Aliases for PRSS48 Gene

Aliases for PRSS48 Gene

  • Serine Protease 48 2 3 4 5
  • ESSPL 2 3 4
  • Epidermis-Specific Serine Protease-Like Protein 3 4
  • Protease, Serine 48 2 3
  • Testicular Tissue Protein Li 65 3
  • EC 3.4.21.- 4
  • PRSS48 5

External Ids for PRSS48 Gene

Previous GeneCards Identifiers for PRSS48 Gene

  • GC04P152418
  • GC04P152198
  • GC04P147923

Summaries for PRSS48 Gene

GeneCards Summary for PRSS48 Gene

PRSS48 (Serine Protease 48) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS27.

Additional gene information for PRSS48 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRSS48 Gene

Genomics for PRSS48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRSS48 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
GH04J151276 Enhancer 0.8 Ensembl ENCODE 600.7 +0.7 718 0.8 CTCF REST RAD21 ZNF444 SMC3 YY1 RBM22 SPI1 ZNF654 IKZF5 ENSG00000250350 PRSS48 FAM160A1 SH3D19
GH04J151201 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.5 -71.5 -71482 7.2 GATAD2A TEAD4 REST TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 SP1 SH3D19 PRSS48 ENSG00000250350 RPS3A ENSG00000270681 piR-43325-072 LOC105377485 lnc-LRBA-3
GH04J151250 Enhancer 1 Ensembl ENCODE 17 -24.9 -24881 2.8 GATAD2A SOX13 NFKBIZ RCOR2 ZNF7 PRDM1 RXRB SP1 CEBPA KMT2B PRSS48 FAM160A1 ENSG00000270681 piR-49732-445 lnc-LRBA-3 HE856122 SH3D19 RPS3A
GH04J151284 Enhancer 0.7 Ensembl ENCODE 17.4 +9.0 9018 5.4 CTCF NFE2 FOXA2 RBM22 POLR2A NR2F2 FOXA1 JUN NFE2L2 SP1 PRSS48 FAM160A1 ENSG00000270681 SH3D19 ENSG00000250350 RF00026-830 RNU6-1282P
GH04J151266 Enhancer 0.7 Ensembl 13.4 -9.5 -9481 0.4 GATAD2A RCOR2 RXRB CEBPA SOX13 FOXA2 CREM FOXP1 TBX3 SAP130 lnc-LRBA-3 PRSS48 SH3D19 ENSG00000270681 RPS3A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRSS48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRSS48

Genomic Locations for PRSS48 Gene

Genomic Locations for PRSS48 Gene
chr4:151,276,482-151,291,862
(GRCh38/hg38)
Size:
15,381 bases
Orientation:
Plus strand
chr4:152,198,323-152,212,605
(GRCh37/hg19)
Size:
14,283 bases
Orientation:
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:
    Q7RTY5-PRS48_HUMAN
    Recommended name:
    Serine protease 48
    Protein Accession:
    Q7RTY5
    Secondary Accessions:
    • Q08E82
    • Q0VAD4

    Protein attributes for PRSS48 Gene

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

    Alternative splice isoforms for PRSS48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRSS48 Gene

Post-translational modifications for PRSS48 Gene

  • Glycosylation at Asn263

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

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

Protein Domains for PRSS48 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for PRSS48 Gene

GenScript: Design optimal peptide antigens:
  • Epidermis-specific serine protease-like protein (PRS48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTY5

UniProtKB/Swiss-Prot:

PRS48_HUMAN :
  • Belongs to the peptidase S1 family.
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

Gene Ontology (GO) - Molecular Function for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA 21873635
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

  • Taconic Biosciences Mouse Models for PRSS48

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRSS48

No data available for Molecular function , Phenotypes From GWAS Catalog , 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

Secreted.

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 PRSS48 gene
Compartment Confidence
extracellular 4
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
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

PathCards logo

SuperPathways for PRSS48 Gene

No Data Available

Interacting Proteins for PRSS48 Gene

Gene Ontology (GO) - Biological Process for PRSS48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA 21873635
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

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 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 PRSS48

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

No ASD Table

Relevant External Links for PRSS48 Gene

GeneLoc Exon Structure for
PRSS48

Expression for PRSS48 Gene

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

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRSS48

SOURCE GeneReport for Unigene cluster for PRSS48 Gene:

Hs.651266
genes like me logo Genes that share expression patterns with PRSS48: view

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
Chimpanzee
(Pan troglodytes)
Mammalia PRSS48 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PRSS48 30 31
  • 78.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Prss48 31
  • 60 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PRSS48 31
  • 38 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PRSS48 31
  • 18 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 37 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii zgc:112038 30
  • 52.17 (n)
Species where no ortholog for PRSS48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PRSS48 (if available)
TreeFam:
Gene Tree for PRSS48 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS48: view image

Paralogs for PRSS48 Gene

Pseudogenes.org Pseudogenes for PRSS48 Gene

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

Variants for PRSS48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRSS48 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs13126069 - p.Arg290Cys
rs17027505 - p.Leu118Ser
rs36097019 - p.Cys53Tyr

Additional dbSNP identifiers (rs#s) for PRSS48 Gene

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

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

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)

Additional Variant Information for PRSS48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS48

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

Disorders for PRSS48 Gene

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
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. 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) 23

Products for PRSS48 Gene

Sources for PRSS48 Gene