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Q99698

- LYST_HUMAN

UniProt

Q99698 - LYST_HUMAN

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Protein
Lysosomal-trafficking regulator
Gene
LYST, CHS, CHS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

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 Reviewed prediction

GO - Cellular componenti

  1. cytosol Source: Ensembl
  2. microtubule cytoskeleton Source: UniProtKB
Complete GO annotation...

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).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 regulator
PRO_0000051071Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2105 – 21051Phosphoserine1 Publication
Modified residuei2213 – 22131Phosphoserine By 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.

Family & Domainsi

Domains and Repeats

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

Compositional bias

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

Sequence similaritiesi

Contains 1 BEACH domain.
Contains 7 WD repeats.

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

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.
VSP_006779Add
BLAST
Alternative sequencei1532 – 38012270Missing in isoform 3.
VSP_006780Add
BLAST
Alternative sequencei1988 – 200114VCRSF…AEVLG → MARSFRRKCGQSCT in isoform 2.
VSP_006781Add
BLAST
Alternative sequencei2002 – 38011800Missing in isoform 2.
VSP_006782Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1929 – 19302QG → AC1 Publication
Sequence conflicti3514 – 35141L → V1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 137 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

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