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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
  • Skin ASpartic Protease 2 4
  • SASPase 3 4
  • Taps 3 4
  • SASP 3 4
  • Retroviral-Like Aspartic Protease 1 3
  • Skin Aspartic Protease 3
  • EC 3.4.23.- 4
  • MUNO 3

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 Retinitis Pigmentosa 41 and Atrichia With Papular Lesions. 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPRV1 Gene

Genomics for ASPRV1 Gene

Regulatory Elements for ASPRV1 Gene

Enhancers for ASPRV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H069931 1.9 FANTOM5 Ensembl ENCODE dbSUPER 26.9 +28.3 28330 4 PKNOX1 FOXA2 ATF1 MLX ARNT ARID4B DMAP1 FOS ATF7 RUNX3 MXD1 SNRNP27 ASPRV1 PCBP1 PCBP1-AS1 GMCL1 C2orf42 PIR33848
GH02H069911 2 FANTOM5 Ensembl ENCODE dbSUPER 20.8 +46.9 46927 7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SNRNP27 MXD1 ASPRV1 TIA1 PCBP1-AS1 GMCL1 PCBP1 PIR33848
GH02H069926 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +35.0 35008 0 FOXA2 RAD21 RARA YY1 ATF7 CREM THAP11 USF2 CEBPB KAT8 SNRNP27 MXD1 ASPRV1 PCBP1 GMCL1 PIR33848
GH02H070067 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.3 -107.3 -107290 4 HDGF PKNOX1 ATF1 FOXA2 SIN3A ARID4B YY1 ZNF766 ZNF143 ATF7 MXD1 ASPRV1 PCBP1-AS1 C2orf42 SNRNP27 PCBP1 GMCL1 RN7SL470P PIR47967
GH02H069945 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +15.3 15333 4 PKNOX1 FOXA2 ATF1 ELK1 FOS RUNX3 DEK SP5 NCOA1 REST MXD1 SNRNP27 ASPRV1 TIA1 PCBP1 GMCL1 SNRPG PIR33848
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASPRV1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASPRV1 Gene

Chromosome:
2
Start:
69,960,089 bp from pter
End:
69,962,265 bp from pter
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):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ASPRV1 Gene

Suggested Antigen Peptide Sequences for ASPRV1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

MGI mutant phenotypes for ASPRV1:
inferred from 1 alleles
GenomeRNAi human phenotypes for ASPRV1:
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

Clone Products

  • Applied Biological Materials Clones for ASPRV1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
nucleus 3
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

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

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 IEA,IDA 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

Drug Products

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 where relevant :

Unigene Clusters for ASPRV1 Gene

Aspartic peptidase, retroviral-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASPRV1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 34 33
  • 99.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASPRV1 33
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Asprv1 34 16 33
  • 75.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASPRV1 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPRV1 34
  • 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)

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 Sequence Context AA Info Type
rs184561703 Uncertain significance 69,961,594(+) CGGTC(A/G)GCTGG reference, missense
rs1000196811 -- 69,961,885(+) AACAG(A/G)TGAGG intron-variant, utr-variant-5-prime
rs1000739895 -- 69,963,538(+) GCGAC(C/T)AAGGG intron-variant, upstream-variant-2KB
rs1000977115 -- 69,963,277(+) TCACC(A/G)AGAAG nc-transcript-variant, upstream-variant-2KB
rs1001260625 -- 69,964,106(+) CCTTG(C/G)TCACA intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 41
  • rp41
atrichia with papular lesions
  • apl
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ASPRV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 60
  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 60
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for ASPRV1 Gene

Sources for ASPRV1 Gene

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