Gene Gene information from NCBI Gene database.
Entrez ID 9520
Gene name Aminopeptidase puromycin sensitive
Gene symbol NPEPPS
Synonyms (NCBI Gene)
AAP-SMP100PSA
Chromosome 17
Chromosome location 17q21.32
Summary This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkap
miRNA miRNA information provided by mirtarbase database.
567
miRTarBase ID miRNA Experiments Reference
MIRT023333 hsa-miR-122-5p Microarray 17612493
MIRT048787 hsa-miR-93-5p CLASH 23622248
MIRT046171 hsa-miR-27b-3p CLASH 23622248
MIRT044392 hsa-miR-320a CLASH 23622248
MIRT042580 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0004177 Function Aminopeptidase activity EXP 9668046, 11062501
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity IMP 23911349
GO:0004177 Function Aminopeptidase activity TAS 10329370
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606793 7900 ENSG00000141279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55786
Protein name Puromycin-sensitive aminopeptidase (PSA) (EC 3.4.11.14) (Cytosol alanyl aminopeptidase) (AAP-S)
Protein function Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC c
PDB 8SW0 , 8SW1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17900 Peptidase_M1_N 59 245 Domain
PF01433 Peptidase_M1 280 497 Peptidase family M1 domain Domain
PF11838 ERAP1_C 578 893 ERAP1-like C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver, epithelium of renal tubules, epithelium of small and large intestine, gastric epithelial cells, and alveoli of the lung (at protein level). {ECO:0000269|PubMed:10978616}.
Sequence
MWLAAAAPSLARRLLFLGPPPPPLLLLVFSRSSRRRLHSLGLAAMPEKRPFERLPADVSP
INYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDIITASYAPEGDEEIHATGF
NYQNEDEKVTLSFPSTLQTGTGTLKIDFVGELNDKMKGFYRSKYTTPSGEVRYAAVTQFE
ATDARRAFPCWDEPAIKATFDISLVVPKDRVALSNMNVIDRKPYPDDENLVEVKFARTPV
MSTYL
VAFVVGEYDFVETRSKDGVCVRVYTPVGKAEQGKFALEVAAKTLPFYKDYFNVPY
PLPKIDLIAIADFAAGAMENWGLVTYRETALLIDPKNSCSSSRQWVALVVGHELAHQWFG
NLVTMEWWTHLWLNEGFASWIEYLCVDHCFPEYDIWTQFVSADYTRAQELDALDNSHPIE
VSVGHPSEVDEIFDAISYSKGASVIRMLHDYIGDKDFKKGMNMYLTKFQQKNAATEDLWE
SLENASGKPIAAVMNTW
TKQMGFPLIYVEAEQVEDDRLLRLSQKKFCAGGSYVGEDCPQW
MVPITISTSEDPNQAKLKILMDKPEMNVVLKNVKPDQWVKLNLGTVGFYRTQYSSAMLES
LLPGIRDLSLPPVDRLGLQNDLFSLARAGIISTVEVLKVMEAFVNEPNYTVWSDLSCNLG
ILSTLLSHTDFYEEIQEFVKDVFSPIGERLGWDPKPGEGHLDALLRGLVLGKLGKAGHKA
TLEEARRRFKDHVEGKQILSADLRSPVYLTVLKHGDGTTLDIMLKLHKQADMQEEKNRIE
RVLGATLLPDLIQKVLTFALSEEVRPQDTVSVIGGVAGGSKHGRKAAWKFIKDNWEELYN
RYQGGFLISRLIKLSVEGFAVDKMAGEVKAFFESHPAPSAERTIQQCCENILL
NAAWLKR
DAESIHQYLLQRKASPPTV
Sequence length 919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs34598464 RCV005922571
Cervical cancer Uncertain significance rs34598464 RCV005922573
Clear cell carcinoma of kidney Uncertain significance rs34598464 RCV005922574
Colorectal cancer Uncertain significance rs34598464 RCV005922575
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrodysostosis Associate 32783359
Adenocarcinoma Associate 30402808, 32512818
Adenocarcinoma Stimulate 34606082, 9712452
Adenoma Stimulate 26078706
Alzheimer Disease Associate 32854315
Amyloidosis Associate 35418036
Bone Diseases Associate 10569618
Calcinosis Cutis Stimulate 23826159
Cap Myopathy Associate 20860009
Carcinoma Renal Cell Associate 16985214, 18216146