XPNPEPL, XPNPEPL1, X-prolyl aminopeptidase (aminopeptidase P) 1, soluble, X-prolyl aminopeptidase 1
External IDs	OMIM: 602443 MGI: 2180003 HomoloGene: 6424 GeneCards: XPNPEP1
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.1 Start 109,864,766 bp[1] End 109,923,553 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 D2 Start 52,931,926 bp[2] End 53,040,214 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • peptidase activity • aminopeptidase activity • hydrolase activity • metallopeptidase activity • protein homodimerization activity • manganese ion binding • metal ion binding • metalloaminopeptidase activity Cellular component • extracellular exosome • cytoplasm • cytosol Biological process • bradykinin catabolic process • proteolysis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7511	170750
Ensembl	ENSG00000108039	ENSMUSG00000025027
UniProt	Q9NQW7	Q6P1B1
RefSeq (mRNA)	NM_001167604 NM_020383 NM_001324128 NM_001324131 NM_001324132 NM_001324133 NM_001324134 NM_001324135 NM_001324136	NM_133216 NM_001374834
RefSeq (protein)	NP_001161076 NP_001311057 NP_001311060 NP_001311061 NP_001311062 NP_001311063 NP_001311064 NP_001311065 NP_065116	NP_573479
Location (UCSC)	Chr 10: 109.86 – 109.92 Mb	Chr 19: 52.93 – 53.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

FunctionEdit

X-prolyl aminopeptidase (EC 3.4.11.9) is a proline-specific metalloaminopeptidase that specifically catalyzes the removal of any unsubstituted N-terminal amino acid that is adjacent to a penultimate proline residue. Because of its specificity toward proline, it has been suggested that X-prolyl aminopeptidase is important in the maturation and degradation of peptide hormones, neuropeptides, and tachykinins, as well as in the digestion of otherwise resistant dietary protein fragments, thereby complementing the pancreatic peptidases. Deficiency of X-prolyl aminopeptidase results in excretion of large amounts of imino-oligopeptides in urine (Blau et al., 1988).[supplied by OMIM]^[5]

Model organismsEdit

Model organisms have been used in the study of XPNPEP1 function. A conditional knockout mouse line called Xpnpep1^{tm1a(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[6] Male and female animals underwent a standardized phenotypic screen^[7] to determine the effects of deletion.^{[8][9][10][11]} Additional screens performed: - In-depth immunological phenotyping^[12] - in-depth bone and cartilage phenotyping^[13]

Xpnpep1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[7][12][13]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Abnormal
Homozygous Fertility	Normal
Body weight	Abnormal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Abnormal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal
Radiography	Abnormal
Eye morphology	Normal
Clinical chemistry	Abnormal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Abnormal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.