PRSS56 Gene Summary [Human]

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

Details

Type
Protein Coding
Official Symbol
PRSS56
Official Name
serine protease 56 [Source:HGNC Symbol;Acc:HGNC:39433]
Ensembl ID
ENSG00000237412
Bio databases IDs NCBI: 646960 Ensembl: ENSG00000237412
Aliases serine protease 56
Synonyms 1700027L20Rik, LOC100505597, LOC100507993, MCOP6, RGD1563955, serine protease 56
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRSS56 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Trypsin-like serine protease
  • trypsin
  • Tryp_SPc
  • serine endopeptidase
  • peptidase
  • Domain of unknown function (DUF1986)
  • Trypsin-like peptidase domain

Pathways

Biological processes and signaling networks where the PRSS56 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • isolated microphthalmia type 6
  • refractive error
  • progressive vision loss
  • myopia
  • hyperopia
  • microphthalmia
  • posterior microphthalmia
  • angle-closure glaucoma
regulated by
  • EGLN
  • SLC6A4
  • 4,5,6,7-tetrabromo-2-azabenzamidazole

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Endoplasmic Reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PRSS56 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • camera-type eye development
  • proteolysis
  • positive regulation of leukocyte chemotaxis
  • blood coagulation

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • serine-type endopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.