Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9520
Gene name Gene Name - the full gene name approved by the HGNC.
Aminopeptidase puromycin sensitive
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPEPPS
Synonyms (NCBI Gene) Gene synonyms aliases
AAP-S, MP100, PSA
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606793 7900 ENSG00000141279
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease 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