LYST

LYST is a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder., though the full-length nature of some of these variants has not been determined.

Full Name

lysosomal trafficking regulator

Function

Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107).
Might regulate trafficking of effectors involved in exocytosis (PubMed:25425525).
In cytotoxic T-cells and natural killer (NK) cells, has role in the regulation of size, number and exocytosis of lytic granules (PubMed:26478006).
In macrophages and dendritic cells, regulates phagosome maturation by controlling the conversion of early phagosomal compartments into late phagosomes (By similarity).
In macrophages and dendritic cells, specifically involved in TLR3- and TLR4-induced production of pro-inflammatory cytokines by regulating the endosomal TLR3- TICAM1/TRIF and TLR4- TICAM1/TRIF signaling pathways (PubMed:27881733).

Biological Process

Defense response to bacteriumISS:UniProtKB
Defense response to protozoanISS:UniProtKB
Defense response to virusISS:UniProtKB
Endosome to lysosome transport via multivesicular body sorting pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Leukocyte chemotaxisISS:UniProtKB
Lysosome organizationIEA:InterPro
Mast cell secretory granule organizationISS:UniProtKB
Melanosome organizationISS:UniProtKB
Natural killer cell mediated cytotoxicityManual Assertion Based On ExperimentIMP:UniProtKB
PhagocytosisIEA:UniProtKB-KW
PigmentationManual Assertion Based On ExperimentIMP:UniProtKB
Protein localizationManual Assertion Based On ExperimentIBA:GO_Central
Protein transportIEA:UniProtKB-KW

Cellular Location

Cytoplasm

Involvement in disease

Chediak-Higashi syndrome (CHS):
A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).