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Aliases for LYST Gene

Aliases for LYST Gene

  • Lysosomal Trafficking Regulator 2 3 5
  • Chediak-Higashi Syndrome 1 2 3
  • Beige Homolog 3 4
  • CHS1 3 4
  • CHS 3 4
  • Lysosomal-Trafficking Regulator 3

External Ids for LYST Gene

Previous HGNC Symbols for LYST Gene

  • CHS1

Previous GeneCards Identifiers for LYST Gene

  • GC01M232151
  • GC01M233890
  • GC01M235824
  • GC01M206276

Summaries for LYST Gene

Entrez Gene Summary for LYST Gene

  • 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]

GeneCards Summary for LYST Gene

LYST (Lysosomal Trafficking Regulator) is a Protein Coding gene. Diseases associated with LYST include Chediak-Higashi Syndrome and Attenuated Chédiak-Higashi Syndrome. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is WDFY3.

UniProtKB/Swiss-Prot for LYST Gene

  • May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LYST Gene

Genomics for LYST Gene

Regulatory Elements for LYST Gene

Enhancers for LYST Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F235929 1.8 FANTOM5 Ensembl ENCODE 37.1 -56.2 -56193 21.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 SIN3A FEZF1 DMAP1 YBX1 ZNF2 ENSG00000273058 ENSG00000230325 RPS21P1 HEATR1 MTR LYST TBCE LDHAP2 LOC100130485 RPSAP21
GH01F235951 1.5 FANTOM5 Ensembl ENCODE 30.7 -70.2 -70193 5.0 HDGF TBL1XR1 BMI1 RAD21 ZNF143 ZNF207 ETV6 RCOR1 CREM MIXL1 LYST MTR RNU5E-2P ENSG00000273058 ENSG00000229291 ENSG00000237845
GH01F235916 1.8 FANTOM5 Ensembl ENCODE 25.5 -36.8 -36768 8.7 HDGF PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 ZNF548 FOS ZNF263 ENSG00000273058 ENSG00000230325 RPS21P1 HEATR1 MTR LYST LOC100130485 RPSAP21 RNU5E-2P TBCE
GH01F235862 1.5 FANTOM5 ENCODE 23.3 +18.1 18058 7.0 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF548 FOS ENSG00000273058 HEATR1 ENSG00000230325 RPS21P1 MTR LYST LDHAP2 RNU6-968P GGPS1 TBCE
GH01F235855 1.4 FANTOM5 Ensembl ENCODE 23.4 +26.0 26008 4.2 ZNF211 RAD21 YY1 POLR2A HNF4G NFE2 CREM NFE2L2 ZNF362 MTA2 LYST RNU6-968P GPR137B MIR1537 RNU5E-2P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LYST on UCSC Golden Path with GeneCards custom track

Genomic Location for LYST Gene

Chromosome:
1
Start:
235,661,031 bp from pter
End:
235,883,708 bp from pter
Size:
222,678 bases
Orientation:
Minus strand

Genomic View for LYST Gene

Genes around LYST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LYST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LYST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LYST Gene

Proteins for LYST Gene

  • Protein details for LYST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99698-LYST_HUMAN
    Recommended name:
    Lysosomal-trafficking regulator
    Protein Accession:
    Q99698
    Secondary Accessions:
    • O43274
    • Q5T2U9
    • Q96TD7
    • Q96TD8
    • Q99709
    • Q9H133

    Protein attributes for LYST Gene

    Size:
    3801 amino acids
    Molecular mass:
    429139 Da
    Quaternary structure:
    • Interacts with CENPJ, LIP8 and ZNF521.

    Alternative splice isoforms for LYST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LYST Gene

Post-translational modifications for LYST Gene

  • Ubiquitination at Lys 1305 and Lys 3191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LYST Gene

Domains & Families for LYST Gene

Suggested Antigen Peptide Sequences for LYST Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99698

UniProtKB/Swiss-Prot:

LYST_HUMAN :
  • Contains 1 BEACH domain.
  • Contains 7 WD repeats.
Domain:
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with LYST: view

Function for LYST Gene

Molecular function for LYST Gene

GENATLAS Biochemistry:
putative lysosomal associated membrane protein,intracellular trafficking regulator,with two alternatively spliced isoforms,homologous to mouse beige and yeast VPS15
UniProtKB/Swiss-Prot Function:
May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.

Gene Ontology (GO) - Molecular Function for LYST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11984006
genes like me logo Genes that share ontologies with LYST: view
genes like me logo Genes that share phenotypes with LYST: view

Human Phenotype Ontology for LYST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LYST Gene

MGI Knock Outs for LYST:
  • Lyst tm1b(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for LYST

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LYST Gene

Localization for LYST Gene

Subcellular locations from UniProtKB/Swiss-Prot for LYST Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LYST gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 3
lysosome 2
endosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LYST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015630 microtubule cytoskeleton IDA 9606205
genes like me logo Genes that share ontologies with LYST: view

Pathways & Interactions for LYST Gene

No Data Available

Gene Ontology (GO) - Biological Process for LYST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007040 lysosome organization IEA --
GO:0015031 protein transport IEA --
GO:0030595 leukocyte chemotaxis ISS --
GO:0032438 melanosome organization ISS --
genes like me logo Genes that share ontologies with LYST: view

No data available for Pathways by source and SIGNOR curated interactions for LYST Gene

Drugs & Compounds for LYST Gene

(5) Drugs for LYST Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for LYST Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LYST: view

Transcripts for LYST Gene

Unigene Clusters for LYST Gene

Lysosomal trafficking regulator:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LYST Gene

No ASD Table

Relevant External Links for LYST Gene

GeneLoc Exon Structure for
LYST
ECgene alternative splicing isoforms for
LYST

Expression for LYST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LYST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LYST Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for LYST Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (17.2), Breast (13.6), and Peripheral blood mononuclear cells (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LYST Gene



NURSA nuclear receptor signaling pathways regulating expression of LYST Gene:

LYST

SOURCE GeneReport for Unigene cluster for LYST Gene:

Hs.532411

mRNA Expression by UniProt/SwissProt for LYST Gene:

Q99698-LYST_HUMAN
Tissue specificity: Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.
genes like me logo Genes that share expression patterns with LYST: view

Primer Products

No data available for Protein tissue co-expression partners for LYST Gene

Orthologs for LYST Gene

This gene was present in the common ancestor of animals.

Orthologs for LYST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LYST 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia LYST 34 35
  • 90.61 (n)
cow
(Bos Taurus)
Mammalia LYST 34 35
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Lyst 34
  • 85.32 (n)
mouse
(Mus musculus)
Mammalia Lyst 34 16 35
  • 85.2 (n)
oppossum
(Monodelphis domestica)
Mammalia LYST 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LYST 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LYST 34 35
  • 73.17 (n)
lizard
(Anolis carolinensis)
Reptilia LYST 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lyst 34
  • 67.36 (n)
zebrafish
(Danio rerio)
Actinopterygii lyst 34
  • 61.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42863 35
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for LYST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LYST Gene

ENSEMBL:
Gene Tree for LYST (if available)
TreeFam:
Gene Tree for LYST (if available)

Paralogs for LYST Gene

Paralogs for LYST Gene

Pseudogenes.org Pseudogenes for LYST Gene

genes like me logo Genes that share paralogs with LYST: view

Variants for LYST Gene

Sequence variations from dbSNP and Humsavar for LYST Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs28942077 Chediak-Higashi syndrome (CHS) [MIM:214500], Pathogenic 235,766,204(-) AGAAG(A/T)CCTTG intron-variant, nc-transcript-variant, reference, missense
rs80338657 Chediak-Higashi syndrome (CHS) [MIM:214500], Pathogenic 235,788,701(-) CTTTC(A/G)GTATT nc-transcript-variant, reference, missense
VAR_071512 Chediak-Higashi syndrome (CHS) [MIM:214500]
rs370022675 Pathogenic 235,809,893(+) TACTC(A/G/T)ACTCT nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, stop-gained
rs757222354 Pathogenic 235,775,041(+) AACTC(A/G/T)CAGTG nc-transcript-variant, reference, synonymous-codon, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for LYST Gene

Variant ID Type Subtype PubMed ID
nsv945383 CNV duplication 23825009
nsv832947 CNV gain 17160897
nsv832936 CNV gain 17160897
nsv549394 CNV gain 21841781
nsv508701 CNV deletion 20534489
nsv472320 CNV novel sequence insertion 20440878
nsv1012436 CNV loss 25217958
nsv1011288 CNV gain 25217958
esv3589199 CNV loss 21293372
esv2661819 CNV deletion 23128226
dgv589n100 CNV gain 25217958
dgv588n100 CNV gain 25217958

Variation tolerance for LYST Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.40; 81.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LYST Gene

Human Gene Mutation Database (HGMD)
LYST
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LYST

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LYST Gene

Disorders for LYST Gene

MalaCards: The human disease database

(6) MalaCards diseases for LYST Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chediak-higashi syndrome
  • chediak - steinbrinck anomaly
attenuated chédiak-higashi syndrome
  • atypical chédiak-higashi syndrome
exfoliation syndrome
  • pseudoexfoliation glaucoma
hermansky-pudlak syndrome 1
  • platelet storage pool deficiency
phacogenic glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search LYST in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LYST_HUMAN
  • 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). {ECO:0000269 PubMed:11857544, ECO:0000269 PubMed:24521565}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LYST

Genetic Association Database (GAD)
LYST
Human Genome Epidemiology (HuGE) Navigator
LYST
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LYST
genes like me logo Genes that share disorders with LYST: view

No data available for Genatlas for LYST Gene

Publications for LYST Gene

  1. Identification of the homologous beige and Chediak-Higashi syndrome genes. (PMID: 8717042) Barbosa M.D.F.S. … Kingsmore S.F. (Nature 1996) 2 3 4 22 64
  2. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. (PMID: 11857544) Karim M.A. … Spritz R.A. (Am. J. Med. Genet. 2002) 3 4 22 64
  3. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PMID: 11984006) Tchernev V.T. … Kingsmore S.F. (Mol. Med. 2002) 3 4 22 64
  4. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (PMID: 8896560) Nagle D.L. … Moore K.J. (Nat. Genet. 1996) 2 3 4 64
  5. Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. (PMID: 24521565) Shimazaki H. … Takiyama Y. (J. Neurol. Neurosurg. Psych. 2014) 3 4 64

Products for LYST Gene

Sources for LYST Gene

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