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ASPRV1 - aspartic peptidase retroviral like 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 151516

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	References	Source
enables aspartic-type endopeptidase activity	IDA IDA: Inferred from direct assay	16098038	GOA

Biological Process GO Annotation	Evidence	References	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

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

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 Set	/	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
Others	ASPRV1	NCBI