LYST - lysosomal trafficking regulator Gene

Also Known as CHS; CHS1; Mauve

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1130

About LYST

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,661,031-235,883,713 (from NCBI)

This gene has 30 transcripts (splice variants), 200 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 12.2), skin (RPKM 4.6) and 24 other tissues.

Summary

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]

LYST Products (2)

mRNA	Protein	Name
NM_000081.4	NP_000072.2	lysosomal-trafficking regulator
NM_001301365.1	NP_001288294.1	lysosomal-trafficking regulator

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11984006	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endosome to lysosome transport via multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	9606205	GOA
involved in natural killer cell mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	6154765	GOA
involved in pigmentation	IMP IMP: Inferred from mutant phenotype	10648412	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	9606205	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LYST Protein Structure

PH_BEACH

Beach

WD40

0
600
1200
1800
2400
3000
3600
3801 a.a.

Protein Preferred Names	Protein Names
lysosomal-trafficking regulator	Chediak-Higashi syndrome 1

Related Diseases

Diseases	Alias
Chediak-Higashi Syndrome	CHS Chédiak-Higashi Syndrome Chediak - Steinbrinck Anomaly Chediak Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Oculocutaneous Albinism With Leukocyte Defect Chediak-Higashi Disease Chediak-Higashi-Steinbrink Syndrome
Attenuated Chediak-Higashi Syndrome	Atypical Chediak-Higashi Syndrome
Autoinflammatory Syndrome
Spastic Ataxia	Spax Ataxia, Spastic
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Griscelli Syndrome	Chediak-Higashi-Like Syndrome Griscelli-Prunieras Syndrome Partial Albinism-Immunodeficiency Syndrome Griscelli Disease Gs Hypopigmentation Immunodeficiency Disease Partial Albinism With Immunodeficiency Immunodeficiency Syndrome With Hypopigmentation Hypopigmentation-Immunodeficiency Disease
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Lymphoproliferative Syndrome, X-Linked, 2	XLP2 Xiap Deficiency X-Linked Lymphoproliferative Syndrome 2 X-Linked Lymphoproliferative Disease Due To Xiap Deficiency Xiap-Related Lymphoproliferative Disease, X-Linked X-Linked Lymphoproliferative Syndrome Type 2 Xiap Deficiency Syndrome
Griscelli Syndrome, Type 2	Griscelli Syndrome Type 2 GS2 Griscelli Syndrome With Hemophagocytic Syndrome Partial Albinism And Immunodeficiency Syndrome Paid Syndrome Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome Griscelli-Prunieras Syndrome Type 2 Griscelli-Pruniéras Syndrome Type 2 Griscelli Syndrome 2
Spontaneous Ocular Nystagmus	Visual Deprivation Nystagmus Ocular Nystagmus Searching Eye Movements Nystagmus, Pathologic
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Hermansky-Pudlak Syndrome 2	HPS2 Hermansky Pudlak Syndrome 2 Platelet Defects And Oculocutaneous Albinism Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 2 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Ocular Pigment Dispersion With Or Without Glaucoma	Pigment Dispersion Syndrome Glaucoma-Related Pigment Dispersion Syndrome OPDG Pds Glaucoma, Pigment-Dispersion Type Gpds1 Pigment-Dispersion Type Glaucoma Pigment-Dispersion Syndrome Glaucoma, Open-Angle
Hemophagocytic Lymphohistiocytosis	Lymphohistiocytosis, Hemophagocytic Haemophagocytic Syndrome Lymphohistiocytosis Hemophagocytic Hemophagocytic Syndrome Familial Hemophagocytic Lymphocytosis Histiocytoses Of Mononuclear Phagocytes Haemophagocytic Lymphohistiocytosis Nos
Chordoma	CHDM Notochordoma Notochordal Sarcoma Chordoma, Susceptibility To Chordocarcinoma Chordoepithelioma
Hepatic Venoocclusive Disease With Immunodeficiency	VODI Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Hepatic Veno-Occlusive Disease With Immunodeficiency Familial Veno-Occlusive Disease With Immunodeficiency Veno-Occlusive Disease And Immunodeficiency Syndrome Vodi Syndrome Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11 Mddga11 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
Hemophagocytic Lymphohistiocytosis, Familial, 4	Familial Hemophagocytic Lymphohistiocytosis 4 FHL4 Hplh4 Hlh4 Lymphohistiocytosis, Hemophagocytic, Familial, Type 4
Gray Platelet Syndrome	Platelet Alpha-Granule Deficiency GPS Bdplt4 Bleeding Disorder, Platelet-Type, 4 Grey Platelet Syndrome Platelet-Type Bleeding Disorder 4 Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins Deficient Alpha Granule Syndrome Platelet Alpha Granule Deficiency Platelet Granule Defect Alpha Storage Pool Deficiency Bleeding Disorder Platelet-Type 4
Familial Hemophagocytic Lymphohistiocytosis 5	Fhl5 Hlh5 Hplh5 Lymphohistiocytosis, Hemophagocytic, Familial, Type 5
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Albinism, Oculocutaneous, Type Iii	Rufous Oculocutaneous Albinism Oculocutaneous Albinism Type 3 OCA3 Roca Xanthism Oculocutaneous Albinism Type Iii Albinism Iii Oculocutaneous Albinism, Type Iii Albinism 3 Albinism, Oculocutaneous, Type 3 Rufous Oca Red Oculocutaneous Albinism Xanthous Oculocutaneous Albinism Albinism, Oculocutaneous, 3 Oca-Iii
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Papillon-Lefevre Syndrome	Papillon-Lefevre Disease Papillon-Lefèvre Syndrome PLS Keratosis Palmoplantaris With Periodontopathia PALS Papillon Lefevre Syndrome Keratosis Palmoplantar-Periodontopathy Syndrome Papillon-Lefvre Syndrome Hyperkeratosis Palmoplantaris With Periodontosis Keratoris Palmoplantaris With Periodontopathia Keratosis Palmoplantar - Periodontopathy Palmar-Plantar Hyperkeratosis And Concomitant Periodontal Destruction Palmoplantar Keratoderma With Periodontosis Palsy
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07928	LYST Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LYST	VGNC	VGNC:63349
Mus musculus	LYST	MGD	MGI:107448
Macaca mulatta	LYST	VGNC	VGNC:100005
Bos taurus	LYST	VGNC	VGNC:31115
Canis familiaris	LYST	VGNC	VGNC:42899
Rattus norvegicus	LYST	RGD	RGD:621837
Others	LYST	NCBI