Property Summary

NCBI Gene PubMed Count 38
PubMed Score 87.04
PubTator Score 141.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma -1.100 3.3e-06
psoriasis 1.100 1.7e-03
osteosarcoma -1.499 1.5e-03
atypical teratoid / rhabdoid tumor -1.500 3.7e-03
glioblastoma 1.300 7.6e-04
medulloblastoma, large-cell -1.500 8.9e-03
tuberculosis 1.300 6.4e-05
intraductal papillary-mucinous adenoma (... 1.600 1.2e-02
adult high grade glioma 1.100 1.4e-02
Pick disease 1.700 1.4e-04
progressive supranuclear palsy -1.200 1.8e-02
ulcerative colitis 1.200 8.6e-06
ovarian cancer -2.000 7.9e-07

Pathway (1)

Gene RIF (15)

PMID Text
26478006 Effects of LYST mutations in Chediak-Higashi syndrome show that LYST is involved in regulation of natural killer cell lytic activity, from lytic granule size to polarization and exocytosis, as well as endolysosomal compartment identity.
25425525 Lack of LYST during endolysosomal biogenesis leads to the formation of enlarged hybrid organelles and blocks the terminal maturation of lytic granules into secretory granules.
25216107 Lysosome degradation and traffcking of cargo via autophagy, endocytosis or retrograde transport are not affected by LYST depletion.
24830864 involved in the regulation of phospholipase D activity
24521565 present an AR-HSP family with cerebellar ataxia and neuropathy with a novel homozygous missense mutation in the lysosomal trafficking regulator (LYST) gene. LYST is known as the causative gene for Chediak-Higashi syndrome.
24112114 this is the first report of a severe early-onset Chediak-Higashi syndrome (CHS0 with a homozygous LYST/CHS1 missense mutation.
24072239 gene sequencing of all exons of the lysosome trafficking regulator (CHS1/LYST) gene and revealed a nonsense mutation in exon 5 (c.925C>T, p.R309X).
21488161 R1836X mutation in the LYST gene is associated with Chediak Higashi syndrome.
20463881 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19620308 Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity
18043242 CHS1/LYST protein is involved in either vesicle fusion or fission. CHS1/LYST affects hematologic, immunologic and neurologic processes. Review.
15896657 two newly described nonsense mutations are expected to give rise to a severe phenotype and the patient had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes
12753649 results suggest that the Beige protein interacts with at least two different partners and that the Beige protein affects cellular events, such as nuclear PtdIns(4,5)P2 localization, in addition to lysosome size
11984006 The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
11857544 Childhood, adolescent, and adult forms of Chediak-Higashi syndrome correlate with different genotypes.

AA Sequence

MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMATLGQYLVHGRGFLLLTKLNSIIDQALTCRE      1 - 70
ELLTLLLSLLPLVWKIPVQEEKATDFNLPLSADIILTKEKNSSSQRSTQEKLHLEGSALSSQVSAKVNVF     71 - 140
RKSRRQRKITHRYSVRDARKTQLSTSDSEANSDEKGIAMNKHRRPHLLHHFLTSFPKQDHPKAKLDRLAT    141 - 210
KEQTPPDAMALENSREIIPRQGSNTDILSEPAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVTLNHNSP    211 - 280
LAASVVPTLTEFLAGFGDCCSLSDNLESRVVSAGWTEEPVALIQRMLFRTVLHLLSVDVSTAEMMPENLR    281 - 350
KNLTELLRAALKIRICLEKQPDPFAPRQKKTLQEVQEDFVFSKYRHRALLLPELLEGVLQILICCLQSAA    351 - 420
SNPFYFSQAMDLVQEFIQHHGFNLFETAVLQMEWLVLRDGVPPEASEHLKALINSVMKIMSTVKKVKSEQ    421 - 490
LHHSMCTRKRHRRCEYSHFMHHHRDLSGLLVSAFKNQVSKNPFEETADGDVYYPERCCCIAVCAHQCLRL    491 - 560
LQQASLSSTCVQILSGVHNIGICCCMDPKSVIIPLLHAFKLPALKNFQQHILNILNKLILDQLGGAEISP    561 - 630
KIKKAACNICTVDSDQLAQLEETLQGNLCDAELSSSLSSPSYRFQGILPSSGSEDLLWKWDALKAYQNFV    631 - 700
FEEDRLHSIQIANHICNLIQKGNIVVQWKLYNYIFNPVLQRGVELAHHCQHLSVTSAQSHVCSHHNQCLP    701 - 770
QDVLQIYVKTLPILLKSRVIRDLFLSCNGVSQIIELNCLNGIRSHSLKAFETLIISLGEQQKDASVPDID    771 - 840
GIDIEQKELSSVHVGTSFHHQQAYSDSPQSLSKFYAGLKEAYPKRRKTVNQDVHINTINLFLCVAFLCVS    841 - 910
KEAESDRESANDSEDTSGYDSTASEPLSHMLPCISLESLVLPSPEHMHQAADIWSMCRWIYMLSSVFQKQ    911 - 980
FYRLGGFRVCHKLIFMIIQKLFRSHKEEQGKKEGDTSVNENQDLNRISQPKRTMKEDLLSLAIKSDPIPS    981 - 1050
ELGSLKKSADSLGKLELQHISSINVEEVSATEAAPEEAKLFTSQESETSLQSIRLLEALLAICLHGARTS   1051 - 1120
QQKMELELPNQNLSVESILFEMRDHLSQSKVIETQLAKPLFDALLRVALGNYSADFEHNDAMTEKSHQSA   1121 - 1190
EELSSQPGDFSEEAEDSQCCSFKLLVEEEGYEADSESNPEDGETQDDGVDLKSETEGFSASSSPNDLLEN   1191 - 1260
LTQGEIIYPEICMLELNLLSASKAKLDVLAHVFESFLKIIRQKEKNVFLLMQQGTVKNLLGGFLSILTQD   1261 - 1330
DSDFQACQRVLVDLLVSLMSSRTCSEELTLLLRIFLEKSPCTKILLLGILKIIESDTTMSPSQYLTFPLL   1331 - 1400
HAPNLSNGVSSQKYPGILNSKAMGLLRRARVSRSKKEADRESFPHRLLSSWHIAPVHLPLLGQNCWPHLS   1401 - 1470
EGFSVSLWFNVECIHEAESTTEKGKKIKKRNKSLILPDSSFDGTESDRPEGAEYINPGERLIEEGCIHII   1471 - 1540
SLGSKALMIQVWADPHNATLIFRVCMDSNDDMKAVLLAQVESQENIFLPSKWQHLVLTYLQQPQGKRRIH   1541 - 1610
GKISIWVSGQRKPDVTLDFMLPRKTSLSSDSNKTFCMIGHCLSSQEEFLQLAGKWDLGNLLLFNGAKVGS   1611 - 1680
QEAFYLYACGPNHTSVMPCKYGKPVNDYSKYINKEILRCEQIRELFMTKKDVDIGLLIESLSVVYTTYCP   1681 - 1750
AQYTIYEPVIRLKGQMKTQLSQRPFSSKEVQSILLEPHHLKNLQPTEYKTIQGILHEIGGTGIFVFLFAR   1751 - 1820
VVELSSCEETQALALRVILSLIKYNQQRVHELENCNGLSMIHQVLIKQKCIVGFYILKTLLEGCCGEDII   1821 - 1890
YMNENGEFKLDVDSNAIIQDVKLLEELLLDWKIWSKAEQGVWETLLAALEVLIRADHHQQMFNIKQLLKA   1891 - 1960
QVVHHFLLTCQVLQEYKEGQLTPMPREVCRSFVKIIAEVLGSPPDLELLTIIFNFLLAVHPPTNTYVCHN   1961 - 2030
PTNFYFSLHIDGKIFQEKVRSIMYLRHSSSGGRSLMSPGFMVISPSGFTASPYEGENSSNIIPQQMAAHM   2031 - 2100
LRSRSLPAFPTSSLLTQSQKLTGSLGCSIDRLQNIADTYVATQSKKQNSLGSSDTLKKGKEDAFISSCES   2101 - 2170
AKTVCEMEAVLSAQVSVSDVPKGVLGFPVVKADHKQLGAEPRSEDDSPGDESCPRRPDYLKGLASFQRSH   2171 - 2240
STIASLGLAFPSQNGSAAVGRWPSLVDRNTDDWENFAYSLGYEPNYNRTASAHSVTEDCLVPICCGLYEL   2241 - 2310
LSGVLLILPDVLLEDVMDKLIQADTLLVLVNHPSPAIQQGVIKLLDAYFARASKEQKDKFLKNRGFSLLA   2311 - 2380
NQLYLHRGTQELLECFIEMFFGRHIGLDEEFDLEDVRNMGLFQKWSVIPILGLIETSLYDNILLHNALLL   2381 - 2450
LLQILNSCSKVADMLLDNGLLYVLCNTVAALNGLEKNIPMSEYKLLACDIQQLFIAVTIHACSSSGSQYF   2451 - 2520
RVIEDLIVMLGYLQNSKNKRTQNMAVALQLRVLQAAMEFIRTTANHDSENLTDSLQSPSAPHHAVVQKRK   2521 - 2590
SIAGPRKFPLAQTESLLMKMRSVANDELHVMMQRRMSQENPSQATETELAQRLQRLTVLAVNRIIYQEFN   2591 - 2660
SDIIDILRTPENVTQSKTSVFQTEISEENIHHEQSSVFNPFQKEIFTYLVEGFKVSIGSSKASGSKQQWT   2661 - 2730
KILWSCKETFRMQLGRLLVHILSPAHAAQERKQIFEIVHEPNHQEILRDCLSPSLQHGAKLVLYLSELIH   2731 - 2800
NHQGELTEEELGTAELLMNALKLCGHKCIPPSASTKADLIKMIKEEQKKYETEEGVNKAAWQKTVNNNQQ   2801 - 2870
SLFQRLDSKSKDISKIAADITQAVSLSQGNERKKVIQHIRGMYKVDLSASRHWQELIQQLTHDRAVWYDP   2871 - 2940
IYYPTSWQLDPTEGPNRERRRLQRCYLTIPNKYLLRDRQKSEDVVKPPLSYLFEDKTHSSFSSTVKDKAA   2941 - 3010
SESIRVNRRCISVAPSRETAGELLLGKCGMYFVEDNASDTVESSSLQGELEPASFSWTYEEIKEVHKRWW   3011 - 3080
QLRDNAVEIFLTNGRTLLLAFDNTKVRDDVYHNILTNNLPNLLEYGNITALTNLWYTGQITNFEYLTHLN   3081 - 3150
KHAGRSFNDLMQYPVFPFILADYVSETLDLNDLLIYRNLSKPIAVQYKEKEDRYVDTYKYLEEEYRKGAR   3151 - 3220
EDDPMPPVQPYHYGSHYSNSGTVLHFLVRMPPFTKMFLAYQDQSFDIPDRTFHSTNTTWRLSSFESMTDV   3221 - 3290
KELIPEFFYLPEFLVNREGFDFGVRQNGERVNHVNLPPWARNDPRLFILIHRQALESDYVSQNICQWIDL   3291 - 3360
VFGYKQKGKASVQAINVFHPATYFGMDVSAVEDPVQRRALETMIKTYGQTPRQLFHMAHVSRPGAKLNIE   3361 - 3430
GELPAAVGLLVQFAFRETREQVKEITYPSPLSWIKGLKWGEYVGSPSAPVPVVCFSQPHGERFGSLQALP   3431 - 3500
TRAICGLSRNFCLLMTYSKEQGVRSMNSTDIQWSAILSWGYADNILRLKSKQSEPPVNFIQSSQQYQVTS   3501 - 3570
CAWVPDSCQLFTGSKCGVITAYTNRFTSSTPSEIEMETQIHLYGHTEEITSLFVCKPYSILISVSRDGTC   3571 - 3640
IIWDLNRLCYVQSLAGHKSPVTAVSASETSGDIATVCDSAGGGSDLRLWTVNGDLVGHVHCREIICSVAF   3641 - 3710
SNQPEGVSINVIAGGLENGIVRLWSTWDLKPVREITFPKSNKPIISLTFSCDGHHLYTANSDGTVIAWCR   3711 - 3780
KDQQRLKQPMFYSFLSSYAAG                                                    3781 - 3801
//

Text Mined References (41)

PMID Year Title
26478006 2016 Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
25425525 2015 LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.
25216107 2014 LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis.
24830864 2014 Enhanced diacylglycerol production by phospholipase D activation is responsible for abnormal increase in concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mice.
24521565 2014 Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24112114 2014 Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
24072239 2014 Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21488161 2011 A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.
20463881 2010 Digital quantification of human eye color highlights genetic association of three new loci.
19369195 2009 Large-scale proteomics analysis of the human kinome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18043242 2008 Chediak-Higashi syndrome.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15896657 2005 Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
14759258 2004 An unappreciated role for RNA surveillance.
12753649 2003 Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446740 2002 Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.
12125812 2002 Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder.
11984006 2002 The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
11857544 2002 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
11102458 2000 Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10648412 2000 Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
10482950 1999 Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
9606205 1998 Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.
9215680 1997 Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
9215679 1997 Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
9145619 1997 Chediak-Higashi syndrome--a case report with ultrastructural and cytogenetic study.
8896560 1996 Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
8751864 1996 Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
8751863 1996 Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).
8717042 1996 Identification of the homologous beige and Chediak-Higashi syndrome genes.
6445041 1980 A new immunodeficiency disorder in humans involving NK cells.
6154765 1980 Chédiak-Higashi gene in humans I. Impairment of natural-killer function.
3322007 1987 Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome.
3013924 1986 Chediak-Higashi syndrome: immunological responses to Epstein-Barr virus studies in gene heterozygotes.
1672300 1991 Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.