NAPSA (napsin A aspartic peptidase)

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Gene Gene information from NCBI Gene database.
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Entrez ID 9476
Gene name Napsin A aspartic peptidase
Gene symbol NAPSA
Synonyms (NCBI Gene)
KAPKdapNAP1NAPANR1H2-AS1SNAPA
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhi
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 14766755
GO:0004175 Function Endopeptidase activity IEA
GO:0004190 Function Aspartic-type endopeptidase activity IBA
GO:0004190 Function Aspartic-type endopeptidase activity IEA
GO:0004190 Function Aspartic-type endopeptidase activity NAS 9877162
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
605631 13395 ENSG00000131400
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O96009
Protein name Napsin-A (EC 3.4.23.-) (Aspartyl protease 4) (ASP4) (Asp 4) (Napsin-1) (TA01/TA02)
Protein function May be involved in processing of pneumocyte surfactant precursors.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00026 Asp 77 → 401 Eukaryotic aspartyl protease Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in adult lung (type II pneumocytes) and kidney and in fetal lung. Low levels in adult spleen and very low levels in peripheral blood leukocytes.
Sequence 
MSPPPLLQPLLLLLPLLNVEPSGATLIRIPLHRVQPGRRILNLLRGWREPAELPKLGAPS
PGDKPIFVPLSNYRDVQYFGEIGLGTPPQNFTVAFDTGSSNLWVPSRRCHFFSVPCWLHH
RFDPKASSSFQANGTKFAIQYGTGRVDGILSEDKLTIGGIKGASVIFGEALWEPSLVFAF
AHFDGILGLGFPILSVEGVRPPMDVLVEQGLLDKPVFSFYLNRDPEEPDGGELVLGGSDP
AHYIPPLTFVPVTVPAYWQIHMERVKVGPGLTLCAKGCAAILDTGTSLITGPTEEIRALH
AAIGGIPLLAGEYIILCSEIPKLPAVSFLLGGVWFNLTAHDYVIQTTRNGVRLCLSGFQA
LDVPPPAGPFWILGDVFLGTYVAVFDRGDMKSSARVGLARARTRGADLGWGETAQAQFPG
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Lysosome Surfactant metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
Myoepithelial tumor Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (75)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 12698189
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22418245, 22914608, 23026196, 23060301, 25169055, 26124082, 26400099, 26799356, 27258567, 28362708, 28884744, 29268402, 29664741, 30035857, 30092812
View all (4 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 10580105, 11050472, 18195689, 22418245, 22914608, 23887294, 26945446, 28128193, 28884744, 29233112, 30329165, 30354850, 30389437, 30628926, 31130231
View all (2 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23887294
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 22914608, 24191930, 26945446, 27167671, 29266433, 30036224
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 26945446, 29266433
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17210692
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 22914608
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12151090, 26945446, 29266433, 29851704, 30036224, 30550483, 31361605
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Large Cell Large cell carcinoma Pubtator 28884744 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
CTSH 2 shared pathwaysLysosome, Surfactant metabolism Related via 2 shared pathways including Lysosome, Surfactant metabolism.
Alzheimer disease Linked via 1 of 1 related geneCTSH Autoimmune disease Linked via 1 of 1 related geneCTSH Basal cell carcinoma Linked via 1 of 1 related geneCTSH Bipolar disorder Linked via 1 of 1 related geneCTSH Celiac disease Linked via 1 of 1 related geneCTSH