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Aliases for PRSS48 Gene

Aliases for PRSS48 Gene

  • Protease, Serine 48 2 3 5
  • Epidermis-Specific Serine Protease-Like Protein 3 4
  • ESSPL 3 4
  • Testicular Tissue Protein Li 65 3
  • Serine Protease 48 3
  • EC 3.4.21.- 4

External Ids for PRSS48 Gene

Previous GeneCards Identifiers for PRSS48 Gene

  • GC04P152418
  • GC04P152198
  • GC04P147923

Summaries for PRSS48 Gene

GeneCards Summary for PRSS48 Gene

PRSS48 (Protease, Serine 48) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS8.

Additional gene information for PRSS48 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS48 Gene

Genomics for PRSS48 Gene

Regulatory Elements for PRSS48 Gene

Enhancers for PRSS48 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
GH04H151206 1 Ensembl ENCODE dbSUPER 11.1 -69.5 -69507 2 ELF3 HNF4A NR2F2 SH3D19 PRSS48 ENSG00000250350 RPS3A ENSG00000270681 GC04M151175 ENSG00000249012
GH04H151312 0.9 Ensembl ENCODE 11.4 +38.4 38392 5.2 SAP130 JUN ZNF10 CEBPG EP300 ZNF781 JUND GATA3 ATF3 CEBPA FAM160A1 ENSG00000250350 PRSS48 GATB ENSG00000251455 GC04P151316 RNU6-1282P
GH04H151250 0.5 ENCODE 16.9 -25.6 -25630 1.3 ZSCAN16 DMAP1 HNF4A REST PRDM1 PRSS48 FAM160A1 ENSG00000249012 GC04M151175
GH04H151184 0.7 Ensembl ENCODE 6.6 -91.7 -91706 1 JUND HNF4A PRSS48 GC04M151175 ENSG00000249012
GH04H151214 0.6 dbSUPER 6.6 -59.5 -59461 5 TAL1 ZIC2 NR2F2 TCF12 JUND NFIC NCOR1 ZNF585B IKZF1 FOS ENSG00000270681 PRSS48 SH3D19 GC04M151175 ENSG00000249012
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRSS48 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRSS48 Gene

Genomic Locations for PRSS48 Gene
14,833 bases
Plus strand

Genomic View for PRSS48 Gene

Genes around PRSS48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS48 Gene

Proteins for PRSS48 Gene

  • Protein details for PRSS48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine protease 48
    Protein Accession:
    Secondary Accessions:
    • Q08E82
    • Q0VAD4

    Protein attributes for PRSS48 Gene

    328 amino acids
    Molecular mass:
    35970 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAD67963.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRSS48 Gene


neXtProt entry for PRSS48 Gene

Post-translational modifications for PRSS48 Gene

Other Protein References for PRSS48 Gene

No data available for DME Specific Peptides for PRSS48 Gene

Domains & Families for PRSS48 Gene

Gene Families for PRSS48 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PRSS48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS48: view

Function for PRSS48 Gene

Enzyme Numbers (IUBMB) for PRSS48 Gene

Phenotypes From GWAS Catalog for PRSS48 Gene

Gene Ontology (GO) - Molecular Function for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS48: view
genes like me logo Genes that share phenotypes with PRSS48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS48 Gene

Localization for PRSS48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS48 Gene


Subcellular locations from

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 PRSS48 gene
Compartment Confidence
extracellular 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PRSS48: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRSS48 Gene

Pathways & Interactions for PRSS48 Gene

SuperPathways for PRSS48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PRSS48: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS48 Gene

Drugs & Compounds for PRSS48 Gene

No Compound Related Data Available

Transcripts for PRSS48 Gene

mRNA/cDNA for PRSS48 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRSS48 Gene

Protease, serine, 48:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS48 Gene

No ASD Table

Relevant External Links for PRSS48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRSS48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRSS48 Gene

mRNA differential expression in normal tissues according to GTEx for PRSS48 Gene

This gene is overexpressed in Testis (x14.0).

NURSA nuclear receptor signaling pathways regulating expression of PRSS48 Gene:


SOURCE GeneReport for Unigene cluster for PRSS48 Gene:

genes like me logo Genes that share expression patterns with PRSS48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS48 Gene

Orthologs for PRSS48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRSS48 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRSS48 34
  • 92 (a)
(Canis familiaris)
Mammalia PRSS48 33 34
  • 78.62 (n)
(Mus musculus)
Mammalia Prss48 34
  • 60 (a)
(Monodelphis domestica)
Mammalia PRSS48 34
  • 38 (a)
(Bos Taurus)
Mammalia PRSS48 34
  • 18 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
-- 34
  • 37 (a)
(Danio rerio)
Actinopterygii zgc:112038 33
  • 52.17 (n)
Species where no ortholog for PRSS48 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)
  • 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)

Evolution for PRSS48 Gene

Gene Tree for PRSS48 (if available)
Gene Tree for PRSS48 (if available)

Paralogs for PRSS48 Gene Pseudogenes for PRSS48 Gene

genes like me logo Genes that share paralogs with PRSS48: view

Variants for PRSS48 Gene

Sequence variations from dbSNP and Humsavar for PRSS48 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000111475 -- 151,280,450(+) GCCAC(A/G)TGAGA intron-variant
rs1000137564 -- 151,280,396(+) CAGTA(A/C)GATGA intron-variant
rs1000215090 -- 151,288,176(+) ACTTC(A/G)TGGTA intron-variant
rs1000474135 -- 151,278,754(+) GCCTC(C/T)CAAGT intron-variant, upstream-variant-2KB
rs1000526165 -- 151,278,459(+) AAAAA(A/G)AAAAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PRSS48 Gene

Variant ID Type Subtype PubMed ID
nsv473054 CNV novel sequence insertion 20440878
nsv1142408 CNV tandem duplication 24896259
nsv1028814 CNV gain 25217958
esv3602679 CNV loss 21293372
esv1380112 CNV insertion 17803354
esv1003225 CNV insertion 20482838

Variation tolerance for PRSS48 Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.97; 97.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRSS48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS48 Gene

Disorders for PRSS48 Gene

Relevant External Links for PRSS48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for PRSS48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRSS48 Gene

Publications for PRSS48 Gene

  1. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  4. Scarface, a secreted serine protease-like protein, regulates polarized localization of laminin A at the basement membrane of the Drosophila embryo. (PMID: 20379222) Sorrosal G … Milán M (EMBO reports 2010) 22 60
  5. Serine proteases. (PMID: 19180666) Di Cera E (IUBMB life 2009) 3 60

Products for PRSS48 Gene

Sources for PRSS48 Gene

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