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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nephronophthisis-like nephropathy 1 Pathogenic; Likely pathogenic rs2058187525, rs751910922, rs2146254238, rs769010051, rs373917063, rs267607179, rs2146270895, rs2517973284, rs2517999041, rs759863454 RCV001310283
RCV001310284
RCV001554332
RCV002033772
RCV001945492
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary renal cell carcinoma type 1 Likely pathogenic rs769010051 RCV005925550
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37354922 Associate
★☆☆☆☆
Found in Text Mining only
AURAL ATRESIA, CONGENITAL Aural Atresia, Congenital BEFREE 25828868
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 32366953 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5 Kidney Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 20179346, 20179356
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies GENOMICS_ENGLAND_DG 20179356
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 21068128 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29383790
★☆☆☆☆
Found in Text Mining only
Cystic kidney Cystic Kidney Disease BEFREE 28476889
★☆☆☆☆
Found in Text Mining only