PITRM1 Gene Summary [Human]

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]

Details

Type
Processed Transcript
Official Symbol
PITRM1
Official Name
pitrilysin metallopeptidase 1 [Source:HGNC Symbol;Acc:HGNC:17663]
Ensembl ID
ENSG00000107959
Bio databases IDs NCBI: 10531 Ensembl: ENSG00000107959
Aliases pitrilysin metallopeptidase 1, PreP peptidasome, presequence protease, mitochondrial
Synonyms 2310012C15Rik, mKIAA1104, MP-1, Ntup1, pitrilysin metallepetidase 1, pitrilysin metallopeptidase 1, PreP, SCAR30
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 PITRM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • metallopeptidase
  • Peptidase M16C associated
  • zinc ion binding
  • peptidase
  • protein binding
  • Peptidase M16 inactive domain
  • enzyme activator activity
  • metalloendopeptidase

Pathways

Biological processes and signaling networks where the PITRM1 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
  • infantile-onset spinocerebellar ataxia
  • autosomal recessive spinocerebellar ataxia type 30
regulated by
regulates
role in cell
  • expression in

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
  • Mitochondria
  • mitochondrial matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PITRM1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein targeting to mitochondrion
  • proteolysis
  • protein processing

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • mitochondrion

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • enzyme activator activity
  • metalloendopeptidase activity
  • metallopeptidase 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.