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Aliases & Descriptions for LYST
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CHS 1, 2, 3 | | CHS1 2, 3, 5 | | OTTHUMP00000059294 2 |
| | | Descriptions |
|---|
| Beige homolog 3 | | Chediak-Higashi syndrome 1 1, 2 | | beige protein 2 | | lysosomal trafficking regulator 2 |
|
| | Search outside databases for aliases for LYST genePrevious GC identifer: GC01M232151 |
Summaries for LYST(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for LYST: This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq] UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698Function: May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules |
Genomic Location for LYST
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the LYST gene 
Entrez Gene cytogenetic band: 1q42.1-q42.2 Ensembl cytogenetic band: 1q42.3 HGNC cytogenetic band: 1q42.1-q42.2LYST Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M233890:
(about GC identifiers)
Start:
|
233,890,964 bp from pter |
End:
|
234,096,843 bp from pter |
Size:
|
205,880 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004836.17
| Proteins for LYST
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698 (See
protein sequence)Recommended Name: Lysosomal-trafficking regulator Size: 3801 amino acids; 429139 Da
Subunit: Interacts with CENPJ, LIP8 and ZNF521
Subcellular location: Cytoplasm (Potential)
Secondary accessions: O43274 Q5T2U9 Q96TD7 Q96TD8 Q99709 Q9H133Alternative splicing: 3 isoforms: Q99698-1 Q99698-2 Q99698-3 (Additional isoforms seem to exist)Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000072.2
ENSEMBL proteins: ENSP00000374443 ENSP00000374444
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for LYST: Assays for LYST: | Protein
Domains/ Families for LYST(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q99698
ProtoNet protein and cluster: Q99698 1 Blocks protein family: IPB000409 Beige/BEACH domain
UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698Similarity: Contains 1 BEACH domainSimilarity: Contains 7 WD repeats | Gene Function for LYST
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001005736
Applied Biosystems Silencer® siRNAs for LYST
Sigma-Aldrich siRNA for LYST  Sigma-Aldrich shRNA Panels and shRNA for LYST  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000081                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000081                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000081 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000081
UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698Function: May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubulesGenatlas biochemistry entry for LYST:putative lysosomal associated membrane protein,intracellular trafficking regulator,with two alternatively spliced isoforms,homologous to mouse beige and yeast VPS1514 MGI mutant phenotypes (inferred from 15 alleles ) (MGI details for Lyst):
1 Gene Ontology (GO) molecular function term (links to tree view): About this table | Pathways & Interactions for LYST
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| --5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015031 | protein transport |
IEA | -- | | GO:0030595 | leukocyte chemotaxis |
ISS | -- | | GO:0032438 | melanosome organization |
ISS | -- | | GO:0032510 | endosome to lysosome transport via multivesicular body sorting pathway |
IMP | 9606205 | | GO:0033364 | mast cell secretory granule organization |
ISS | -- | About this table
|
Drugs & Compounds for LYST(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for LYST 6 Novoseek chemical compound relationships for LYST gene
About this table
|
Transcripts for LYST(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001005736
Sigma-Aldrich siRNA for LYST  Sigma-Aldrich shRNA Panels and shRNA for LYST  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000081 REFSEQ mRNAs for LYST gene: NM_000081.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000081               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000081                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000081                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000081  Additional cDNA sequence: AK307457.1 AK310790.1 AK311664.1 AL833100.1 BC020793.1 BC033098.1 BC144702.1 BX649113.1 L77889.1 U67615.1 U70064.1 U72192.1 U84744.1 18 DOTS entries: DT.95364459 DT.95173157 DT.100777965 DT.216563 DT.216564 DT.91843611 DT.95173154 DT.100777966 DT.100777967 DT.91752927 DT.40128160 DT.92427793 DT.95332360 DT.97771673 DT.97808809 DT.101974170 DT.95257026 DT.95354749 24/149 AceView cDNA sequences (see all 149
):BQ011080 BM055408 BM055110 U70064 CK904950 BU738114 BM700528 BQ214459 BX649113 AW236542 BX100814 BM700370 AI683851 AI869371 BC033098 AA424769 BU740347 BX492438 AA486745 BU738023 AI698283 AI275101 AA360606 NM_000081
highest scoring ESTs for LYST:U70064 AI041860 N24226 BC033098 BG764384 BX646232 H99579 L77889 N25938 U67615 Unigene Cluster for LYST: Lysosomal trafficking regulator Hs.532411 [show with all ESTs]Unigene Representative Sequence: NM_000081
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000389793
ENST00000389794
|
Expression for LYST
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| LYST expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for LYST
1 / 2 / 3 9 probe-sets matching LYST gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.532411
Expression variation in blood from EXPOLDB for LYST UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698Tissue specificity: Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain |
Orthologs for LYST
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for LYST gene from 5/7 species (see all 7
)
About this table Species with no ortholog for LYST
ENSEMBL Gene Tree for LYST | Paralogs for LYST(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for LYST gene
- NSMAF2 WDFY42 WDFY32
|
SNPs/Variants for LYST(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for LYST (up to first 250kb)
|
Disorders & Mutations for LYST
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606897 disorders: 214500 UniProtKB/Swiss-Prot: LYST_HUMAN, Q99698
Defects in LYST are the cause of Chediak-Higashi syndrome (CHS) [MIM:214500]. CHS is 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)2 Novoseek disease relationships for LYST gene
About this table
GeneTests: LYST Chediak-Higashi Syndrome Human Gene Mutation Database: LYST
|
Medical News for LYST(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for LYST (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/66 PubMed articles for LYST gene (see all 66
):- Identification of the homologous beige and Chediak-Higashi syndrome genes. (PubMed id 8717042)1, 2, 3, 4 Barbosa M.D.F.S.... Kingsmore S.F. (1996)
- Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (PubMed id 8896560)2, 3, 4 Nagle D.L....Moore K.J. (1996)
- The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PubMed id 11984006)1, 3, 4 Tchernev V.T....Kingsmore S.F. (2002)
- Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. (PubMed id 11857544)1, 3, 4 Karim M.A.... Spritz R.A. (2002)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 Gregory S.G.... Bentley D.R. (2006)
- An unappreciated role for RNA surveillance. (PubMed id 14759258)3, 4 Hillman R.T.... Brenner S.E. (2004)
- Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (PubMed id 9215680)3, 4 Barbosa M.D.F.S.... Kingsmore S.F. (1997)
- Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. (PubMed id 15896657)1, 3 Zarzour W....Gahl W.A. (2005)
- Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. (PubMed id 10482950)1, 3 Dufourcq-Lagelouse R....de Saint Basile G. (1999)
- Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. (PubMed id 10648412)1, 3 Certain S....de Saint Basile G. (2000)
|
Search for LYST
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LYST
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing LYST
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LYST(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| LYSTbase | http://bioinf.uta.fi/LYSTbase/ | | Mutations of the LYST gene | http://www.retina-international.com/sci-news/chsmut.htm | | Albinism database (ADB) | http://albinismdb.med.umn.edu/chs1mut.html |
|
| | | About This Section
| --
| Services for LYST(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for LYST:

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