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] See more...

Aliases for ASPRV1 Gene

Aliases for ASPRV1 Gene

  • Aspartic Peptidase Retroviral Like 1 2 3 5
  • Skin-Specific Retroviral-Like Aspartic Protease 3 4
  • TPA-Inducible Aspartic Proteinase-Like Protein 3 4
  • Retroviral-Like Aspartic Protease 1 3 4
  • Skin Aspartic Protease 3 4
  • SASPase 3 4
  • SASP 3 4
  • Skin ASpartic Protease 2
  • EC 3.4.23.- 4
  • MUNO 3
  • Taps 3
  • TAPS 4

External Ids for ASPRV1 Gene

Previous GeneCards Identifiers for ASPRV1 Gene

  • GC02M070041
  • GC02M070187
  • GC02M069923

Summaries for ASPRV1 Gene

Entrez Gene Summary for ASPRV1 Gene

  • 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]

GeneCards Summary for ASPRV1 Gene

ASPRV1 (Aspartic Peptidase Retroviral Like 1) is a Protein Coding gene. Diseases associated with ASPRV1 include Autotopagnosia and Vestibulocochlear Nerve Disease. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity.

Additional gene information for ASPRV1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPRV1 Gene

Genomics for ASPRV1 Gene

GeneHancer (GH) Regulatory Elements for ASPRV1 Gene

Promoters and enhancers for ASPRV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J069961 Enhancer 0.8 Ensembl ENCODE 750.6 -1.5 -1536 6.8 ELF3 ZFX HNF1A SP5 REST CTBP1 EGR1 ZKSCAN1 DPF2 FOXP1 ASPRV1 piR-37382 PCBP1-AS1 FAM136A PCYOX1 piR-41678
GH02J069911 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.8 +46.9 46927 7.4 SIN3A ZBTB40 SP1 CTCF ZBTB6 MLX RBPJ POLR2A CEBPZ USF2 MXD1 SNRNP27 ASPRV1 AAK1 ADD2 TIA1 CD207 PCBP1-AS1 C2orf42 CLEC4F
GH02J070067 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.4 -107.3 -107335 5.6 CTCF FOXA1 RBPJ POLR2A NR2F1 NR2F6 CREB1 MIXL1 ZNF362 MYC MXD1 ASPRV1 PCBP1-AS1 C2orf42 SNRNP27 PCBP1 GMCL1 RN7SL470P lnc-C2orf42-8 RF00017-3229
GH02J069931 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 26.9 +28.2 28247 4.5 MLX RBPJ SMARCE1 NR2F6 ATF1 CREB1 MIXL1 NFYC RELA HLF MXD1 SNRNP27 ASPRV1 PCBP1 PCBP1-AS1 GMCL1 C2orf42 lnc-ASPRV1-2 RF01210-200
GH02J069996 Enhancer 1.3 FANTOM5 Ensembl ENCODE 24.5 -36.2 -36235 3.4 ZBTB40 SREBF1 SMARCE1 CC2D1A ELF1 MNT ZNF148 GTF2F1 NCOA3 MAFK ASPRV1 PCBP1-AS1 CLEC4F TEX261 MXD1 TIA1 PCBP1 GMCL1 piR-53968 lnc-PCBP1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASPRV1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASPRV1 gene promoter:
  • AML1a
  • ATF6
  • c-Myc
  • LCR-F1
  • Max1
  • MAZR
  • NCX
  • Pax-2
  • Pax-2a

Genomic Locations for ASPRV1 Gene

Genomic Locations for ASPRV1 Gene
chr2:69,960,089-69,962,265
(GRCh38/hg38)
Size:
2,177 bases
Orientation:
Minus strand
chr2:70,187,221-70,189,397
(GRCh37/hg19)
Size:
2,177 bases
Orientation:
Minus strand

Genomic View for ASPRV1 Gene

Genes around ASPRV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPRV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPRV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPRV1 Gene

Proteins for ASPRV1 Gene

  • Protein details for ASPRV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53RT3-APRV1_HUMAN
    Recommended name:
    Retroviral-like aspartic protease 1
    Protein Accession:
    Q53RT3
    Secondary Accessions:
    • Q8N5P2
    • Q96LT3
    • Q96N43

    Protein attributes for ASPRV1 Gene

    Size:
    343 amino acids
    Molecular mass:
    36991 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAB71587.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ASPRV1 Gene

Post-translational modifications for ASPRV1 Gene

  • Undergoes autocleavage which is necessary for activation of the protein.
  • Glycosylation at Asn276
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPRV1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASPRV1 Gene

Domains & Families for ASPRV1 Gene

Gene Families for ASPRV1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ASPRV1 Gene

Suggested Antigen Peptide Sequences for ASPRV1 Gene

GenScript: Design optimal peptide antigens:
  • TPA-inducible aspartic proteinase-like protein (APRV1_HUMAN)
genes like me logo Genes that share domains with ASPRV1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASPRV1 Gene

Function for ASPRV1 Gene

Enzyme Numbers (IUBMB) for ASPRV1 Gene

Phenotypes From GWAS Catalog for ASPRV1 Gene

Gene Ontology (GO) - Molecular Function for ASPRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IDA 16098038
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ASPRV1: view

Phenotypes for ASPRV1 Gene

genes like me logo Genes that share phenotypes with ASPRV1: view

Animal Models for ASPRV1 Gene

MGI Knock Outs for ASPRV1:

Animal Model Products

CRISPR Products

miRNA for ASPRV1 Gene

miRTarBase miRNAs that target ASPRV1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPRV1

No data available for Molecular function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASPRV1 Gene

Localization for ASPRV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPRV1 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASPRV1 gene
Compartment Confidence
cytoskeleton 2
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for ASPRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 16098038
genes like me logo Genes that share ontologies with ASPRV1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASPRV1 Gene

Pathways & Interactions for ASPRV1 Gene

PathCards logo

SuperPathways for ASPRV1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASPRV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016485 protein processing IDA,IEA 16098038
GO:0043588 skin development ISS,IEA --
genes like me logo Genes that share ontologies with ASPRV1: view

No data available for Pathways by source and SIGNOR curated interactions for ASPRV1 Gene

Drugs & Compounds for ASPRV1 Gene

(1) Drugs for ASPRV1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pepstatin A Pharma Aspartic proteinases inhibitor 0

(1) ApexBio Compounds for ASPRV1 Gene

Compound Action Cas Number
Pepstatin A Aspartic proteinases inhibitor 26305-03-3
genes like me logo Genes that share compounds with ASPRV1: view

Transcripts for ASPRV1 Gene

mRNA/cDNA for ASPRV1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPRV1

Alternative Splicing Database (ASD) splice patterns (SP) for ASPRV1 Gene

No ASD Table

Relevant External Links for ASPRV1 Gene

GeneLoc Exon Structure for
ASPRV1
ECgene alternative splicing isoforms for
ASPRV1

Expression for ASPRV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASPRV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASPRV1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x25.5) and Skin - Not Sun Exposed (Suprapubic) (x16.8).

Protein differential expression in normal tissues from HIPED for ASPRV1 Gene

This gene is overexpressed in Hair follicle (34.5), Oral epithelium (11.6), and Skin (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASPRV1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ASPRV1 Gene:

ASPRV1

SOURCE GeneReport for Unigene cluster for ASPRV1 Gene:

Hs.516253

mRNA Expression by UniProt/SwissProt for ASPRV1 Gene:

Q53RT3-APRV1_HUMAN
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 but almost absent from ulcerated regions. Expressed in differentiated areas of squamous cell carcinomas but not in undifferentiated tumors.

Evidence on tissue expression from TISSUES for ASPRV1 Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with ASPRV1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPRV1 Gene

Orthologs for ASPRV1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ASPRV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASPRV1 33 32
  • 99.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASPRV1 32
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Asprv1 17 33 32
  • 75.05 (n)
dog
(Canis familiaris)
Mammalia ASPRV1 33
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPRV1 33
  • 64 (a)
OneToOne
Species where no ortholog for ASPRV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ASPRV1 Gene

ENSEMBL:
Gene Tree for ASPRV1 (if available)
TreeFam:
Gene Tree for ASPRV1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASPRV1: view image

Paralogs for ASPRV1 Gene

No data available for Paralogs for ASPRV1 Gene

Variants for ASPRV1 Gene

Sequence variations from dbSNP and Humsavar for ASPRV1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs184561703 uncertain-significance, Malignant tumor of prostate 69,961,594(-) G/A coding_sequence_variant, missense_variant
rs1000196811 -- 69,961,885(-) A/G 5_prime_UTR_variant
rs1000739895 -- 69,963,538(-) C/T upstream_transcript_variant
rs1000977115 -- 69,963,277(-) G/A upstream_transcript_variant
rs1001260625 -- 69,964,106(-) G/C upstream_transcript_variant

Variation tolerance for ASPRV1 Gene

Residual Variation Intolerance Score: 64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPRV1 Gene

Human Gene Mutation Database (HGMD)
ASPRV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPRV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ASPRV1 Gene

Disorders for ASPRV1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for ASPRV1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
autotopagnosia
  • body-image agnosia
vestibulocochlear nerve disease
  • acoustic nerve disease
vestibular neuronitis
  • epidemic neurolabyrinthitis
acute endophthalmitis
purulent endophthalmitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ASPRV1

genes like me logo Genes that share disorders with ASPRV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASPRV1 Gene

Publications for ASPRV1 Gene

  1. Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis. (PMID: 16098038) Bernard D … Schmidt R (The Journal of investigative dermatology 2005) 2 3 4 23 56
  2. A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin. (PMID: 16565508) Rhiemeier V … Angel P (The American journal of pathology 2006) 2 3 4 56
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for ASPRV1 Gene

Sources for ASPRV1 Gene