Free for academic non-profit institutions. Other users need a Commercial license

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

GeneCards Summary for ASPRV1 Gene

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1) is a Protein Coding gene. GO annotations related to this gene include aspartic-type endopeptidase activity.

No data available for Entrez Gene 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
GH02F070002 0.5 FANTOM5 Ensembl 29 -40.3 -40336 0.8 ZNF263 SCRT1 PKNOX1 ZNF341 ADNP ZNF24 SPI1 ASPRV1 MXD1 PCBP1-AS1 PCBP1 GMCL1 PIR47967 RN7SL470P
GH02F069931 1.5 FANTOM5 Ensembl ENCODE 26.9 +28.4 28430 4.9 PKNOX1 ATF1 ARNT MLX ARID4B DMAP1 FOS SP5 JUNB NCOA1 MXD1 SNRNP27 ASPRV1 PCBP1 PCBP1-AS1 GMCL1 C2orf42 PIR33848 ENSG00000279229
GH02F069999 0.6 FANTOM5 24.5 -37.6 -37595 0.2 KLF1 KLF17 ZFHX2 FOS EGR2 SMARCA5 SMARCE1 SP3 ZBTB2 NR2F1 ASPRV1 MXD1 PCBP1 GMCL1 PIR47967 RN7SL470P
GH02F069926 1.4 FANTOM5 Ensembl ENCODE 21.9 +35.0 35008 0.8 RAD21 RARA YY1 CREM THAP11 USF2 CEBPB KAT8 SSRP1 ATF4 SNRNP27 MXD1 ASPRV1 PCBP1 GMCL1 PIR33848 ENSG00000279229
GH02F069911 1.3 FANTOM5 ENCODE 20.8 +46.9 46927 7.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SNRNP27 MXD1 ASPRV1 PCBP1 PCYOX1 PCBP1-AS1 GMCL1 ENSG00000279229 PIR33848
- Elite enhancer/Elite enhancer-gene association Download Table
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 Asn 276
  • 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

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

Q53RT3

UniProtKB/Swiss-Prot:

APRV1_HUMAN :
  • Contains 1 peptidase A2 domain.
Domain:
  • Contains 1 peptidase A2 domain.
genes like me logo Genes that share domains with ASPRV1: view

No data available for Gene Families for ASPRV1 Gene

Function for ASPRV1 Gene

Enzyme Numbers (IUBMB) 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

miRNA for ASPRV1 Gene

miRTarBase miRNAs that target ASPRV1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for ASPRV1 Gene COMPARTMENTS Subcellular localization image for ASPRV1 gene
Compartment Confidence
endoplasmic reticulum 2
nucleus 2
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 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

Pathways & Interactions for ASPRV1 Gene

SuperPathways for ASPRV1 Gene

No Data Available

Interacting Proteins for ASPRV1 Gene

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 16098038
GO:0043588 skin development ISS --
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 where relevant :

Unigene Clusters for ASPRV1 Gene

Aspartic peptidase, retroviral-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with ASPRV1: view

Primer Products

No data available for Protein tissue co-expression partners 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 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia ASPRV1 34
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Asprv1 34 16 35
  • 75.05 (n)
dog
(Canis familiaris)
Mammalia ASPRV1 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPRV1 35
  • 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
rs10203732 -- 69,964,228(+) AAGCC(C/T)ACCTT intron-variant, upstream-variant-2KB
rs111808883 -- 69,962,200(+) TGAGG(-/ACACAC)ACACA intron-variant, cds-indel
rs111819900 -- 69,960,934(+) GGATC(C/T)TCATT reference, missense
rs114182672 -- 69,961,071(+) CTCAC(A/G)GGCAC reference, synonymous-codon

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

Relevant External Links for ASPRV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASPRV1

No disorders were found for ASPRV1 Gene.

No data available for MalaCards , 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. (J. Invest. Dermatol. 2005) 2 3 4 22 64
  2. A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin. (PMID: 16565508) Rhiemeier V. … Angel P. (Am. J. Pathol. 2006) 2 3 4 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ASPRV1 Gene

Sources for ASPRV1 Gene

Content
Loading form....