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Protein

Lysosomal-trafficking regulator

Gene

LYST

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q99698

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysosomal-trafficking regulator
Alternative name(s):
Beige homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LYST
Synonyms:CHS, CHS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143669.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1968 LYST

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606897 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99698

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Chediak-Higashi syndrome (CHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:214500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0715121397F → V in CHS. 1 Publication1
Natural variantiVAR_0135561563R → H in CHS. 1 PublicationCorresponds to variant dbSNP:rs80338657EnsemblClinVar.1
Natural variantiVAR_0135571999V → D in CHS. 1 PublicationCorresponds to variant dbSNP:rs28942077EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1130

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
LYST

MalaCards human disease database

More...
MalaCardsi
LYST
MIMi214500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143669

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
352723 Attenuated Chediak-Higashi syndrome
167 Chediak-Higashi syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26500

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
76803797

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000510711 – 3801Lysosomal-trafficking regulatorAdd BLAST3801

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei164PhosphoserineBy similarity1
Modified residuei165PhosphothreonineBy similarity1
Modified residuei166PhosphoserineBy similarity1
Modified residuei1509PhosphoserineBy similarity1
Modified residuei1510PhosphoserineBy similarity1
Modified residuei2105PhosphoserineCombined sources1
Modified residuei2124PhosphoserineCombined sources1
Modified residuei2213PhosphoserineBy similarity1
Modified residuei2217PhosphoserineBy similarity1
Modified residuei2264PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q99698

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99698

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q99698

PeptideAtlas

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PeptideAtlasi
Q99698

PRoteomics IDEntifications database

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PRIDEi
Q99698

ProteomicsDB human proteome resource

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ProteomicsDBi
78406
78407 [Q99698-2]
78408 [Q99698-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99698

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q99698

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143669 Expressed in 225 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

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CleanExi
HS_LYST

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99698 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99698 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA053366
HPA055725

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CENPJ, LIP8 and ZNF521.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107552, 39 interactors

Protein interaction database and analysis system

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IntActi
Q99698, 22 interactors

Molecular INTeraction database

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MINTi
Q99698

STRING: functional protein association networks

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STRINGi
9606.ENSP00000374443

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q99698

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q99698

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati662 – 700WD 1Add BLAST39
Repeati1582 – 1626WD 2Add BLAST45
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3009 – 3115BEACH-type PHPROSITE-ProRule annotationAdd BLAST107
Domaini3120 – 3422BEACHPROSITE-ProRule annotationAdd BLAST303
Repeati3563 – 3602WD 3Add BLAST40
Repeati3614 – 3653WD 4Add BLAST40
Repeati3656 – 3699WD 5Add BLAST44
Repeati3700 – 3744WD 6Add BLAST45
Repeati3749 – 3788WD 7Add BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi31 – 36Poly-Glu6
Compositional biasi2448 – 2452Poly-Leu5

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1786 Eukaryota
ENOG410XNQC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156359

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006300

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99698

KEGG Orthology (KO)

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KOi
K22937

Identification of Orthologs from Complete Genome Data

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OMAi
NHTSIMP

Database of Orthologous Groups

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OrthoDBi
EOG091G001L

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99698

TreeFam database of animal gene trees

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TreeFami
TF313658

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1540.10, 1 hit
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR030464 LYST
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR13743:SF86 PTHR13743:SF86, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02138 Beach, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 1 hit
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99698-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR
60 70 80 90 100
GFLLLTKLNS IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPL
110 120 130 140 150
SADIILTKEK NSSSQRSTQE KLHLEGSALS SQVSAKVNVF RKSRRQRKIT
160 170 180 190 200
HRYSVRDARK TQLSTSDSEA NSDEKGIAMN KHRRPHLLHH FLTSFPKQDH
210 220 230 240 250
PKAKLDRLAT KEQTPPDAMA LENSREIIPR QGSNTDILSE PAALSVISNM
260 270 280 290 300
NNSPFDLCHV LLSLLEKVCK FDVTLNHNSP LAASVVPTLT EFLAGFGDCC
310 320 330 340 350
SLSDNLESRV VSAGWTEEPV ALIQRMLFRT VLHLLSVDVS TAEMMPENLR
360 370 380 390 400
KNLTELLRAA LKIRICLEKQ PDPFAPRQKK TLQEVQEDFV FSKYRHRALL
410 420 430 440 450
LPELLEGVLQ ILICCLQSAA SNPFYFSQAM DLVQEFIQHH GFNLFETAVL
460 470 480 490 500
QMEWLVLRDG VPPEASEHLK ALINSVMKIM STVKKVKSEQ LHHSMCTRKR
510 520 530 540 550
HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD VYYPERCCCI
560 570 580 590 600
AVCAHQCLRL LQQASLSSTC VQILSGVHNI GICCCMDPKS VIIPLLHAFK
610 620 630 640 650
LPALKNFQQH ILNILNKLIL DQLGGAEISP KIKKAACNIC TVDSDQLAQL
660 670 680 690 700
EETLQGNLCD AELSSSLSSP SYRFQGILPS SGSEDLLWKW DALKAYQNFV
710 720 730 740 750
FEEDRLHSIQ IANHICNLIQ KGNIVVQWKL YNYIFNPVLQ RGVELAHHCQ
760 770 780 790 800
HLSVTSAQSH VCSHHNQCLP QDVLQIYVKT LPILLKSRVI RDLFLSCNGV
810 820 830 840 850
SQIIELNCLN GIRSHSLKAF ETLIISLGEQ QKDASVPDID GIDIEQKELS
860 870 880 890 900
SVHVGTSFHH QQAYSDSPQS LSKFYAGLKE AYPKRRKTVN QDVHINTINL
910 920 930 940 950
FLCVAFLCVS KEAESDRESA NDSEDTSGYD STASEPLSHM LPCISLESLV
960 970 980 990 1000
LPSPEHMHQA ADIWSMCRWI YMLSSVFQKQ FYRLGGFRVC HKLIFMIIQK
1010 1020 1030 1040 1050
LFRSHKEEQG KKEGDTSVNE NQDLNRISQP KRTMKEDLLS LAIKSDPIPS
1060 1070 1080 1090 1100
ELGSLKKSAD SLGKLELQHI SSINVEEVSA TEAAPEEAKL FTSQESETSL
1110 1120 1130 1140 1150
QSIRLLEALL AICLHGARTS QQKMELELPN QNLSVESILF EMRDHLSQSK
1160 1170 1180 1190 1200
VIETQLAKPL FDALLRVALG NYSADFEHND AMTEKSHQSA EELSSQPGDF
1210 1220 1230 1240 1250
SEEAEDSQCC SFKLLVEEEG YEADSESNPE DGETQDDGVD LKSETEGFSA
1260 1270 1280 1290 1300
SSSPNDLLEN LTQGEIIYPE ICMLELNLLS ASKAKLDVLA HVFESFLKII
1310 1320 1330 1340 1350
RQKEKNVFLL MQQGTVKNLL GGFLSILTQD DSDFQACQRV LVDLLVSLMS
1360 1370 1380 1390 1400
SRTCSEELTL LLRIFLEKSP CTKILLLGIL KIIESDTTMS PSQYLTFPLL
1410 1420 1430 1440 1450
HAPNLSNGVS SQKYPGILNS KAMGLLRRAR VSRSKKEADR ESFPHRLLSS
1460 1470 1480 1490 1500
WHIAPVHLPL LGQNCWPHLS EGFSVSLWFN VECIHEAEST TEKGKKIKKR
1510 1520 1530 1540 1550
NKSLILPDSS FDGTESDRPE GAEYINPGER LIEEGCIHII SLGSKALMIQ
1560 1570 1580 1590 1600
VWADPHNATL IFRVCMDSND DMKAVLLAQV ESQENIFLPS KWQHLVLTYL
1610 1620 1630 1640 1650
QQPQGKRRIH GKISIWVSGQ RKPDVTLDFM LPRKTSLSSD SNKTFCMIGH
1660 1670 1680 1690 1700
CLSSQEEFLQ LAGKWDLGNL LLFNGAKVGS QEAFYLYACG PNHTSVMPCK
1710 1720 1730 1740 1750
YGKPVNDYSK YINKEILRCE QIRELFMTKK DVDIGLLIES LSVVYTTYCP
1760 1770 1780 1790 1800
AQYTIYEPVI RLKGQMKTQL SQRPFSSKEV QSILLEPHHL KNLQPTEYKT
1810 1820 1830 1840 1850
IQGILHEIGG TGIFVFLFAR VVELSSCEET QALALRVILS LIKYNQQRVH
1860 1870 1880 1890 1900
ELENCNGLSM IHQVLIKQKC IVGFYILKTL LEGCCGEDII YMNENGEFKL
1910 1920 1930 1940 1950
DVDSNAIIQD VKLLEELLLD WKIWSKAEQG VWETLLAALE VLIRADHHQQ
1960 1970 1980 1990 2000
MFNIKQLLKA QVVHHFLLTC QVLQEYKEGQ LTPMPREVCR SFVKIIAEVL
2010 2020 2030 2040 2050
GSPPDLELLT IIFNFLLAVH PPTNTYVCHN PTNFYFSLHI DGKIFQEKVR
2060 2070 2080 2090 2100
SIMYLRHSSS GGRSLMSPGF MVISPSGFTA SPYEGENSSN IIPQQMAAHM
2110 2120 2130 2140 2150
LRSRSLPAFP TSSLLTQSQK LTGSLGCSID RLQNIADTYV ATQSKKQNSL
2160 2170 2180 2190 2200
GSSDTLKKGK EDAFISSCES AKTVCEMEAV LSAQVSVSDV PKGVLGFPVV
2210 2220 2230 2240 2250
KADHKQLGAE PRSEDDSPGD ESCPRRPDYL KGLASFQRSH STIASLGLAF
2260 2270 2280 2290 2300
PSQNGSAAVG RWPSLVDRNT DDWENFAYSL GYEPNYNRTA SAHSVTEDCL
2310 2320 2330 2340 2350
VPICCGLYEL LSGVLLILPD VLLEDVMDKL IQADTLLVLV NHPSPAIQQG
2360 2370 2380 2390 2400
VIKLLDAYFA RASKEQKDKF LKNRGFSLLA NQLYLHRGTQ ELLECFIEMF
2410 2420 2430 2440 2450
FGRHIGLDEE FDLEDVRNMG LFQKWSVIPI LGLIETSLYD NILLHNALLL
2460 2470 2480 2490 2500
LLQILNSCSK VADMLLDNGL LYVLCNTVAA LNGLEKNIPM SEYKLLACDI
2510 2520 2530 2540 2550
QQLFIAVTIH ACSSSGSQYF RVIEDLIVML GYLQNSKNKR TQNMAVALQL
2560 2570 2580 2590 2600
RVLQAAMEFI RTTANHDSEN LTDSLQSPSA PHHAVVQKRK SIAGPRKFPL
2610 2620 2630 2640 2650
AQTESLLMKM RSVANDELHV MMQRRMSQEN PSQATETELA QRLQRLTVLA
2660 2670 2680 2690 2700
VNRIIYQEFN SDIIDILRTP ENVTQSKTSV FQTEISEENI HHEQSSVFNP
2710 2720 2730 2740 2750
FQKEIFTYLV EGFKVSIGSS KASGSKQQWT KILWSCKETF RMQLGRLLVH
2760 2770 2780 2790 2800
ILSPAHAAQE RKQIFEIVHE PNHQEILRDC LSPSLQHGAK LVLYLSELIH
2810 2820 2830 2840 2850
NHQGELTEEE LGTAELLMNA LKLCGHKCIP PSASTKADLI KMIKEEQKKY
2860 2870 2880 2890 2900
ETEEGVNKAA WQKTVNNNQQ SLFQRLDSKS KDISKIAADI TQAVSLSQGN
2910 2920 2930 2940 2950
ERKKVIQHIR GMYKVDLSAS RHWQELIQQL THDRAVWYDP IYYPTSWQLD
2960 2970 2980 2990 3000
PTEGPNRERR RLQRCYLTIP NKYLLRDRQK SEDVVKPPLS YLFEDKTHSS
3010 3020 3030 3040 3050
FSSTVKDKAA SESIRVNRRC ISVAPSRETA GELLLGKCGM YFVEDNASDT
3060 3070 3080 3090 3100
VESSSLQGEL EPASFSWTYE EIKEVHKRWW QLRDNAVEIF LTNGRTLLLA
3110 3120 3130 3140 3150
FDNTKVRDDV YHNILTNNLP NLLEYGNITA LTNLWYTGQI TNFEYLTHLN
3160 3170 3180 3190 3200
KHAGRSFNDL MQYPVFPFIL ADYVSETLDL NDLLIYRNLS KPIAVQYKEK
3210 3220 3230 3240 3250
EDRYVDTYKY LEEEYRKGAR EDDPMPPVQP YHYGSHYSNS GTVLHFLVRM
3260 3270 3280 3290 3300
PPFTKMFLAY QDQSFDIPDR TFHSTNTTWR LSSFESMTDV KELIPEFFYL
3310 3320 3330 3340 3350
PEFLVNREGF DFGVRQNGER VNHVNLPPWA RNDPRLFILI HRQALESDYV
3360 3370 3380 3390 3400
SQNICQWIDL VFGYKQKGKA SVQAINVFHP ATYFGMDVSA VEDPVQRRAL
3410 3420 3430 3440 3450
ETMIKTYGQT PRQLFHMAHV SRPGAKLNIE GELPAAVGLL VQFAFRETRE
3460 3470 3480 3490 3500
QVKEITYPSP LSWIKGLKWG EYVGSPSAPV PVVCFSQPHG ERFGSLQALP
3510 3520 3530 3540 3550
TRAICGLSRN FCLLMTYSKE QGVRSMNSTD IQWSAILSWG YADNILRLKS
3560 3570 3580 3590 3600
KQSEPPVNFI QSSQQYQVTS CAWVPDSCQL FTGSKCGVIT AYTNRFTSST
3610 3620 3630 3640 3650
PSEIEMETQI HLYGHTEEIT SLFVCKPYSI LISVSRDGTC IIWDLNRLCY
3660 3670 3680 3690 3700
VQSLAGHKSP VTAVSASETS GDIATVCDSA GGGSDLRLWT VNGDLVGHVH
3710 3720 3730 3740 3750
CREIICSVAF SNQPEGVSIN VIAGGLENGI VRLWSTWDLK PVREITFPKS
3760 3770 3780 3790 3800
NKPIISLTFS CDGHHLYTAN SDGTVIAWCR KDQQRLKQPM FYSFLSSYAA

G
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Length:3,801
Mass (Da):429,139
Last modified:September 27, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE11BAB6357059D17
GO
Isoform 2 (identifier: Q99698-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1988-2001: VCRSFVKIIAEVLG → MARSFRRKCGQSCT
     2002-3801: Missing.

Show »
Length:2,001
Mass (Da):225,951
Checksum:iE22371FE2D4DD3EB
GO
Isoform 3 (identifier: Q99698-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1515-1531: ESDRPEGAEYINPGERL → GMMTGLSDLYTKIVFRL
     1532-3801: Missing.

Show »
Length:1,531
Mass (Da):172,165
Checksum:i37CA582BA08EA898
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4F5H7C4F5_HUMAN
Lysosomal-trafficking regulator
LYST
181Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MRZ6A0A0A0MRZ6_HUMAN
Lysosomal-trafficking regulator
LYST
1,382Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1929 – 1930QG → AC (PubMed:16710414).Curated2
Sequence conflicti3514L → V (PubMed:8896560).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022029123H → R. Corresponds to variant dbSNP:rs3768067EnsemblClinVar.1
Natural variantiVAR_024699192L → V. Corresponds to variant dbSNP:rs7524261EnsemblClinVar.1
Natural variantiVAR_053404702E → G. Corresponds to variant dbSNP:rs1063129Ensembl.1
Natural variantiVAR_0534051017S → N. Corresponds to variant dbSNP:rs10465613EnsemblClinVar.1
Natural variantiVAR_0715121397F → V in CHS. 1 Publication1
Natural variantiVAR_0135561563R → H in CHS. 1 PublicationCorresponds to variant dbSNP:rs80338657EnsemblClinVar.1
Natural variantiVAR_0534061949Q → H. Corresponds to variant dbSNP:rs6665568EnsemblClinVar.1
Natural variantiVAR_0135571999V → D in CHS. 1 PublicationCorresponds to variant dbSNP:rs28942077EnsemblClinVar.1
Natural variantiVAR_0600402116T → M. Corresponds to variant dbSNP:rs7541041Ensembl.1
Natural variantiVAR_0534072598F → Y. Corresponds to variant dbSNP:rs34642241EnsemblClinVar.1
Natural variantiVAR_0534082804G → D. Corresponds to variant dbSNP:rs35333195EnsemblClinVar.1
Natural variantiVAR_0534092936V → I. Corresponds to variant dbSNP:rs2753327EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0067791515 – 1531ESDRP…PGERL → GMMTGLSDLYTKIVFRL in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0067801532 – 3801Missing in isoform 3. 1 PublicationAdd BLAST2270
Alternative sequenceiVSP_0067811988 – 2001VCRSF…AEVLG → MARSFRRKCGQSCT in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0067822002 – 3801Missing in isoform 2. 1 PublicationAdd BLAST1800

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U84744 mRNA Translation: AAB87737.1
U67615 mRNA Translation: AAB41309.1
U72192 mRNA Translation: AAB39697.1
L77889 mRNA Translation: AAB51608.1
U70064 mRNA Translation: AAB41533.1
AL121997 Genomic DNA No translation available.
AL390765 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31062.1 [Q99698-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000072.2, NM_000081.3 [Q99698-1]
NP_001288294.1, NM_001301365.1 [Q99698-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.532411

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389793; ENSP00000374443; ENSG00000143669 [Q99698-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1130

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1130

UCSC genome browser

More...
UCSCi
uc001hxj.4 human [Q99698-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

LYSTbase

LYST mutation db

Mutations of the LYST gene

Retina International's Scientific Newsletter

Albinism database (ADB)

LYST mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U84744 mRNA Translation: AAB87737.1
U67615 mRNA Translation: AAB41309.1
U72192 mRNA Translation: AAB39697.1
L77889 mRNA Translation: AAB51608.1
U70064 mRNA Translation: AAB41533.1
AL121997 Genomic DNA No translation available.
AL390765 Genomic DNA No translation available.
CCDSiCCDS31062.1 [Q99698-1]
RefSeqiNP_000072.2, NM_000081.3 [Q99698-1]
NP_001288294.1, NM_001301365.1 [Q99698-1]
UniGeneiHs.532411

3D structure databases

ProteinModelPortaliQ99698
SMRiQ99698
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107552, 39 interactors
IntActiQ99698, 22 interactors
MINTiQ99698
STRINGi9606.ENSP00000374443

PTM databases

iPTMnetiQ99698
PhosphoSitePlusiQ99698

Polymorphism and mutation databases

DMDMi76803797

Proteomic databases

EPDiQ99698
MaxQBiQ99698
PaxDbiQ99698
PeptideAtlasiQ99698
PRIDEiQ99698
ProteomicsDBi78406
78407 [Q99698-2]
78408 [Q99698-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1130
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389793; ENSP00000374443; ENSG00000143669 [Q99698-1]
GeneIDi1130
KEGGihsa:1130
UCSCiuc001hxj.4 human [Q99698-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1130
DisGeNETi1130
EuPathDBiHostDB:ENSG00000143669.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LYST
GeneReviewsiLYST

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0001719
HGNCiHGNC:1968 LYST
HPAiHPA053366
HPA055725
MalaCardsiLYST
MIMi214500 phenotype
606897 gene
neXtProtiNX_Q99698
OpenTargetsiENSG00000143669
Orphaneti352723 Attenuated Chediak-Higashi syndrome
167 Chediak-Higashi syndrome
PharmGKBiPA26500

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1786 Eukaryota
ENOG410XNQC LUCA
GeneTreeiENSGT00940000156359
HOVERGENiHBG006300
InParanoidiQ99698
KOiK22937
OMAiNHTSIMP
OrthoDBiEOG091G001L
PhylomeDBiQ99698
TreeFamiTF313658

Enzyme and pathway databases

SignaLinkiQ99698

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LYST human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1130

Protein Ontology

More...
PROi
PR:Q99698

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143669 Expressed in 225 organ(s), highest expression level in blood
CleanExiHS_LYST
ExpressionAtlasiQ99698 baseline and differential
GenevisibleiQ99698 HS

Family and domain databases

CDDicd06071 Beach, 1 hit
cd01201 PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR030464 LYST
IPR023362 PH-BEACH_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13743:SF86 PTHR13743:SF86, 1 hit
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF14844 PH_BEACH, 1 hit
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 4 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF50978 SSF50978, 1 hit
SSF81837 SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197 BEACH, 1 hit
PS51783 PH_BEACH, 1 hit
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLYST_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99698
Secondary accession number(s): O43274
, Q5T2U9, Q96TD7, Q96TD8, Q99709, Q9H133
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 27, 2005
Last modified: December 5, 2018
This is version 178 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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