InnateDB Protein
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IDBP-107572.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LYST
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Protein Name
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lysosomal trafficking regulator
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Synonyms
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CHS; CHS1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000374444
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InnateDB Gene
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IDBG-107566 (LYST)
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Protein Structure
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Function |
May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.
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Subcellular Localization |
Cytoplasm {ECO:0000305}.
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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.
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Tissue Specificity |
Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
24
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q99698
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PhosphoSite |
PhosphoSite-Q99698
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TrEMBL |
F5H074
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UniProt Splice Variant |
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Entrez Gene |
1130
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UniGene |
Hs.532411
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RefSeq |
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HUGO |
HGNC:1968
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OMIM |
606897
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CCDS |
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HPRD |
06060
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IMGT |
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EMBL |
AL121997
AL133286
AL390765
L77889
U67615
U70064
U72192
U84744
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GenPept |
AAB39697
AAB41309
AAB41533
AAB51608
AAB87737
CAI14952
CAI18987
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