Human Gene PRSS48 (uc011cif.2)
  Description: Homo sapiens protease, serine, 48 (PRSS48), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr4:152,198,325-152,212,605 Size: 14,281 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr4:152,198,325-152,212,605 Size: 14,281 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:152,198,325-152,212,605)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkHGNC
HPRDLynxMGIneXtProtPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRS48_HUMAN
DESCRIPTION: RecName: Full=Serine protease 48; EC=3.4.21.-; AltName: Full=Epidermis-specific serine protease-like protein; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 peptidase S1 domain.
SEQUENCE CAUTION: Sequence=CAD67963.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.61 RPKM in Testis
Total median expression: 1.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin
PF09342 - Domain of unknown function (DUF1986)

SCOP Domains:
50494 - Trypsin-like serine proteases

ModBase Predicted Comparative 3D Structure on Q7RTY5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  KJ900655 - Synthetic construct Homo sapiens clone ccsbBroadEn_10049 PRSS48 gene, encodes complete protein.
BC121109 - Homo sapiens epidermis-specific serine protease-like protein, mRNA (cDNA clone MGC:150407 IMAGE:40120369), complete cds.
BC121110 - Homo sapiens epidermis-specific serine protease-like protein, mRNA (cDNA clone MGC:150408 IMAGE:40120371), complete cds.
HM005378 - Homo sapiens clone HTL-T-65 testicular tissue protein Li 65 mRNA, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: ESSPL, NM_183375, NP_899231, PRS48_HUMAN, Q08E82, Q0VAD4, Q7RTY5
UCSC ID: uc011cif.2
RefSeq Accession: NM_183375
Protein: Q7RTY5 (aka PRS48_HUMAN)
CCDS: CCDS47145.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_183375.2
exon count: 5CDS single in 3' UTR: no RNA size: 987
ORF size: 987CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2174.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.