PRSS12 Gene Summary [Human]

This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]

Details

Type
Protein Coding
Official Symbol
PRSS12
Official Name
serine protease 12 [Source:HGNC Symbol;Acc:HGNC:9477]
Ensembl ID
ENSG00000164099
Bio databases IDs NCBI: 8492 Ensembl: ENSG00000164099
Aliases serine protease 12, neurotrypsin, motopsin, brain-specific serine protease 3, mental retardation, autosomal recessive 1
Synonyms BSSP-3, motopsin, MRT1, NEUROTRYPSIN, Nt, serine protease 12, serine protease 12 neurotrypsin (motopsin)
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 PRSS12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Scavenger receptor cysteine-rich domain
  • KR
  • Trypsin-like serine protease
  • serine endopeptidase
  • trypsin
  • Tryp_SPc
  • serine-type peptidase
  • peptidase
  • Scavenger receptor Cys-rich

Pathways

Biological processes and signaling networks where the PRSS12 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
  • Alzheimer disease
  • autosomal recessive mental retardation type 1
  • nonsyndromic mental retardation
  • insomnia
  • sarcopenia
  • congenital heart disease
regulated by
  • NKX2-3
  • Ca2+
  • glycocholic acid
  • glycodeoxycholic acid
  • taurochenodeoxycholate
  • taurodeoxycholic acid
  • taurocholic acid
  • glycochenodeoxycholate
  • WNT5A
  • 1,2-dimethylhydrazine
regulates
role in cell
  • quantity
  • function
  • exocytosis by
  • thickness
  • branching
  • centralization in
  • grouping
  • centralization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • glutaminergic synapse
  • presynaptic regions
  • Plasma Membrane
  • synapse
  • cytoplasmic vesicles
  • axons
  • dendrites
  • axon terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PRSS12 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • zymogen activation
  • exocytosis

Cellular Component

Where in the cell the gene product is active
  • dendrite
  • synaptic cleft
  • terminal button
  • cytoplasmic vesicle
  • axon
  • plasma membrane

Molecular Function

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