Q99698 (LYST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lysosomal-trafficking regulator

Alternative name(s):
Beige homolog

Gene names

Name:	LYST
Synonyms:	CHS, CHS1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3801 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.
Subunit structure	Interacts with CENPJ, LIP8 and ZNF521. Ref.5
Subcellular location	Cytoplasm Potential.
Tissue specificity	Abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain.
Involvement in disease	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. Ref.9
Sequence similarities	Contains 1 BEACH domain. Contains 7 WD repeats.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	T cell mediated immunity Inferred from electronic annotation. Source: Compara blood coagulation Inferred from electronic annotation. Source: Compara defense response to bacterium Inferred from sequence or structural similarity. Source: UniProtKB defense response to protozoan Inferred from sequence or structural similarity. Source: UniProtKB defense response to virus Inferred from sequence or structural similarity. Source: UniProtKB endosome to lysosome transport via multivesicular body sorting pathway Inferred from mutant phenotype PubMed 9606205. Source: UniProtKB leukocyte chemotaxis Inferred from sequence or structural similarity. Source: UniProtKB lysosome organization Inferred from electronic annotation. Source: Compara mast cell secretory granule organization Inferred from sequence or structural similarity. Source: UniProtKB melanosome organization Inferred from sequence or structural similarity. Source: UniProtKB microtubule-based process Inferred from electronic annotation. Source: Compara natural killer cell mediated cytotoxicity Inferred from mutant phenotype PubMed 10648412PubMed 6154765. Source: UniProtKB neutrophil mediated immunity Inferred from electronic annotation. Source: Compara phospholipid homeostasis Inferred from electronic annotation. Source: Compara phospholipid metabolic process Inferred from electronic annotation. Source: Compara positive regulation of natural killer cell activation Inferred from electronic annotation. Source: Compara response to drug Inferred from electronic annotation. Source: Compara secretion of lysosomal enzymes Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Inferred from electronic annotation. Source: Compara microtubule cytoskeleton Inferred from direct assay PubMed 9606205. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q99698-1)

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.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 2 (identifier: Q99698-2)

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

Isoform 3 (identifier: Q99698-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3801	3801	Lysosomal-trafficking regulator		PRO_0000051071
Regions
	Repeat	662 – 700	39	WD 1
	Repeat	1582 – 1626	45	WD 2
	Domain	3120 – 3422	303	BEACH
	Repeat	3563 – 3602	40	WD 3
	Repeat	3614 – 3653	40	WD 4
	Repeat	3656 – 3699	44	WD 5
	Repeat	3700 – 3744	45	WD 6
	Repeat	3749 – 3788	40	WD 7
	Compositional bias	31 – 36	6	Poly-Glu
	Compositional bias	2448 – 2452	5	Poly-Leu
Amino acid modifications
	Modified residue	1509	1	Phosphoserine By similarity
	Modified residue	1510	1	Phosphoserine By similarity
	Modified residue	2105	1	Phosphoserine Ref.8
	Modified residue	2213	1	Phosphoserine By similarity
	Modified residue	2217	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1515 – 1531	17	ESDRP…PGERL → GMMTGLSDLYTKIVFRL in isoform 3.		VSP_006779
	Alternative sequence	1532 – 3801	2270	Missing in isoform 3.		VSP_006780
	Alternative sequence	1988 – 2001	14	VCRSF…AEVLG → MARSFRRKCGQSCT in isoform 2.		VSP_006781
	Alternative sequence	2002 – 3801	1800	Missing in isoform 2.		VSP_006782
	Natural variant	123	1	H → R. Corresponds to variant rs3768067 [ dbSNP | Ensembl ].		VAR_022029
	Natural variant	192	1	L → V. Corresponds to variant rs7524261 [ dbSNP | Ensembl ].		VAR_024699
	Natural variant	702	1	E → G. Corresponds to variant rs1063129 [ dbSNP | Ensembl ].		VAR_053404
	Natural variant	1017	1	S → N. Corresponds to variant rs10465613 [ dbSNP | Ensembl ].		VAR_053405
	Natural variant	1563	1	R → H in CHS. Ref.9		VAR_013556
	Natural variant	1949	1	Q → H. Corresponds to variant rs6665568 [ dbSNP | Ensembl ].		VAR_053406
	Natural variant	1999	1	V → D in CHS. Ref.9 Corresponds to variant rs28942077 [ dbSNP | Ensembl ].		VAR_013557
	Natural variant	2116	1	T → M. Corresponds to variant rs7541041 [ dbSNP | Ensembl ].		VAR_060040
	Natural variant	2598	1	F → Y. Corresponds to variant rs34642241 [ dbSNP | Ensembl ].		VAR_053407
	Natural variant	2804	1	G → D. Corresponds to variant rs35333195 [ dbSNP | Ensembl ].		VAR_053408
	Natural variant	2936	1	V → I. Corresponds to variant rs2753327 [ dbSNP | Ensembl ].		VAR_053409
Experimental info
	Sequence conflict	1929 – 1930	2	QG → AC Ref.4
	Sequence conflict	3514	1	L → V Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 27, 2005. Version 3. Checksum: E11BAB6357059D17	FASTA	3,801	429,139
	10 20 30 40 50 60 MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR GFLLLTKLNS 70 80 90 100 110 120 IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPL SADIILTKEK NSSSQRSTQE 130 140 150 160 170 180 KLHLEGSALS SQVSAKVNVF RKSRRQRKIT HRYSVRDARK TQLSTSDSEA NSDEKGIAMN 190 200 210 220 230 240 KHRRPHLLHH FLTSFPKQDH PKAKLDRLAT KEQTPPDAMA LENSREIIPR QGSNTDILSE 250 260 270 280 290 300 PAALSVISNM NNSPFDLCHV LLSLLEKVCK FDVTLNHNSP LAASVVPTLT EFLAGFGDCC 310 320 330 340 350 360 SLSDNLESRV VSAGWTEEPV ALIQRMLFRT VLHLLSVDVS TAEMMPENLR KNLTELLRAA 370 380 390 400 410 420 LKIRICLEKQ PDPFAPRQKK TLQEVQEDFV FSKYRHRALL LPELLEGVLQ ILICCLQSAA 430 440 450 460 470 480 SNPFYFSQAM DLVQEFIQHH GFNLFETAVL QMEWLVLRDG VPPEASEHLK ALINSVMKIM 490 500 510 520 530 540 STVKKVKSEQ LHHSMCTRKR HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD 550 560 570 580 590 600 VYYPERCCCI AVCAHQCLRL LQQASLSSTC VQILSGVHNI GICCCMDPKS VIIPLLHAFK 610 620 630 640 650 660 LPALKNFQQH ILNILNKLIL DQLGGAEISP KIKKAACNIC TVDSDQLAQL EETLQGNLCD 670 680 690 700 710 720 AELSSSLSSP SYRFQGILPS SGSEDLLWKW DALKAYQNFV FEEDRLHSIQ IANHICNLIQ 730 740 750 760 770 780 KGNIVVQWKL YNYIFNPVLQ RGVELAHHCQ HLSVTSAQSH VCSHHNQCLP QDVLQIYVKT 790 800 810 820 830 840 LPILLKSRVI RDLFLSCNGV SQIIELNCLN GIRSHSLKAF ETLIISLGEQ QKDASVPDID 850 860 870 880 890 900 GIDIEQKELS SVHVGTSFHH QQAYSDSPQS LSKFYAGLKE AYPKRRKTVN QDVHINTINL 910 920 930 940 950 960 FLCVAFLCVS KEAESDRESA NDSEDTSGYD STASEPLSHM LPCISLESLV LPSPEHMHQA 970 980 990 1000 1010 1020 ADIWSMCRWI YMLSSVFQKQ FYRLGGFRVC HKLIFMIIQK LFRSHKEEQG KKEGDTSVNE 1030 1040 1050 1060 1070 1080 NQDLNRISQP KRTMKEDLLS LAIKSDPIPS ELGSLKKSAD SLGKLELQHI SSINVEEVSA 1090 1100 1110 1120 1130 1140 TEAAPEEAKL FTSQESETSL QSIRLLEALL AICLHGARTS QQKMELELPN QNLSVESILF 1150 1160 1170 1180 1190 1200 EMRDHLSQSK VIETQLAKPL FDALLRVALG NYSADFEHND AMTEKSHQSA EELSSQPGDF 1210 1220 1230 1240 1250 1260 SEEAEDSQCC SFKLLVEEEG YEADSESNPE DGETQDDGVD LKSETEGFSA SSSPNDLLEN 1270 1280 1290 1300 1310 1320 LTQGEIIYPE ICMLELNLLS ASKAKLDVLA HVFESFLKII RQKEKNVFLL MQQGTVKNLL 1330 1340 1350 1360 1370 1380 GGFLSILTQD DSDFQACQRV LVDLLVSLMS SRTCSEELTL LLRIFLEKSP CTKILLLGIL 1390 1400 1410 1420 1430 1440 KIIESDTTMS PSQYLTFPLL HAPNLSNGVS SQKYPGILNS KAMGLLRRAR VSRSKKEADR 1450 1460 1470 1480 1490 1500 ESFPHRLLSS WHIAPVHLPL LGQNCWPHLS EGFSVSLWFN VECIHEAEST TEKGKKIKKR 1510 1520 1530 1540 1550 1560 NKSLILPDSS FDGTESDRPE GAEYINPGER LIEEGCIHII SLGSKALMIQ VWADPHNATL 1570 1580 1590 1600 1610 1620 IFRVCMDSND DMKAVLLAQV ESQENIFLPS KWQHLVLTYL QQPQGKRRIH GKISIWVSGQ 1630 1640 1650 1660 1670 1680 RKPDVTLDFM LPRKTSLSSD SNKTFCMIGH CLSSQEEFLQ LAGKWDLGNL LLFNGAKVGS 1690 1700 1710 1720 1730 1740 QEAFYLYACG PNHTSVMPCK YGKPVNDYSK YINKEILRCE QIRELFMTKK DVDIGLLIES 1750 1760 1770 1780 1790 1800 LSVVYTTYCP AQYTIYEPVI RLKGQMKTQL SQRPFSSKEV QSILLEPHHL KNLQPTEYKT 1810 1820 1830 1840 1850 1860 IQGILHEIGG TGIFVFLFAR VVELSSCEET QALALRVILS LIKYNQQRVH ELENCNGLSM 1870 1880 1890 1900 1910 1920 IHQVLIKQKC IVGFYILKTL LEGCCGEDII YMNENGEFKL DVDSNAIIQD VKLLEELLLD 1930 1940 1950 1960 1970 1980 WKIWSKAEQG VWETLLAALE VLIRADHHQQ MFNIKQLLKA QVVHHFLLTC QVLQEYKEGQ 1990 2000 2010 2020 2030 2040 LTPMPREVCR SFVKIIAEVL GSPPDLELLT IIFNFLLAVH PPTNTYVCHN PTNFYFSLHI 2050 2060 2070 2080 2090 2100 DGKIFQEKVR SIMYLRHSSS GGRSLMSPGF MVISPSGFTA SPYEGENSSN IIPQQMAAHM 2110 2120 2130 2140 2150 2160 LRSRSLPAFP TSSLLTQSQK LTGSLGCSID RLQNIADTYV ATQSKKQNSL GSSDTLKKGK 2170 2180 2190 2200 2210 2220 EDAFISSCES AKTVCEMEAV LSAQVSVSDV PKGVLGFPVV KADHKQLGAE PRSEDDSPGD 2230 2240 2250 2260 2270 2280 ESCPRRPDYL KGLASFQRSH STIASLGLAF PSQNGSAAVG RWPSLVDRNT DDWENFAYSL 2290 2300 2310 2320 2330 2340 GYEPNYNRTA SAHSVTEDCL VPICCGLYEL LSGVLLILPD VLLEDVMDKL IQADTLLVLV 2350 2360 2370 2380 2390 2400 NHPSPAIQQG VIKLLDAYFA RASKEQKDKF LKNRGFSLLA NQLYLHRGTQ ELLECFIEMF 2410 2420 2430 2440 2450 2460 FGRHIGLDEE FDLEDVRNMG LFQKWSVIPI LGLIETSLYD NILLHNALLL LLQILNSCSK 2470 2480 2490 2500 2510 2520 VADMLLDNGL LYVLCNTVAA LNGLEKNIPM SEYKLLACDI QQLFIAVTIH ACSSSGSQYF 2530 2540 2550 2560 2570 2580 RVIEDLIVML GYLQNSKNKR TQNMAVALQL RVLQAAMEFI RTTANHDSEN LTDSLQSPSA 2590 2600 2610 2620 2630 2640 PHHAVVQKRK SIAGPRKFPL AQTESLLMKM RSVANDELHV MMQRRMSQEN PSQATETELA 2650 2660 2670 2680 2690 2700 QRLQRLTVLA VNRIIYQEFN SDIIDILRTP ENVTQSKTSV FQTEISEENI HHEQSSVFNP 2710 2720 2730 2740 2750 2760 FQKEIFTYLV EGFKVSIGSS KASGSKQQWT KILWSCKETF RMQLGRLLVH ILSPAHAAQE 2770 2780 2790 2800 2810 2820 RKQIFEIVHE PNHQEILRDC LSPSLQHGAK LVLYLSELIH NHQGELTEEE LGTAELLMNA 2830 2840 2850 2860 2870 2880 LKLCGHKCIP PSASTKADLI KMIKEEQKKY ETEEGVNKAA WQKTVNNNQQ SLFQRLDSKS 2890 2900 2910 2920 2930 2940 KDISKIAADI TQAVSLSQGN ERKKVIQHIR GMYKVDLSAS RHWQELIQQL THDRAVWYDP 2950 2960 2970 2980 2990 3000 IYYPTSWQLD PTEGPNRERR RLQRCYLTIP NKYLLRDRQK SEDVVKPPLS YLFEDKTHSS 3010 3020 3030 3040 3050 3060 FSSTVKDKAA SESIRVNRRC ISVAPSRETA GELLLGKCGM YFVEDNASDT VESSSLQGEL 3070 3080 3090 3100 3110 3120 EPASFSWTYE EIKEVHKRWW QLRDNAVEIF LTNGRTLLLA FDNTKVRDDV YHNILTNNLP 3130 3140 3150 3160 3170 3180 NLLEYGNITA LTNLWYTGQI TNFEYLTHLN KHAGRSFNDL MQYPVFPFIL ADYVSETLDL 3190 3200 3210 3220 3230 3240 NDLLIYRNLS KPIAVQYKEK EDRYVDTYKY LEEEYRKGAR EDDPMPPVQP YHYGSHYSNS 3250 3260 3270 3280 3290 3300 GTVLHFLVRM PPFTKMFLAY QDQSFDIPDR TFHSTNTTWR LSSFESMTDV KELIPEFFYL 3310 3320 3330 3340 3350 3360 PEFLVNREGF DFGVRQNGER VNHVNLPPWA RNDPRLFILI HRQALESDYV SQNICQWIDL 3370 3380 3390 3400 3410 3420 VFGYKQKGKA SVQAINVFHP ATYFGMDVSA VEDPVQRRAL ETMIKTYGQT PRQLFHMAHV 3430 3440 3450 3460 3470 3480 SRPGAKLNIE GELPAAVGLL VQFAFRETRE QVKEITYPSP LSWIKGLKWG EYVGSPSAPV 3490 3500 3510 3520 3530 3540 PVVCFSQPHG ERFGSLQALP TRAICGLSRN FCLLMTYSKE QGVRSMNSTD IQWSAILSWG 3550 3560 3570 3580 3590 3600 YADNILRLKS KQSEPPVNFI QSSQQYQVTS CAWVPDSCQL FTGSKCGVIT AYTNRFTSST 3610 3620 3630 3640 3650 3660 PSEIEMETQI HLYGHTEEIT SLFVCKPYSI LISVSRDGTC IIWDLNRLCY VQSLAGHKSP 3670 3680 3690 3700 3710 3720 VTAVSASETS GDIATVCDSA GGGSDLRLWT VNGDLVGHVH CREIICSVAF SNQPEGVSIN 3730 3740 3750 3760 3770 3780 VIAGGLENGI VRLWSTWDLK PVREITFPKS NKPIISLTFS CDGHHLYTAN SDGTVIAWCR 3790 3800 KDQQRLKQPM FYSFLSSYAA G
	Isoform 2 [UniParc]. Checksum: E22371FE2D4DD3EB	FASTA	2,001	225,951
	10 20 30 40 50 60 MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR GFLLLTKLNS 70 80 90 100 110 120 IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPL SADIILTKEK NSSSQRSTQE 130 140 150 160 170 180 KLHLEGSALS SQVSAKVNVF RKSRRQRKIT HRYSVRDARK TQLSTSDSEA NSDEKGIAMN 190 200 210 220 230 240 KHRRPHLLHH FLTSFPKQDH PKAKLDRLAT KEQTPPDAMA LENSREIIPR QGSNTDILSE 250 260 270 280 290 300 PAALSVISNM NNSPFDLCHV LLSLLEKVCK FDVTLNHNSP LAASVVPTLT EFLAGFGDCC 310 320 330 340 350 360 SLSDNLESRV VSAGWTEEPV ALIQRMLFRT VLHLLSVDVS TAEMMPENLR KNLTELLRAA 370 380 390 400 410 420 LKIRICLEKQ PDPFAPRQKK TLQEVQEDFV FSKYRHRALL LPELLEGVLQ ILICCLQSAA 430 440 450 460 470 480 SNPFYFSQAM DLVQEFIQHH GFNLFETAVL QMEWLVLRDG VPPEASEHLK ALINSVMKIM 490 500 510 520 530 540 STVKKVKSEQ LHHSMCTRKR HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD 550 560 570 580 590 600 VYYPERCCCI AVCAHQCLRL LQQASLSSTC VQILSGVHNI GICCCMDPKS VIIPLLHAFK 610 620 630 640 650 660 LPALKNFQQH ILNILNKLIL DQLGGAEISP KIKKAACNIC TVDSDQLAQL EETLQGNLCD 670 680 690 700 710 720 AELSSSLSSP SYRFQGILPS SGSEDLLWKW DALKAYQNFV FEEDRLHSIQ IANHICNLIQ 730 740 750 760 770 780 KGNIVVQWKL YNYIFNPVLQ RGVELAHHCQ HLSVTSAQSH VCSHHNQCLP QDVLQIYVKT 790 800 810 820 830 840 LPILLKSRVI RDLFLSCNGV SQIIELNCLN GIRSHSLKAF ETLIISLGEQ QKDASVPDID 850 860 870 880 890 900 GIDIEQKELS SVHVGTSFHH QQAYSDSPQS LSKFYAGLKE AYPKRRKTVN QDVHINTINL 910 920 930 940 950 960 FLCVAFLCVS KEAESDRESA NDSEDTSGYD STASEPLSHM LPCISLESLV LPSPEHMHQA 970 980 990 1000 1010 1020 ADIWSMCRWI YMLSSVFQKQ FYRLGGFRVC HKLIFMIIQK LFRSHKEEQG KKEGDTSVNE 1030 1040 1050 1060 1070 1080 NQDLNRISQP KRTMKEDLLS LAIKSDPIPS ELGSLKKSAD SLGKLELQHI SSINVEEVSA 1090 1100 1110 1120 1130 1140 TEAAPEEAKL FTSQESETSL QSIRLLEALL AICLHGARTS QQKMELELPN QNLSVESILF 1150 1160 1170 1180 1190 1200 EMRDHLSQSK VIETQLAKPL FDALLRVALG NYSADFEHND AMTEKSHQSA EELSSQPGDF 1210 1220 1230 1240 1250 1260 SEEAEDSQCC SFKLLVEEEG YEADSESNPE DGETQDDGVD LKSETEGFSA SSSPNDLLEN 1270 1280 1290 1300 1310 1320 LTQGEIIYPE ICMLELNLLS ASKAKLDVLA HVFESFLKII RQKEKNVFLL MQQGTVKNLL 1330 1340 1350 1360 1370 1380 GGFLSILTQD DSDFQACQRV LVDLLVSLMS SRTCSEELTL LLRIFLEKSP CTKILLLGIL 1390 1400 1410 1420 1430 1440 KIIESDTTMS PSQYLTFPLL HAPNLSNGVS SQKYPGILNS KAMGLLRRAR VSRSKKEADR 1450 1460 1470 1480 1490 1500 ESFPHRLLSS WHIAPVHLPL LGQNCWPHLS EGFSVSLWFN VECIHEAEST TEKGKKIKKR 1510 1520 1530 1540 1550 1560 NKSLILPDSS FDGTESDRPE GAEYINPGER LIEEGCIHII SLGSKALMIQ VWADPHNATL 1570 1580 1590 1600 1610 1620 IFRVCMDSND DMKAVLLAQV ESQENIFLPS KWQHLVLTYL QQPQGKRRIH GKISIWVSGQ 1630 1640 1650 1660 1670 1680 RKPDVTLDFM LPRKTSLSSD SNKTFCMIGH CLSSQEEFLQ LAGKWDLGNL LLFNGAKVGS 1690 1700 1710 1720 1730 1740 QEAFYLYACG PNHTSVMPCK YGKPVNDYSK YINKEILRCE QIRELFMTKK DVDIGLLIES 1750 1760 1770 1780 1790 1800 LSVVYTTYCP AQYTIYEPVI RLKGQMKTQL SQRPFSSKEV QSILLEPHHL KNLQPTEYKT 1810 1820 1830 1840 1850 1860 IQGILHEIGG TGIFVFLFAR VVELSSCEET QALALRVILS LIKYNQQRVH ELENCNGLSM 1870 1880 1890 1900 1910 1920 IHQVLIKQKC IVGFYILKTL LEGCCGEDII YMNENGEFKL DVDSNAIIQD VKLLEELLLD 1930 1940 1950 1960 1970 1980 WKIWSKAEQG VWETLLAALE VLIRADHHQQ MFNIKQLLKA QVVHHFLLTC QVLQEYKEGQ 1990 2000 LTPMPREMAR SFRRKCGQSC T
	Isoform 3 [UniParc]. Checksum: 37CA582BA08EA898	FASTA	1,531	172,165
	10 20 30 40 50 60 MSTDSNSLAR EFLTDVNRLC NAVVQRVEAR EEEEEETHMA TLGQYLVHGR GFLLLTKLNS 70 80 90 100 110 120 IIDQALTCRE ELLTLLLSLL PLVWKIPVQE EKATDFNLPL SADIILTKEK NSSSQRSTQE 130 140 150 160 170 180 KLHLEGSALS SQVSAKVNVF RKSRRQRKIT HRYSVRDARK TQLSTSDSEA NSDEKGIAMN 190 200 210 220 230 240 KHRRPHLLHH FLTSFPKQDH PKAKLDRLAT KEQTPPDAMA LENSREIIPR QGSNTDILSE 250 260 270 280 290 300 PAALSVISNM NNSPFDLCHV LLSLLEKVCK FDVTLNHNSP LAASVVPTLT EFLAGFGDCC 310 320 330 340 350 360 SLSDNLESRV VSAGWTEEPV ALIQRMLFRT VLHLLSVDVS TAEMMPENLR KNLTELLRAA 370 380 390 400 410 420 LKIRICLEKQ PDPFAPRQKK TLQEVQEDFV FSKYRHRALL LPELLEGVLQ ILICCLQSAA 430 440 450 460 470 480 SNPFYFSQAM DLVQEFIQHH GFNLFETAVL QMEWLVLRDG VPPEASEHLK ALINSVMKIM 490 500 510 520 530 540 STVKKVKSEQ LHHSMCTRKR HRRCEYSHFM HHHRDLSGLL VSAFKNQVSK NPFEETADGD 550 560 570 580 590 600 VYYPERCCCI AVCAHQCLRL LQQASLSSTC VQILSGVHNI GICCCMDPKS VIIPLLHAFK 610 620 630 640 650 660 LPALKNFQQH ILNILNKLIL DQLGGAEISP KIKKAACNIC TVDSDQLAQL EETLQGNLCD 670 680 690 700 710 720 AELSSSLSSP SYRFQGILPS SGSEDLLWKW DALKAYQNFV FEEDRLHSIQ IANHICNLIQ 730 740 750 760 770 780 KGNIVVQWKL YNYIFNPVLQ RGVELAHHCQ HLSVTSAQSH VCSHHNQCLP QDVLQIYVKT 790 800 810 820 830 840 LPILLKSRVI RDLFLSCNGV SQIIELNCLN GIRSHSLKAF ETLIISLGEQ QKDASVPDID 850 860 870 880 890 900 GIDIEQKELS SVHVGTSFHH QQAYSDSPQS LSKFYAGLKE AYPKRRKTVN QDVHINTINL 910 920 930 940 950 960 FLCVAFLCVS KEAESDRESA NDSEDTSGYD STASEPLSHM LPCISLESLV LPSPEHMHQA 970 980 990 1000 1010 1020 ADIWSMCRWI YMLSSVFQKQ FYRLGGFRVC HKLIFMIIQK LFRSHKEEQG KKEGDTSVNE 1030 1040 1050 1060 1070 1080 NQDLNRISQP KRTMKEDLLS LAIKSDPIPS ELGSLKKSAD SLGKLELQHI SSINVEEVSA 1090 1100 1110 1120 1130 1140 TEAAPEEAKL FTSQESETSL QSIRLLEALL AICLHGARTS QQKMELELPN QNLSVESILF 1150 1160 1170 1180 1190 1200 EMRDHLSQSK VIETQLAKPL FDALLRVALG NYSADFEHND AMTEKSHQSA EELSSQPGDF 1210 1220 1230 1240 1250 1260 SEEAEDSQCC SFKLLVEEEG YEADSESNPE DGETQDDGVD LKSETEGFSA SSSPNDLLEN 1270 1280 1290 1300 1310 1320 LTQGEIIYPE ICMLELNLLS ASKAKLDVLA HVFESFLKII RQKEKNVFLL MQQGTVKNLL 1330 1340 1350 1360 1370 1380 GGFLSILTQD DSDFQACQRV LVDLLVSLMS SRTCSEELTL LLRIFLEKSP CTKILLLGIL 1390 1400 1410 1420 1430 1440 KIIESDTTMS PSQYLTFPLL HAPNLSNGVS SQKYPGILNS KAMGLLRRAR VSRSKKEADR 1450 1460 1470 1480 1490 1500 ESFPHRLLSS WHIAPVHLPL LGQNCWPHLS EGFSVSLWFN VECIHEAEST TEKGKKIKKR 1510 1520 1530 NKSLILPDSS FDGTGMMTGL SDLYTKIVFR L

References

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[1]	"Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome." Nagle D.L., Karim M.A., Woolf E.A., Holmgren L., Bork P., Misumi D.J., McGrail S.H., Dussault B.J., Perou C.M., Boissy R.E., Duyk G.M., Spritz R.A., Moore K.J. Nat. Genet. 14:307-311(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Identification of the homologous beige and Chediak-Higashi syndrome genes." Barbosa M.D.F.S., Nguyen Q.A., Tchernev V.T., Ashley J.A., Detter J.C., Blaydes S.M., Brandt S.J., Chotai D., Hodgman C., Solari R.C.E.S., Lovett M., Kingsmore S.F. Nature 382:262-265(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Liver.
[3]	"Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse." Barbosa M.D.F.S., Barrat F.J., Tchernev V.T., Nguyen Q.A., Mishra V.S., Colman S.D., Pastural E., Dufourcq-Lagelouse R., Fischer A., Holcombe R.F., Wallace M.R., Brandt S.J., De Saint Basile G., Kingsmore S.F. Hum. Mol. Genet. 6:1091-1098(1997) [PubMed] [Europe PMC] [Abstract] 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]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[8]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2105, MASS SPECTROMETRY.
[9]	"Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome." Karim M.A., Suzuki K., Fukai K., Oh J., Nagle D.L., Moore K.J., Barbosa E., Falik-Borenstein T., Filipovich A., Ishida Y., Kivrikko S., Klein C., Kreuz F., Levin A., Miyajima H., Regueiro J., Russo C., Uyama E., Vierimaa O., Spritz R.A. Am. J. Med. Genet. 108:16-22(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CHS HIS-1563 AND ASP-1999.

Web resources

LYSTbase

LYST mutation db

Mutations of the LYST gene

Retina International's Scientific Newsletter

Albinism database (ADB)

LYST mutations

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00017094. IPI00220899. IPI00796450.
RefSeq	NP_000072.2. NM_000081.2.
UniGene	Hs.532411.
3D structure databases
ProteinModelPortal	Q99698.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q99698. 1 interaction.
STRING	9606.ENSP00000374443.
PTM databases
PhosphoSite	Q99698.
Polymorphism databases
DMDM	76803797.
Proteomic databases
PaxDb	Q99698.
PRIDE	Q99698.
Protocols and materials databases
DNASU	1130.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000389793; ENSP00000374443; ENSG00000143669. ENST00000389794; ENSP00000374444; ENSG00000143669.
GeneID	1130.
KEGG	hsa:1130.
UCSC	uc001hxj.2. human. uc001hxl.1. human.
Organism-specific databases
CTD	1130.
GeneCards	GC01M235824.
H-InvDB	HIX0001719.
HGNC	HGNC:1968. LYST.
MIM	214500. phenotype. 606897. gene.
neXtProt	NX_Q99698.
Orphanet	167. Chediak-Higashi syndrome.
PharmGKB	PA26500.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOVERGEN	HBG006300.
OMA	SIMYLRH.
OrthoDB	EOG418BMF.
Gene expression databases
ArrayExpress	Q99698.
Bgee	Q99698.
CleanEx	HS_LYST.
Genevestigator	Q99698.
GermOnline	ENSG00000143669. Homo sapiens.
Family and domain databases
Gene3D	1.10.1540.10. 1 hit. 2.130.10.10. 1 hit. 2.30.29.40. 1 hit.
InterPro	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]
Pfam	PF02138. Beach. 1 hit. PF00400. WD40. 2 hits. [Graphical view]
SMART	SM01026. Beach. 1 hit. SM00320. WD40. 4 hits. [Graphical view]
SUPFAM	SSF81837. Beige_BEACH. 1 hit. SSF50978. WD40_like. 1 hit.
PROSITE	PS50197. BEACH. 1 hit. PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	LYST. human.
GenomeRNAi	1130.
NextBio	4698.
SOURCE	Search...

Entry information

Entry name

LYST_HUMAN

Accession

Primary (citable) accession number: Q99698
Secondary accession number(s): O43274 , Q5T2U9, Q96TD7, Q96TD8, Q99709, Q9H133

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	September 27, 2005
Last modified:	May 1, 2013
This is version 124 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.