ASPRV1: Aspartic Peptidase Retroviral-like 1
A skin-specific retroviral-like aspartic protease involved in profilaggrin processing and epidermal barrier function
Gene Information Card
| Symbol | ASPRV1 |
|---|---|
| Full Name | Aspartic Peptidase, Retroviral-like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 151516 ncbi.nlm.nih.gov/gene/151516 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q53RT3 |
| OMIM ID | 611547 |
| HGNC ID | 1387 |
| Aliases | SASPase, Taps, FLJ20464 |
Description
ASPRV1 (Aspartic Peptidase, Retroviral-like 1) encodes a skin-specific aspartic protease known as SASPase (Skin Aspartic Protease). It is essential for the processing of profilaggrin into filaggrin monomers, a critical step in epidermal barrier formation and hydration. The enzyme is expressed predominantly in the granular layer of the epidermis and is involved in late-stage keratinocyte differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis vulgaris (mild forms) | Loss-of-function mutations in ASPRV1 impair profilaggrin processing, leading to reduced filaggrin levels and compromised skin barrier. | ClinVar, OMIM |
| Atopic dermatitis (susceptibility) | Defective filaggrin processing due to ASPRV1 variants contributes to skin barrier dysfunction and increased allergen penetration. | ClinVar, NCBI |
| Erythrokeratoderma variabilis et progressiva (rare) | Missense mutations in ASPRV1 disrupt enzyme activity, affecting epidermal differentiation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 0.8 | Low |
| Oral mucosa | 0.5 | Low |
| Vagina | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression in differentiated keratinocytes |
| NHEK (normal human epidermal keratinocytes) | 18.7 | High expression in differentiated cells |
| A431 (epidermoid carcinoma) | 8.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Pro82Leu) | Missense | 0.1% (gnomAD) | Reduced enzymatic activity; associated with ichthyosis vulgaris |
| c.497G>A (p.Arg166His) | Missense | 0.05% | Impaired profilaggrin cleavage; linked to atopic dermatitis |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; severe skin barrier defects |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish protease activity, leading to profilaggrin accumulation and barrier dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity | • proteolysis |
| • keratinocyte differentiation | • epidermis development |
| • peptidase activity |
Pathways
• Profilaggrin processing and filaggrin formation
• Epidermal differentiation complex (EDC) signaling
Protein Summary
ASPRV1 encodes a 34 kDa aspartic protease (SASPase) with a retroviral-like catalytic domain. It is synthesized as a zymogen and undergoes autocatalytic activation. The active enzyme specifically cleaves profilaggrin at multiple sites to generate filaggrin monomers, which aggregate keratin filaments and are degraded into natural moisturizing factors. SASPase is localized to keratohyalin granules in the stratum granulosum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPRV1 Knockout HEK293 Cell Line | EDJ-KQ11340 | Human | 151516 | Details Get a Quote |
| ASPRV1 Knockout HeLa Cell Line | EDJ-KQ58689 | Human | 151516 | Details Get a Quote |
| ASPRV1 Knockout A-549 Cell Line | EDJ-KQ67172 | Human | 151516 | Details Get a Quote |
| ASPRV1 Knockout HCT 116 Cell Line | EDJ-KQ75574 | Human | 151516 | Details Get a Quote |
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