ASPRV1 (aspartic peptidase retroviral like 1)

Gene

• Entrez ID: 151516
• Gene name: Aspartic peptidase retroviral like 1
• Gene symbol: ASPRV1
• Synonyms (NCBI Gene): ADLI, MUNO, SASP, SASPase, Taps
• Chromosome: 2
• Chromosome location: 2p13.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004897	hsa-miR-124-3p	Microarray	15685193
MIRT803194	hsa-miR-421	CLIP-seq
MIRT803195	hsa-miR-4709-5p	CLIP-seq
MIRT803196	hsa-miR-591	CLIP-seq
MIRT803197	hsa-miR-646	CLIP-seq
MIRT1937203	hsa-miR-1321	CLIP-seq
MIRT1937204	hsa-miR-4739	CLIP-seq
MIRT1937205	hsa-miR-4756-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004190	Function	Aspartic-type endopeptidase activity	IDA	16098038
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16098038
GO:0016485	Process	Protein processing	IDA	16098038
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043588	Process	Skin development	ISS

Other IDs

• MIM: 611765
• HGNC: 26321
• e!Ensembl: ENSG00000293615

Protein

• UniProt ID: Q53RT3
• Protein name: Retroviral-like aspartic protease 1 (EC 3.4.23.-) (Skin-specific retroviral-like aspartic protease) (SASPase) (Skin aspartic protease) (TPA-inducible aspartic proteinase-like protein) (TAPS)
• Protein function: Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13975	gag-asp_proteas	198 → 291		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles. In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum of intact epidermis
• Sequence:

  MGSPGASLGIKKALQSEQATALPASAPAVSQPTAPAPSCLPKAGQVIPTLLREAPFSSVI
  APTLLCGFLFLAWVAAEVPEESSRMAGSGARSEEGRRQHAFVPEPFDGANVVPNLWLHSF
  EVINDLNHWDHITKLRFLKESLRGEALGVYNRLSPQDQGDYGTVKEALLKAFGVPGAAPS
  HLPKEIVFANSMGKGYYLKGKIGKVPVRFLVDSGAQVSVVHPNLWEEVTDGDLDTLQPFE
  NVVKVANGAEMKILGVWDTAVSLGKLKLKAQFLVANASAEEAIIGTDVLQDHNAILDFEH
  RTCTLKGKKFRLLPVGGSLEDEFDLELIEEDPSSEEGRQELSH

• Sequence length: 343

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant lamellar ichthyosis	Pathogenic	rs1678079858, rs756352033, rs373824162	RCV001254868 RCV001254869 RCV001254870	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS, AUTOSOMAL DOMINANT FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colitis	Colitis	BEFREE	28425040		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29352261, 30305726		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31545552		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29352261	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28249031		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29258883, 29548914, 30944169		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	28249031		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	32516568	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	32516568, 38642798	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28775044		★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis autosomal dominant form	Lamellar ichthyosis	Pubtator	38642798	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29146100, 30785345		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30616404, 30804471, 31140365, 31493351		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29352261, 30305726		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	30530705		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	30467085		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	27395067		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28775044		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16565508		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	31633821	Stimulate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28700735		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30280303		★☆☆☆☆ Found in Text Mining only