VPS45 gene

vacuolar protein sorting 45 homolog

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

From UniProt:

May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.

From NCBI Gene:

  • Severe congenital neutropenia 5, autosomal recessive

From UniProt:

Neutropenia, severe congenital 5, autosomal recessive (SCN5): An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. [MIM:615285]

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2

Molecular Location: base pairs 150,067,293 to 150,145,327 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2
  • H1
  • H1VPS45
  • SCN5
  • VPS45A
  • VPS45B
  • VPS54A
  • VSP45
  • VSP45A