2. Gene
  3. ASPRV1 - aspartic peptidase retroviral like 1 Gene

ASPRV1 - aspartic peptidase retroviral like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ADLI; MUNO; SASP; Taps; SASPase

Gene ID: 151516 | Gene type: protein coding

About ASPRV1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,932,717-70,087,375 (from NCBI)

This gene has 296 transcripts (splice variants).

Summary

Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like Protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]

ASPRV1 Products(1)

mRNA Protein Name
NM_152792.4 NP_690005.3 retroviral-like aspartic protease 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables aspartic-type endopeptidase activity IDA
IDA: Inferred from direct assay
16098038 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein processing IDA
IDA: Inferred from direct assay
16098038 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASPRV1 Protein Structure

Asp_protease_2

Asp_protease_2: Aspartyl protease (199 - 288)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
Protein Preferred Names Protein Names

retroviral-like aspartic protease 1

TPA-inducible aspartic proteinase-like protein

Related Diseases

Diseases Alias
Ichthyosis, Lamellar, Autosomal Dominant

Lamellar Ichthyosis, Autosomal Dominant

ADLI

Ichthyosis Lamellar, Autosomal Dominant

Autosomal Dominant Lamellar Ichthyosis
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01106 ASPRV1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ASPRV1 VGNC VGNC:70134
Mus musculus ASPRV1 MGD MGI:1915105
Rattus norvegicus ASPRV1 RGD RGD:1560859
Canis familiaris ASPRV1 VGNC VGNC:108224