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

Summary

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma.
Title: Role of Napsin A and Survivin Immunohistochemical Expression in Bronchogenic Adenocarcinoma.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

EC 3.4.23.5

XP_016883001.1

EC 3.4.23.5

XP_054178683.1

EC 3.4.23.5

XP_054178684.1

EC 3.4.23.5

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)

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