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Q99698

- LYST_HUMAN

UniProt

Q99698 - LYST_HUMAN

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Protein

Lysosomal-trafficking regulator

Gene

LYST

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 - 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
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 Curated

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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1397 – 13971F → V in CHS. 1 Publication
VAR_071512
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

BgeeiQ99698.
CleanExiHS_LYST.
ExpressionAtlasiQ99698. baseline and differential.
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.
GeneTreeiENSGT00760000119083.
HOVERGENiHBG006300.
InParanoidiQ99698.
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

        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
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 varianti1397 – 13971F → V in CHS. 1 Publication
VAR_071512
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:
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.
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]
NP_001288294.1. NM_001301365.1. [Q99698-1]
UniGeneiHs.532411.

Genome annotation databases

EnsembliENST00000389793; ENSP00000374443; 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:
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 .
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 ]
NP_001288294.1. NM_001301365.1. [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 ]
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.
GeneTreei ENSGT00760000119083.
HOVERGENi HBG006300.
InParanoidi Q99698.
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

Bgeei Q99698.
CleanExi HS_LYST.
ExpressionAtlasi Q99698. baseline and differential.
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 ]
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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: INVOLVEMENT IN CHS, VARIANTS CHS HIS-1563 AND ASP-1999.
  10. "Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation."
    Shimazaki H., Honda J., Naoi T., Namekawa M., Nakano I., Yazaki M., Nakamura K., Yoshida K., Ikeda S., Ishiura H., Fukuda Y., Takahashi Y., Goto J., Tsuji S., Takiyama Y.
    J. Neurol. Neurosurg. Psych. 85:1024-1028(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CHS VAL-1397.

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: November 26, 2014
This is version 140 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