PCSK6 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. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]

Details

Type
Processed Transcript
Official Symbol
PCSK6
Official Name
proprotein convertase subtilisin/kexin type 6 [Source:HGNC Symbol;Acc:HGNC:8569]
Ensembl ID
ENSG00000140479
Bio databases IDs NCBI: 5046 Ensembl: ENSG00000140479
Aliases proprotein convertase subtilisin/kexin type 6, subtilisin-like protease, subtilisin-like proprotein convertase 4, subtilisin/kexin-like protease PACE4
Synonyms b2b2830Clo, PACE4, PAIRED BASIC AMINO ACID CLEAVING ENZYME 4, proprotein convertase subtilisin/kexin type 6, SPC4
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 PCSK6 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 S8 pro-domain
  • Giardia variant-specific surface protein
  • Growth factor receptor domain IV
  • Subtilase family
  • peptidase
  • PLAC (protease and lacunin) domain
  • protein binding
  • Tumor necrosis factor receptor superfamily (TNFRSF)
  • Peptidase domain in the S8 and S53 families
  • FU
  • endopeptidase
  • serine endopeptidase
  • Proprotein convertase P-domain
  • Furin-like repeat, cysteine-rich
  • Furin-like repeats
  • pro domain
  • heparin binding
  • growth factor binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-insulin-dependent diabetes mellitus
  • major depression
  • hypertension
  • neoplasia
  • cancer
  • epithelial cancer
  • epithelial neoplasia
  • COVID-19
  • breast cancer
  • glioblastoma
regulated by
role in cell
  • proliferation
  • cell viability
  • molecular cleavage in
  • disruption
  • invasiveness
  • migratory capacity
  • processing in
  • activation in
  • motility
  • conversion

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
  • Golgi lumen
  • cell surface
  • Plasma Membrane
  • extracellular matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PCSK6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • nerve growth factor production
  • glycoprotein metabolic process
  • plasma lipoprotein particle remodeling
  • protein processing
  • peptide hormone processing
  • zygotic determination of anterior/posterior axis, embryo
  • regulation of BMP signaling pathway
  • secretion by cell
  • determination of left/right symmetry

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • membrane
  • endoplasmic reticulum
  • Golgi lumen
  • extracellular region
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • endopeptidase activity
  • serine-type endopeptidase activity
  • heparin binding
  • nerve growth factor binding

Gene-Specific Assays for Results You Can Trust

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