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Q99698

- LYST_HUMAN

UniProt

Q99698 - LYST_HUMAN

Protein

Lysosomal-trafficking regulator

Gene

LYST

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 3 (27 Sep 2005)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. blood coagulation Source: Ensembl
    2. defense response to bacterium Source: UniProtKB
    3. defense response to protozoan Source: UniProtKB
    4. defense response to virus Source: UniProtKB
    5. endosome to lysosome transport via multivesicular body sorting pathway Source: UniProtKB
    6. leukocyte chemotaxis Source: UniProtKB
    7. lysosome organization Source: Ensembl
    8. mast cell secretory granule organization Source: UniProtKB
    9. melanosome organization Source: UniProtKB
    10. microtubule-based process Source: Ensembl
    11. natural killer cell mediated cytotoxicity Source: UniProtKB
    12. neutrophil mediated immunity Source: Ensembl
    13. phospholipid homeostasis Source: Ensembl
    14. phospholipid metabolic process Source: Ensembl
    15. pigmentation Source: UniProtKB
    16. positive regulation of natural killer cell activation Source: Ensembl
    17. response to drug Source: Ensembl
    18. secretion of lysosomal enzymes Source: Ensembl
    19. T cell mediated immunity Source: Ensembl

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    SignaLinkiQ99698.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lysosomal-trafficking regulator
    Alternative name(s):
    Beige homolog
    Gene namesi
    Name:LYST
    Synonyms:CHS, CHS1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:1968. LYST.

    Subcellular locationi

    Cytoplasm Curated

    GO - Cellular componenti

    1. cytosol Source: Ensembl
    2. microtubule cytoskeleton Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1563 – 15631R → H in CHS. 1 Publication
    VAR_013556
    Natural varianti1999 – 19991V → D in CHS. 1 Publication
    Corresponds to variant rs28942077 [ dbSNP | Ensembl ].
    VAR_013557

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi214500. phenotype.
    Orphaneti352723. Attenuated Chediak-Higashi syndrome.
    167. Chediak-Higashi syndrome.
    PharmGKBiPA26500.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 38013801Lysosomal-trafficking regulatorPRO_0000051071Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2105 – 21051Phosphoserine1 Publication
    Modified residuei2213 – 22131PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ99698.
    PaxDbiQ99698.
    PRIDEiQ99698.

    PTM databases

    PhosphoSiteiQ99698.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ99698.
    BgeeiQ99698.
    CleanExiHS_LYST.
    GenevestigatoriQ99698.

    Organism-specific databases

    HPAiHPA053366.
    HPA055725.

    Interactioni

    Subunit structurei

    Interacts with CENPJ, LIP8 and ZNF521.1 Publication

    Protein-protein interaction databases

    BioGridi107552. 24 interactions.
    IntActiQ99698. 1 interaction.
    STRINGi9606.ENSP00000374443.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99698.
    SMRiQ99698. Positions 1538-1564, 3023-3422, 3536-3784.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati662 – 70039WD 1Add
    BLAST
    Repeati1582 – 162645WD 2Add
    BLAST
    Domaini3120 – 3422303BEACHPROSITE-ProRule annotationAdd
    BLAST
    Repeati3563 – 360240WD 3Add
    BLAST
    Repeati3614 – 365340WD 4Add
    BLAST
    Repeati3656 – 369944WD 5Add
    BLAST
    Repeati3700 – 374445WD 6Add
    BLAST
    Repeati3749 – 378840WD 7Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi31 – 366Poly-Glu
    Compositional biasi2448 – 24525Poly-Leu

    Sequence similaritiesi

    Contains 1 BEACH domain.PROSITE-ProRule annotation
    Contains 7 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOVERGENiHBG006300.
    OMAiQILICCL.
    OrthoDBiEOG7SV0TD.
    PhylomeDBiQ99698.
    TreeFamiTF313658.

    Family and domain databases

    Gene3Di1.10.1540.10. 1 hit.
    2.130.10.10. 1 hit.
    2.30.29.40. 1 hit.
    InterProiIPR016024. ARM-type_fold.
    IPR000409. BEACH_dom.
    IPR023362. PH-BEACH_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF02138. Beach. 1 hit.
    PF14844. PH_BEACH. 1 hit.
    PF00400. WD40. 2 hits.
    [Graphical view]
    SMARTiSM01026. Beach. 1 hit.
    SM00320. WD40. 4 hits.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 4 hits.
    SSF50978. SSF50978. 1 hit.
    SSF81837. SSF81837. 1 hit.
    PROSITEiPS50197. BEACH. 1 hit.
    PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    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

    MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR     50
    GFLLLTKLNS IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPL 100
    SADIILTKEK NSSSQRSTQE KLHLEGSALS SQVSAKVNVF RKSRRQRKIT 150
    HRYSVRDARK TQLSTSDSEA NSDEKGIAMN KHRRPHLLHH FLTSFPKQDH 200
    PKAKLDRLAT KEQTPPDAMA LENSREIIPR QGSNTDILSE PAALSVISNM 250
    NNSPFDLCHV LLSLLEKVCK FDVTLNHNSP LAASVVPTLT EFLAGFGDCC 300
    SLSDNLESRV VSAGWTEEPV ALIQRMLFRT VLHLLSVDVS TAEMMPENLR 350
    KNLTELLRAA LKIRICLEKQ PDPFAPRQKK TLQEVQEDFV FSKYRHRALL 400
    LPELLEGVLQ ILICCLQSAA SNPFYFSQAM DLVQEFIQHH GFNLFETAVL 450
    QMEWLVLRDG VPPEASEHLK ALINSVMKIM STVKKVKSEQ LHHSMCTRKR 500
    HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD VYYPERCCCI 550
    AVCAHQCLRL LQQASLSSTC VQILSGVHNI GICCCMDPKS VIIPLLHAFK 600
    LPALKNFQQH ILNILNKLIL DQLGGAEISP KIKKAACNIC TVDSDQLAQL 650
    EETLQGNLCD AELSSSLSSP SYRFQGILPS SGSEDLLWKW DALKAYQNFV 700
    FEEDRLHSIQ IANHICNLIQ KGNIVVQWKL YNYIFNPVLQ RGVELAHHCQ 750
    HLSVTSAQSH VCSHHNQCLP QDVLQIYVKT LPILLKSRVI RDLFLSCNGV 800
    SQIIELNCLN GIRSHSLKAF ETLIISLGEQ QKDASVPDID GIDIEQKELS 850
    SVHVGTSFHH QQAYSDSPQS LSKFYAGLKE AYPKRRKTVN QDVHINTINL 900
    FLCVAFLCVS KEAESDRESA NDSEDTSGYD STASEPLSHM LPCISLESLV 950
    LPSPEHMHQA ADIWSMCRWI YMLSSVFQKQ FYRLGGFRVC HKLIFMIIQK 1000
    LFRSHKEEQG KKEGDTSVNE NQDLNRISQP KRTMKEDLLS LAIKSDPIPS 1050
    ELGSLKKSAD SLGKLELQHI SSINVEEVSA TEAAPEEAKL FTSQESETSL 1100
    QSIRLLEALL AICLHGARTS QQKMELELPN QNLSVESILF EMRDHLSQSK 1150
    VIETQLAKPL FDALLRVALG NYSADFEHND AMTEKSHQSA EELSSQPGDF 1200
    SEEAEDSQCC SFKLLVEEEG YEADSESNPE DGETQDDGVD LKSETEGFSA 1250
    SSSPNDLLEN LTQGEIIYPE ICMLELNLLS ASKAKLDVLA HVFESFLKII 1300
    RQKEKNVFLL MQQGTVKNLL GGFLSILTQD DSDFQACQRV LVDLLVSLMS 1350
    SRTCSEELTL LLRIFLEKSP CTKILLLGIL KIIESDTTMS PSQYLTFPLL 1400
    HAPNLSNGVS SQKYPGILNS KAMGLLRRAR VSRSKKEADR ESFPHRLLSS 1450
    WHIAPVHLPL LGQNCWPHLS EGFSVSLWFN VECIHEAEST TEKGKKIKKR 1500
    NKSLILPDSS FDGTESDRPE GAEYINPGER LIEEGCIHII SLGSKALMIQ 1550
    VWADPHNATL IFRVCMDSND DMKAVLLAQV ESQENIFLPS KWQHLVLTYL 1600
    QQPQGKRRIH GKISIWVSGQ RKPDVTLDFM LPRKTSLSSD SNKTFCMIGH 1650
    CLSSQEEFLQ LAGKWDLGNL LLFNGAKVGS QEAFYLYACG PNHTSVMPCK 1700
    YGKPVNDYSK YINKEILRCE QIRELFMTKK DVDIGLLIES LSVVYTTYCP 1750
    AQYTIYEPVI RLKGQMKTQL SQRPFSSKEV QSILLEPHHL KNLQPTEYKT 1800
    IQGILHEIGG TGIFVFLFAR VVELSSCEET QALALRVILS LIKYNQQRVH 1850
    ELENCNGLSM IHQVLIKQKC IVGFYILKTL LEGCCGEDII YMNENGEFKL 1900
    DVDSNAIIQD VKLLEELLLD WKIWSKAEQG VWETLLAALE VLIRADHHQQ 1950
    MFNIKQLLKA QVVHHFLLTC QVLQEYKEGQ LTPMPREVCR SFVKIIAEVL 2000
    GSPPDLELLT IIFNFLLAVH PPTNTYVCHN PTNFYFSLHI DGKIFQEKVR 2050
    SIMYLRHSSS GGRSLMSPGF MVISPSGFTA SPYEGENSSN IIPQQMAAHM 2100
    LRSRSLPAFP TSSLLTQSQK LTGSLGCSID RLQNIADTYV ATQSKKQNSL 2150
    GSSDTLKKGK EDAFISSCES AKTVCEMEAV LSAQVSVSDV PKGVLGFPVV 2200
    KADHKQLGAE PRSEDDSPGD ESCPRRPDYL KGLASFQRSH STIASLGLAF 2250
    PSQNGSAAVG RWPSLVDRNT DDWENFAYSL GYEPNYNRTA SAHSVTEDCL 2300
    VPICCGLYEL LSGVLLILPD VLLEDVMDKL IQADTLLVLV NHPSPAIQQG 2350
    VIKLLDAYFA RASKEQKDKF LKNRGFSLLA NQLYLHRGTQ ELLECFIEMF 2400
    FGRHIGLDEE FDLEDVRNMG LFQKWSVIPI LGLIETSLYD NILLHNALLL 2450
    LLQILNSCSK VADMLLDNGL LYVLCNTVAA LNGLEKNIPM SEYKLLACDI 2500
    QQLFIAVTIH ACSSSGSQYF RVIEDLIVML GYLQNSKNKR TQNMAVALQL 2550
    RVLQAAMEFI RTTANHDSEN LTDSLQSPSA PHHAVVQKRK SIAGPRKFPL 2600
    AQTESLLMKM RSVANDELHV MMQRRMSQEN PSQATETELA QRLQRLTVLA 2650
    VNRIIYQEFN SDIIDILRTP ENVTQSKTSV FQTEISEENI HHEQSSVFNP 2700
    FQKEIFTYLV EGFKVSIGSS KASGSKQQWT KILWSCKETF RMQLGRLLVH 2750
    ILSPAHAAQE RKQIFEIVHE PNHQEILRDC LSPSLQHGAK LVLYLSELIH 2800
    NHQGELTEEE LGTAELLMNA LKLCGHKCIP PSASTKADLI KMIKEEQKKY 2850
    ETEEGVNKAA WQKTVNNNQQ SLFQRLDSKS KDISKIAADI TQAVSLSQGN 2900
    ERKKVIQHIR GMYKVDLSAS RHWQELIQQL THDRAVWYDP IYYPTSWQLD 2950
    PTEGPNRERR RLQRCYLTIP NKYLLRDRQK SEDVVKPPLS YLFEDKTHSS 3000
    FSSTVKDKAA SESIRVNRRC ISVAPSRETA GELLLGKCGM YFVEDNASDT 3050
    VESSSLQGEL EPASFSWTYE EIKEVHKRWW QLRDNAVEIF LTNGRTLLLA 3100
    FDNTKVRDDV YHNILTNNLP NLLEYGNITA LTNLWYTGQI TNFEYLTHLN 3150
    KHAGRSFNDL MQYPVFPFIL ADYVSETLDL NDLLIYRNLS KPIAVQYKEK 3200
    EDRYVDTYKY LEEEYRKGAR EDDPMPPVQP YHYGSHYSNS GTVLHFLVRM 3250
    PPFTKMFLAY QDQSFDIPDR TFHSTNTTWR LSSFESMTDV KELIPEFFYL 3300
    PEFLVNREGF DFGVRQNGER VNHVNLPPWA RNDPRLFILI HRQALESDYV 3350
    SQNICQWIDL VFGYKQKGKA SVQAINVFHP ATYFGMDVSA VEDPVQRRAL 3400
    ETMIKTYGQT PRQLFHMAHV SRPGAKLNIE GELPAAVGLL VQFAFRETRE 3450
    QVKEITYPSP LSWIKGLKWG EYVGSPSAPV PVVCFSQPHG ERFGSLQALP 3500
    TRAICGLSRN FCLLMTYSKE QGVRSMNSTD IQWSAILSWG YADNILRLKS 3550
    KQSEPPVNFI QSSQQYQVTS CAWVPDSCQL FTGSKCGVIT AYTNRFTSST 3600
    PSEIEMETQI HLYGHTEEIT SLFVCKPYSI LISVSRDGTC IIWDLNRLCY 3650
    VQSLAGHKSP VTAVSASETS GDIATVCDSA GGGSDLRLWT VNGDLVGHVH 3700
    CREIICSVAF SNQPEGVSIN VIAGGLENGI VRLWSTWDLK PVREITFPKS 3750
    NKPIISLTFS CDGHHLYTAN SDGTVIAWCR KDQQRLKQPM FYSFLSSYAA 3800
    G 3801

    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
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1929 – 19302QG → AC(PubMed:16710414)Curated
    Sequence conflicti3514 – 35141L → V(PubMed:8896560)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti123 – 1231H → R.
    Corresponds to variant rs3768067 [ dbSNP | Ensembl ].
    VAR_022029
    Natural varianti192 – 1921L → V.
    Corresponds to variant rs7524261 [ dbSNP | Ensembl ].
    VAR_024699
    Natural varianti702 – 7021E → G.
    Corresponds to variant rs1063129 [ dbSNP | Ensembl ].
    VAR_053404
    Natural varianti1017 – 10171S → N.
    Corresponds to variant rs10465613 [ dbSNP | Ensembl ].
    VAR_053405
    Natural varianti1563 – 15631R → H in CHS. 1 Publication
    VAR_013556
    Natural varianti1949 – 19491Q → H.
    Corresponds to variant rs6665568 [ dbSNP | Ensembl ].
    VAR_053406
    Natural varianti1999 – 19991V → D in CHS. 1 Publication
    Corresponds to variant rs28942077 [ dbSNP | Ensembl ].
    VAR_013557
    Natural varianti2116 – 21161T → M.
    Corresponds to variant rs7541041 [ dbSNP | Ensembl ].
    VAR_060040
    Natural varianti2598 – 25981F → Y.
    Corresponds to variant rs34642241 [ dbSNP | Ensembl ].
    VAR_053407
    Natural varianti2804 – 28041G → D.
    Corresponds to variant rs35333195 [ dbSNP | Ensembl ].
    VAR_053408
    Natural varianti2936 – 29361V → I.
    Corresponds to variant rs2753327 [ dbSNP | Ensembl ].
    VAR_053409

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1515 – 153117ESDRP…PGERL → GMMTGLSDLYTKIVFRL in isoform 3. 1 PublicationVSP_006779Add
    BLAST
    Alternative sequencei1532 – 38012270Missing in isoform 3. 1 PublicationVSP_006780Add
    BLAST
    Alternative sequencei1988 – 200114VCRSF…AEVLG → MARSFRRKCGQSCT in isoform 2. 1 PublicationVSP_006781Add
    BLAST
    Alternative sequencei2002 – 38011800Missing in isoform 2. 1 PublicationVSP_006782Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    AL390765, AL121997 Genomic DNA. Translation: CAI14952.1.
    AL121997, AL390765 Genomic DNA. Translation: CAI18987.1.
    CCDSiCCDS31062.1. [Q99698-1]
    RefSeqiNP_000072.2. NM_000081.3. [Q99698-1]
    XP_005273084.1. XM_005273027.1. [Q99698-1]
    UniGeneiHs.532411.

    Genome annotation databases

    EnsembliENST00000389793; ENSP00000374443; ENSG00000143669. [Q99698-1]
    ENST00000389794; ENSP00000374444; ENSG00000143669. [Q99698-1]
    GeneIDi1130.
    KEGGihsa:1130.
    UCSCiuc001hxj.3. human. [Q99698-1]
    uc001hxl.2. human. [Q99698-3]

    Polymorphism databases

    DMDMi76803797.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    AL390765 , AL121997 Genomic DNA. Translation: CAI14952.1 .
    AL121997 , AL390765 Genomic DNA. Translation: CAI18987.1 .
    CCDSi CCDS31062.1. [Q99698-1 ]
    RefSeqi NP_000072.2. NM_000081.3. [Q99698-1 ]
    XP_005273084.1. XM_005273027.1. [Q99698-1 ]
    UniGenei Hs.532411.

    3D structure databases

    ProteinModelPortali Q99698.
    SMRi Q99698. Positions 1538-1564, 3023-3422, 3536-3784.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107552. 24 interactions.
    IntActi Q99698. 1 interaction.
    STRINGi 9606.ENSP00000374443.

    PTM databases

    PhosphoSitei Q99698.

    Polymorphism databases

    DMDMi 76803797.

    Proteomic databases

    MaxQBi Q99698.
    PaxDbi Q99698.
    PRIDEi Q99698.

    Protocols and materials databases

    DNASUi 1130.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389793 ; ENSP00000374443 ; ENSG00000143669 . [Q99698-1 ]
    ENST00000389794 ; ENSP00000374444 ; ENSG00000143669 . [Q99698-1 ]
    GeneIDi 1130.
    KEGGi hsa:1130.
    UCSCi uc001hxj.3. human. [Q99698-1 ]
    uc001hxl.2. human. [Q99698-3 ]

    Organism-specific databases

    CTDi 1130.
    GeneCardsi GC01M235824.
    GeneReviewsi LYST.
    H-InvDB HIX0001719.
    HGNCi HGNC:1968. LYST.
    HPAi HPA053366.
    HPA055725.
    MIMi 214500. phenotype.
    606897. gene.
    neXtProti NX_Q99698.
    Orphaneti 352723. Attenuated Chediak-Higashi syndrome.
    167. Chediak-Higashi syndrome.
    PharmGKBi PA26500.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOVERGENi HBG006300.
    OMAi QILICCL.
    OrthoDBi EOG7SV0TD.
    PhylomeDBi Q99698.
    TreeFami TF313658.

    Enzyme and pathway databases

    SignaLinki Q99698.

    Miscellaneous databases

    ChiTaRSi LYST. human.
    GenomeRNAii 1130.
    NextBioi 4698.
    PROi Q99698.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99698.
    Bgeei Q99698.
    CleanExi HS_LYST.
    Genevestigatori Q99698.

    Family and domain databases

    Gene3Di 1.10.1540.10. 1 hit.
    2.130.10.10. 1 hit.
    2.30.29.40. 1 hit.
    InterProi IPR016024. ARM-type_fold.
    IPR000409. BEACH_dom.
    IPR023362. PH-BEACH_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF02138. Beach. 1 hit.
    PF14844. PH_BEACH. 1 hit.
    PF00400. WD40. 2 hits.
    [Graphical view ]
    SMARTi SM01026. Beach. 1 hit.
    SM00320. WD40. 4 hits.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 4 hits.
    SSF50978. SSF50978. 1 hit.
    SSF81837. SSF81837. 1 hit.
    PROSITEi PS50197. BEACH. 1 hit.
    PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Liver.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins."
      Tchernev V.T., Mansfield T.A., Giot L., Kumar A.M., Nandabalan K., Li Y., Mishra V.S., Detter J.C., Rothberg J.M., Wallace M.R., Southwick F.S., Kingsmore S.F.
      Mol. Med. 8:56-64(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CENPJ; LIP8 AND ZNF521.
    6. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2105, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: VARIANTS CHS HIS-1563 AND ASP-1999.

    Entry informationi

    Entry nameiLYST_HUMAN
    AccessioniPrimary (citable) accession number: Q99698
    Secondary accession number(s): O43274
    , Q5T2U9, Q96TD7, Q96TD8, Q99709, Q9H133
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: September 27, 2005
    Last modified: October 1, 2014
    This is version 138 of the entry and version 3 of the sequence. [Complete history]
    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.

    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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3