Gene Gene information from NCBI Gene database.
Entrez ID 63929
Gene name X-prolyl aminopeptidase 3
Gene symbol XPNPEP3
Synonyms (NCBI Gene)
APP3ICP55NPHPL1
Chromosome 22
Chromosome location 22q13.2
Summary 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.
3
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.
1058
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0003094 Process Glomerular filtration IMP 20179356
GO:0004177 Function Aminopeptidase activity IBA
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity IMP 20179356
GO:0005515 Function Protein binding IPI 14743216, 25609706, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613553 28052 ENSG00000196236
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
272
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephronophthisis-like nephropathy 1 Pathogenic; Likely pathogenic rs2058187525, rs751910922, rs2146254238, rs769010051, rs373917063, rs267607179, rs2146270895, rs2517973284, rs2517999041, rs759863454 RCV001310283
RCV001310284
RCV001554332
RCV002033772
RCV001945492
RCV000000068
RCV000000069
RCV003224900
RCV003224901
RCV003597861
Papillary renal cell carcinoma type 1 Likely pathogenic rs769010051 RCV005925550
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs139991468 RCV005897556
Familial cancer of breast Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs139991468, rs138501598, rs764558082 RCV005897555
RCV005906961
RCV005910960
Kidney disorder Benign; Uncertain significance; Conflicting classifications of pathogenicity rs200971397, rs2517989949, rs773473817, rs750683625, rs116758113 RCV002294619
RCV002294622
RCV002294723
RCV002294724
RCV002294727
RCV002294387
Melanoma Conflicting classifications of pathogenicity rs138501598 RCV005906962
Associations from Text MiningDisease associations identified through Pubtator
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