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NAPSA napsin A aspartic peptidase [ Homo sapiens (human) ]

Gene ID: 9476, updated on 5-Mar-2024

Summary

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Official Symbol
NAPSAprovided by HGNC
Official Full Name
napsin A aspartic peptidaseprovided by HGNC
Primary source
HGNC:HGNC:13395
See related
Ensembl:ENSG00000131400 MIM:605631; AllianceGenome:HGNC:13395
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KAP; Kdap; NAP1; NAPA; SNAPA
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 inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]
Expression
Restricted expression toward lung (RPKM 393.9) See more
Orthologs
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Genomic context

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See NAPSA in Genome Data Viewer
Location:
19q13.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50358477..50365639, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53446012..53456925, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50861734..50868896, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50816362-50816890 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50819536-50819716 Neighboring gene potassium voltage-gated channel subfamily C member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50829251-50829772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10954 Neighboring gene Sharpr-MPRA regulatory region 11330/13384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10956 Neighboring gene uncharacterized LOC105372437 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50833762-50833941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50836875-50837827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14980 Neighboring gene napsin B aspartic peptidase (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14984 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50879623-50880434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50888337-50888838 Neighboring gene nuclear receptor subfamily 1 group H member 2 Neighboring gene DNA polymerase delta 1, catalytic subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918101-50918885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50918886-50919670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10966

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A study on the immunohistochemical expression of napsin A in oral squamous cell carcinomas, intraepithelial neoplasia, and normal oral mucosa. Gaydarov N, et al. J Histotechnol, 2021 Sep. PMID 33876717
  2. Napsin A is a highly sensitive marker for nephrogenic adenoma: an immunohistochemical study with a specificity test in genitourinary tumors. Sharifai N, et al. Hum Pathol, 2020 Aug. PMID 32561332
  3. Immunohistochemical expression of Napsin A in normal human fetal lungs at different gestational ages and in acquired and congenital pathological pulmonary conditions. Giordano G, et al. Virchows Arch, 2020 Oct. PMID 32270298
  4. Pepstatin pull-down at high pH is a powerful tool for detection and analysis of napsin A. Maurer A, et al. Biochem Biophys Res Commun, 2019 Jul 12. PMID 31130231
  5. Raspberry bodies and hyaline globules with positive napsin A immunoexpression are useful features in diagnosing clear cell carcinoma of the female genital tract in cytology samples. Rekhi B, et al. Cytopathology, 2018 Dec. PMID 29956857

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. P504S/alpha-methylacyl-CoA racemase, HNF1beta and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis.
    Title: P504S/alpha-methylacyl-CoA racemase, HNF1β and napsin A in morular metaplasia and clear cell carcinoma of the endometrium: An immunohistochemical analysis.
  2. A study on the immunohistochemical expression of napsin A in oral squamous cell carcinomas, intraepithelial neoplasia, and normal oral mucosa.
    Title: A study on the immunohistochemical expression of napsin A in oral squamous cell carcinomas, intraepithelial neoplasia, and normal oral mucosa.
  3. Napsin-A and AMACR are Superior to HNF-1beta in Distinguishing Between Mesonephric Carcinomas and Clear Cell Carcinomas of the Gynecologic Tract.
    Title: Napsin-A and AMACR are Superior to HNF-1β in Distinguishing Between Mesonephric Carcinomas and Clear Cell Carcinomas of the Gynecologic Tract.
  4. Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma.
    Title: Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma.
  5. Napsin A is a highly sensitive marker for nephrogenic adenoma: an immunohistochemical study with a specificity test in genitourinary tumors.
    Title: Napsin A is a highly sensitive marker for nephrogenic adenoma: an immunohistochemical study with a specificity test in genitourinary tumors.
  6. Surfactant Expression Defines an Inflamed Subtype of Lung Adenocarcinoma Brain Metastases that Correlates with Prolonged Survival.
    Title: Surfactant Expression Defines an Inflamed Subtype of Lung Adenocarcinoma Brain Metastases that Correlates with Prolonged Survival.
  7. Immunohistochemical expression of Napsin A in normal human fetal lungs at different gestational ages and in acquired and congenital pathological pulmonary conditions.
    Title: Immunohistochemical expression of Napsin A in normal human fetal lungs at different gestational ages and in acquired and congenital pathological pulmonary conditions.
  8. Data indicate that lung napsin A aspartic peptidase (napsin A) in many mammals is a heterogeneous enzyme.
    Title: Pepstatin pull-down at high pH is a powerful tool for detection and analysis of napsin A.
  9. Napsin A is of value in resolving diagnostic confusion between gastric-type adenocarcinoma (GAS) and clear cell carcinoma (CCC), whereas HNF1beta lacks specificity and its use in this setting is discouraged.
    Title: Expression of Markers of Müllerian Clear Cell Carcinoma in Primary Cervical and Vaginal Gastric-type Adenocarcinomas.
  10. Raspberry bodies and hyaline globules with positive napsin A immunoexpression are useful features in diagnosing clear cell carcinoma.
    Title: Raspberry bodies and hyaline globules with positive napsin A immunoexpression are useful features in diagnosing clear cell carcinoma of the female genital tract in cytology samples.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aspartic-type endopeptidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in membrane protein proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in surfactant homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in alveolar lamellar body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in multivesicular body lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
napsin-A
Names
ASP4
TA01/TA02
asp 4
aspartyl protease 4
kidney-derived aspartic protease-like protein
napsin-1
pronapsin A
NP_004842.1
XP_016883001.1
XP_054178683.1
XP_054178684.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004851.3 → NP_004842.1  napsin-A preproprotein

    See identical proteins and their annotated locations for NP_004842.1

    Status: REVIEWED

    Source sequence(s)
    AF098484
    Consensus CDS
    CCDS12794.1
    UniProtKB/Swiss-Prot
    O96009, Q8WWD9
    Related
    ENSP00000253719.1, ENST00000253719.7
    Conserved Domains (2) summary
    pfam00026
    Location:77 → 401
    Asp; Eukaryotic aspartyl protease
    cl11403
    Location:72 → 399
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50358477..50365639 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027512.2 → XP_016883001.1  napsin-A isoform X1

    UniProtKB/TrEMBL
    M0QXC5
    Related
    ENSP00000469061.2, ENST00000598915.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53446012..53456925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322708.1 → XP_054178683.1  napsin-A isoform X2

    UniProtKB/Swiss-Prot
    O96009, Q8WWD9

  2. XM_054322709.1 → XP_054178684.1  napsin-A isoform X1

    UniProtKB/TrEMBL
    M0QXC5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O96009.1 GenPept UniProtKB/Swiss-Prot:O96009

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