LYST (lysosomal trafficking regulator)

2016-10-01 Affiliation

Identity

HGNC

LYST

LOCATION

1q42.3

LOCUSID

1130

ALIAS

CHS,CHS1,Mauve

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1130
MIM: 606897
HGNC: 1968
Ensembl: ENSG00000143669

Variants:

dbSNP: 1130
ClinVar: 1130
TCGA: ENSG00000143669
COSMIC: LYST

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000143669	ENST00000389793	Q99698
ENSG00000143669	ENST00000389794	A0A0A0MRZ6
ENSG00000143669	ENST00000487530	H7C4F5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
18043242	2008	Chediak-Higashi syndrome.	79
20463881	2010	Digital quantification of human eye color highlights genetic association of three new loci.	52
11857544	2002	Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.	40
11984006	2002	The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.	33
25425525	2015	LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.	17
12753649	2003	Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes.	15
15896657	2005	Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.	15
26478006	2016	Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.	11
25216107	2014	LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis.	9
29026114	2017	The driver landscape of sporadic chordoma.	9

Citation

Dessen P

LYST (lysosomal trafficking regulator)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56541/lyst