InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LYST

Summary

InnateDB Protein

IDBP-107574.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LYST

Protein Name

lysosomal trafficking regulator

Synonyms

CHS; CHS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000374443

InnateDB Gene

IDBG-107566 (LYST)

Protein Structure

UniProt Annotation

Function

May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

Chediak-Higashi syndrome (CHS) [MIM:214500]: 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). {ECO:0000269PubMed:11857544}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0002446	neutrophil mediated immunity
GO:0002456	T cell mediated immunity
GO:0006644	phospholipid metabolic process
GO:0007017	microtubule-based process
GO:0007040	lysosome organization
GO:0007596	blood coagulation
GO:0030595	leukocyte chemotaxis
GO:0032438	melanosome organization
GO:0032510	endosome to lysosome transport via multivesicular body sorting pathway
GO:0032816	positive regulation of natural killer cell activation
GO:0033299	secretion of lysosomal enzymes
GO:0033364	mast cell secretory granule organization
GO:0042267	natural killer cell mediated cytotoxicity
GO:0042493	response to drug
GO:0042742	defense response to bacterium
GO:0042832	defense response to protozoan
GO:0043473	pigmentation
GO:0048753	pigment granule organization
GO:0051607	defense response to virus
GO:0055091	phospholipid homeostasis