TAG for LYST

Gene content

Symbol

LYST ( by HUGO)

Name

Lysosomal Trafficking Regulator

Category

Other

Alias

Lysosomal Trafficking Regulator
CHS1
Chediak-Higashi Syndrome 1
Beige Homolog
CHS
Lysosomal-Trafficking Regulator

Cytogenetic band

NCBI: 1q42.1-q42.2 Ensembl: 1q42.3

Protein information

LYST_HUMAN

Size: 3801 amino acids

Mass: 429139 Da

Subunit: Interacts with CENPJ, LIP8 and ZNF521

Tissue specificity: Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain [IMAGE] Custom PCR Arrays for LYST Primer Products: [IMAGE] OriGene qSTAR qPCR primer pairs in human, mouse for LYST [IMAGE] Pr

Function:

UniProtKB/Swiss-Prot Summary: LYST_HUMAN, Q99698 Function: May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules

Similarity:

Contains 1 BEACH domain

Contains 7 WD repeats [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000409	BEACH_dom	Beige/BEACH	Domain
InterPro	IPR001680	WD40_repeat	WD-40 repeat	Repeat

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	endosome to lysosome transport via multivesicular body sorting pathway	IMP	GOA	9606205
	natural killer cell mediated cytotoxicity	IMP	GOA	10648412
	pigmentation	IMP	GOA	10648412
Cellular Component	microtubule cytoskeleton	IDA	GOA	9606205
Molecular Function	protein binding	IPI	GOA	11984006

Disorder & Mutation
Source	Disease
SWISS-PROT	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). Note=The disease is caused by mutations affecting the gene represented in this entry

LYST cross reference