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FLASH GENE

Symbol

LYST

contributors: shn/npt - updated : 10-12-2009

HGNC name	lysosomal trafficking regulator
HGNC id	1968

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHS1 Chediak-Higashi syndrome
Location	1q42.3      Physical location : 235.824.344 - 236.030.220
Synonym name	putative lysosomal associated membrane protein
	lysosomal-trafficking regulator
	beige protein
Synonym symbol(s)	CHS, CHS1

DNA

TYPE	functioning gene
STRUCTURE	205.88 kb     53 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D1S2712 - D1S2649 - LYST1 - D1S2680 - D1S2850 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000081 53 - 13493 NP_000072 429 3801 - Zhang 2010)

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive mouth tongue     highly Endocrine thyroid       highly Lymphoid/Immune spleen       highly Skin/Tegument skin       highly Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Epithelial         Muscular striatum cardiac     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Blood/Hematopoietic platelet Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	extended hydrophobic helical domain with the ARM and HEAT motifs
	a pleckstrin homology (PH) domain
	seven WD-40 repeats in C-terminal region
	a BEACH domain
	a region with homology to the coiled-coil phosphoprotein stathmin

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to Lyst, Mus musculus
	ortholog to Lyst, rattus norvegicus
	ortholog to LYST, Pan troglodytes
	ortholog to lyst, Danio rerio

Homologene

FAMILY

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	regulating intracellular protein trafficking to and from the lysosome
	required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules (Faigle 1998)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	SNARE-complex protein HRS
	14-3-3, and Casein kinase II beta-subunit
	Troponin I
	Hepatocyte growth factor–regulated tyrosine kinase substrate (HRS)
	Cterminus of calmodulin (CALM)
	C-terminal half of a steroid hormone receptor, estrogen receptor-related protein (ERR1)
	C-terminal halves of the importin beta-subunit, imogen 38, and norbin
	DiGeorge syndrome critical region gene 14 (DGS-I)
	LIP1-LIP9
	atrophin-1
	embryonic Fyn substrate-1 (EFS1)
	the N-terminus of OPA-containing protein heterogeneous nuclear riboprotein M4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHS1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mutation in beige gene, a homologue of the gene for the human disorder Chediak-Higashi syndrome, in mouse results in hypopigmentation, bleeding and immune cell dysfunction (Perou 1996)
	murine mutant Lyst allele (bg-grey) found in an ENU mutation screen exhibits melanosomes of melanocytes associated with hair follicles and the choroid layer of the eye and melanosomes in the neural tube-derived pigment epithelium of the retina. Secretory vesicles in dermal mast cells of the mutant skin were enlarged. Double heterozygotes (Lyst(bg)/Lyst(bg-grey)) were phenotypically indistinguishable from either homozygous Lyst(bg) or Lyst(bg-grey) (Runkel 2006)
	Lyst mutant mice uniformly exhibit exfoliation syndrome-like transillumination defects : sawtooth morphology of the iris pigment epithelium, produce an exfoliative-like material and pronounced pigment dispersion (Trantow 2009)