Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63929
Gene name Gene Name - the full gene name approved by the HGNC.
X-prolyl aminopeptidase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XPNPEP3
Synonyms (NCBI Gene) Gene synonyms aliases
APP3, ICP55, NPHPL1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHPL1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137859412 A>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, missense variant
rs143719656 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, intron variant
rs267607179 G>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003767 hsa-miR-1-3p Microarray 15685193
MIRT031703 hsa-miR-16-5p Proteomics 18668040
MIRT042395 hsa-miR-191-3p CLASH 23622248
MIRT722880 hsa-miR-562 HITS-CLIP 19536157
MIRT722879 hsa-miR-6858-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003094 Process Glomerular filtration IMP 20179356
GO:0004177 Function Aminopeptidase activity IBA 21873635
GO:0004177 Function Aminopeptidase activity IMP 20179356
GO:0005515 Function Protein binding IPI 25609706
GO:0005737 Component Cytoplasm IDA 25609706
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613553 28052 ENSG00000196236
Protein
UniProt ID Q9NQH7
Protein name Xaa-Pro aminopeptidase 3 (X-Pro aminopeptidase 3) (EC 3.4.11.9) (Aminopeptidase P3) (APP3)
Protein function Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889). {ECO:000
PDB 5X49
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05195 AMP_N 72 203 Aminopeptidase P, N-terminal domain Domain
PF00557 Peptidase_M24 253 482 Metallopeptidase family M24 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant. {ECO:0000269|PubMed:15708373}.
Sequence
Sequence length 507
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Kidney disease Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephronophthisis Nephronophthisis, Late-onset nephronophthisis rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
20179356
Nephronophthisis-like nephropathy NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 rs267607179, rs2146270895 20179356
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 37354922
Bipolar Disorder Stimulate 32366953
Ciliopathies Associate 21068128
Depressive Disorder Associate 34021117
Depressive Disorder Major Stimulate 32366953
Esophageal Squamous Cell Carcinoma Associate 34586744
Kidney Diseases Cystic Associate 28476889
Nephronophthisis familial juvenile Associate 32660933
Telomeric 22q13 Monosomy Syndrome Associate 38002941