Gene Gene information from NCBI Gene database.
Entrez ID 7511
Gene name X-prolyl aminopeptidase 1
Gene symbol XPNPEP1
Synonyms (NCBI Gene)
APP1SAMPXPNPEPXPNPEPLXPNPEPL1
Chromosome 10
Chromosome location 10q25.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
170
miRTarBase ID miRNA Experiments Reference
MIRT439278 hsa-miR-155-5p HITS-CLIP 22473208
MIRT439278 hsa-miR-155-5p HITS-CLIP 22473208
MIRT1496159 hsa-miR-1185 CLIP-seq
MIRT1496160 hsa-miR-2116 CLIP-seq
MIRT1496161 hsa-miR-3163 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IDA 11106490
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity TAS 9465902
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602443 12822 ENSG00000108039
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQW7
Protein 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)
Protein function Metalloaminopeptidase that catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro (PubMed:11106490, PubMed:18515364, PubMed:35165443). Contributes to the degradation of bradykinin (PubMed:111064
PDB 3CTZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01321 Creatinase_N 10 154 Creatinase/Prolidase N-terminal domain Domain
PF16189 Creatinase_N_2 157 326 Domain
PF00557 Peptidase_M24 328 544 Metallopeptidase family M24 Domain
PF16188 Peptidase_M24_C 555 619 C-terminal region of peptidase_M24 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested, including pancreas, heart, muscle, kidney, liver, lung and brain. Highest levels in pancreas. {ECO:0000269|PubMed:9465902}.
Sequence
Sequence length 623
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
BIPOLAR I DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma 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
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 10021369, 24722208, 26446838
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12900421 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33482886 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 20460270 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia BEFREE 24104524
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 28072414 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 12057910 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 25586835
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 29911253
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 29019858, 31843928
★☆☆☆☆
Found in Text Mining only