InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-107572

lysosomal trafficking regulator

IDBP-107574

lysosomal trafficking regulator

IDBP-481744

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

ENSMUSG00000019726

View Gene Order

ENSBTAG00000016804

Not yet available

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