PCSK7 Gene Summary [Human]

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]

Details

Type
Protein Coding
Official Symbol
PCSK7
Official Name
proprotein convertase subtilisin/kexin type 7 [Source:HGNC Symbol;Acc:HGNC:8748]
Ensembl ID
ENSG00000160613
Bio databases IDs NCBI: 9159 Ensembl: ENSG00000160613
Aliases proprotein convertase subtilisin/kexin type 7
Synonyms LPC, PC7, PC8, proprotein convertase subtilisin/kexin type 7, SPC7
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 PCSK7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Peptidase domain in the S8 and S53 families
  • type VII secretion-associated serine protease mycosin
  • Peptidase S8 pro-domain
  • serine endopeptidase
  • cytoplasmic domain
  • stalk region
  • Subtilase family
  • peptidase
  • transmembrane domain
  • Proprotein convertase P-domain
  • protein binding
  • pro domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • metabolic syndrome X
  • breast carcinoma
  • mammary neoplasm
  • lung cancer
  • abdominal aortic aneurysm
  • carotid atherosclerosis
  • hypothyroidism
  • autosomal dominant polycystic kidney disease
regulated by
regulates
role in cell
  • molecular cleavage in
  • replication in
  • maturation 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
  • cytosol
  • endoplasmic reticulum lumen
  • Golgi membrane
  • trans Golgi network

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PCSK7 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein processing
  • peptide hormone processing

Cellular Component

Where in the cell the gene product is active
  • trans-Golgi network
  • Golgi membrane

Molecular Function

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