LYST Gene

Aliases
for LYST gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC01M232151 GC01M233890 GC01M206276

Summaries
for LYST gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for LYST gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10  NT_167186.2  NC_018912.2  

SwitchGear Promoter luciferase reporter plasmids (see all 2): LYST promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LYST

LYST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M235824:  view genomic region     (about GC identifiers)

Proteins
for LYST gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for LYST: NX_Q99698

Explore proteomics data for LYST at MOPED

Post-translational modifications: 

LYST Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for LYST
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	Search GeneTex for Proteins for LYST
	antibodies-online proteins for LYST (2 products)
	Search antibodies-online for peptides for LYST

LYST Antibody Products:

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	antibodies-online antibodies for LYST (2 products)

LYST Assay Products:

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	Cloud-Clone Corp. ELISAs for LYST Cloud-Clone Corp. CLIAs for LYST
	Search eBioscience for ELISAs for LYST
	antibodies-online kits for LYST (6 products)

Domains /
Families
for LYST gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q99698

Find genes that share domains with LYST           About GenesLikeMe

Function
for LYST gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

Selected MGI mutant phenotypes (inferred from 15 alleles) (MGI details for Lyst)

genOway: Develop your customized and physiologically relevant rodent model for LYST

miRNA Products:		miRTarBase miRNAs that target LYST: hsa-mir-92b-3p (MIRT040614), hsa-mir-26a-5p (MIRT050104), hsa-mir-93-5p (MIRT028036), hsa-mir-335-5p (MIRT017524), hsa-mir-193a-3p (MIRT044888)
		Block miRNA regulation of human, mouse, rat LYST using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate LYST (see all 56):
		hsa-miR-26a-2* hsa-miR-3607-3p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-25 hsa-miR-374a
		SwitchGear 3'UTR luciferase reporter plasmid: LYST 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for LYST
		Predesigned siRNA for gene silencing in human, mouse, rat LYST

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for LYST

Clone Products:		OriGene clones in human, mouse for LYST (see all 4) OriGene ORF clones in mouse, rat for LYST OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: LYST (NM_000081)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LYST
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat LYST

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LYST
		Browse ESI BIO Cell Lines and PureStem Progenitors for LYST

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LYST

Localization
for LYST gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytoskeleton	5
cytosol	3
plasma membrane	3
endosome	2
lysosome	2
vacuole	2

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for LYST gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

Drugs & Compounds
for LYST gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for LYST gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for LYST gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LYST expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Blood (Hematopoietic System)    fully expand to see all 2 entries
Granulocytes Peripheral Blood
Thymus (Hematopoietic System)
Double Positive Thymocytes Thymus

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for LYST
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LYST
		QuantiTect SYBR Green Assays in human, mouse, rat LYST
		QuantiFast Probe-based Assays in human, mouse, rat LYST

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LYST

Orthologs
for LYST gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for LYST gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for LYST gene

NSMAF²  NBEAL1²  WDFY4²  LRBA²  NBEA²  WDFY3²  NBEAL2²  

Find genes that share paralogs with LYST           About GenesLikeMe


1 Pseudogenes.org Pseudogene for LYST
PGOHUM00000248355

Genomic Variants
for LYST gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LYST (see all 4433)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs289420771,2,,4	C	Chediak-Higashi syndrome (CHS)4 pathogenic1	206381059(-)	AGAAGA/TCCTTG	2	D V	mis1 ese3		0	--	--	--	--
VAR_0135564		Chediak-Higashi syndrome (CHS)4	--	see VAR_013556	2	R H	mis4		0	--	--	--	--
rs803386571,2	C	pathogenic1	206403555(-)	CTTTCA/GGTATT	2	H R	mis1		0	--	--	--	--
rs803386521,2	C	pathogenic1	206420671(-)	GTATAC/TGACTT	2	R *	stg1		0	--	--	--	--
rs803386511,2	C	pathogenic1	206420896(-)	TTTCTC/TAACCT	2	Q *	stg1		0	--	--	--	--
rs803386431,2	C	pathogenic1	206445113(-)	ATGGTC/TGAGGA	2	R *	stg1		0	--	--	--	--
rs1911659171,2		--	206275653(+)	TGGCTC/TACACC	1	--	ds5001		0	--	--	--	--
rs121393201,2	C,F	--	206275656(+)	ctcacG/Acctgt	1	--	ds5001		4		NA WA CSA	7
rs1814924191,2		--	206275851(+)	AGAATC/TGCTTG	1	--	ds5001		0	--	--	--	--
rs168327721,2	C	--	206276034(+)	CCATCG/AATTTG	1	--	ds5001		3		NA	142

HapMap Linkage Disequilibrium report for LYST (235824341 - 236046940 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for LYST:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2661819	CNV	Deletion	23128226
nsv508701	CNV	Loss	20534489
nsv832936	CNV	Gain	17160897
nsv832947	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): LYST
Locus Specific Mutation Databases (LSDB): LYST

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing LYST

DNA2.0 Custom Variant and Variant Library Synthesis for LYST

Disorders / Diseases
for LYST gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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

4 diseases for LYST:    
About MalaCards

2 Novoseek inferred disease relationships for LYST gene    About this table

Publications
for LYST gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Identification of the homologous beige and Chediak-Higashi syndrome genes. (PubMed id 8717042)^{1, 2, 3, 9} Barbosa M.D.F.S.... Kingsmore S.F. (Nature 1996)
2. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (PubMed id 8896560)^{1, 2, 3} Nagle D.L.... Moore K.J. (Nat. Genet. 1996)
3. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PubMed id 11984006)^{1, 2, 9} Tchernev V.T.... Kingsmore S.F. (Mol. Med. 2002)
4. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. (PubMed id 11857544)^{1, 2, 9} Karim M.A.... Spritz R.A. (Am. J. Med. Genet. 2002)
5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 2006)
6. An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
7. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (PubMed id 9215680)^{1, 2} Barbosa M.D.F.S.... Kingsmore S.F. (Hum. Mol. Genet. 1997)
8. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. (PubMed id 15896657)^{1, 9} Zarzour W....Gahl W.A. (Mol. Genet. Metab. 2005)
9. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. (PubMed id 10482950)^{1, 9} Dufourcq-Lagelouse R....de Saint Basile G. (Eur. J. Hum. Genet. 1999)
10. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. (PubMed id 10648412)^{1, 9} Certain S....de Saint Basile G. (Blood 2000)

External Searches for LYST gene

Genome Databases showing LYST gene

Other Databases showing LYST gene

Specialized Databases showing LYST gene

Products
for LYST gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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