Homo sapiens Gene: LYST
Summary
InnateDB Gene IDBG-107566.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LYST
Gene Name lysosomal trafficking regulator
Synonyms CHS; CHS1;
Species Homo sapiens
Ensembl Gene ENSG00000143669
Encoded Proteins
lysosomal trafficking regulator
lysosomal trafficking regulator
lysosomal trafficking regulator
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
This gene encodes 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. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:235661041-235883640
Strand Reverse strand
Band q42.3
Transcripts
ENST00000389794 ENSP00000374444
ENST00000389793 ENSP00000374443
ENST00000473037
ENST00000462376
ENST00000475277
ENST00000461526
ENST00000487530 ENSP00000417168
ENST00000489585
ENST00000492844
ENST00000465349
ENST00000468107
ENST00000468626
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
Cellular Component
GO:0005829 cytosol
GO:0015630 microtubule cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.532411
RefSeq NM_000081 NM_001301365 XM_005273027 XM_005273029 XM_006711731
HUGO
OMIM
CCDS CCDS31062
HPRD 06060
IMGT
EMBL
GenPept
RNA Seq Atlas