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Q99698 (LYST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lysosomal-trafficking regulator
Alternative name(s):
Beige homolog
Gene names
Name:LYST
Synonyms:CHS, CHS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3801 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processProtein transport
Transport
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
WD repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processT cell mediated immunity

Inferred from electronic annotation. Source: Ensembl

blood coagulation

Inferred from electronic annotation. Source: Ensembl

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: Ensembl

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: Ensembl

natural killer cell mediated cytotoxicity

Inferred from mutant phenotype PubMed 10648412PubMed 6154765. Source: UniProtKB

neutrophil mediated immunity

Inferred from electronic annotation. Source: Ensembl

phospholipid homeostasis

Inferred from electronic annotation. Source: Ensembl

phospholipid metabolic process

Inferred from electronic annotation. Source: Ensembl

pigmentation

Inferred from mutant phenotype PubMed 10648412. Source: UniProtKB

positive regulation of natural killer cell activation

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

secretion of lysosomal enzymes

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytosol

Inferred from electronic annotation. Source: Ensembl

microtubule cytoskeleton

Inferred from direct assay PubMed 9606205. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction Ref.5. 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 38013801Lysosomal-trafficking regulator
PRO_0000051071

Regions

Repeat662 – 70039WD 1
Repeat1582 – 162645WD 2
Domain3120 – 3422303BEACH
Repeat3563 – 360240WD 3
Repeat3614 – 365340WD 4
Repeat3656 – 369944WD 5
Repeat3700 – 374445WD 6
Repeat3749 – 378840WD 7
Compositional bias31 – 366Poly-Glu
Compositional bias2448 – 24525Poly-Leu

Amino acid modifications

Modified residue21051Phosphoserine Ref.8
Modified residue22131Phosphoserine By similarity

Natural variations

Alternative sequence1515 – 153117ESDRP…PGERL → GMMTGLSDLYTKIVFRL in isoform 3.
VSP_006779
Alternative sequence1532 – 38012270Missing in isoform 3.
VSP_006780
Alternative sequence1988 – 200114VCRSF…AEVLG → MARSFRRKCGQSCT in isoform 2.
VSP_006781
Alternative sequence2002 – 38011800Missing in isoform 2.
VSP_006782
Natural variant1231H → R.
Corresponds to variant rs3768067 [ dbSNP | Ensembl ].
VAR_022029
Natural variant1921L → V.
Corresponds to variant rs7524261 [ dbSNP | Ensembl ].
VAR_024699
Natural variant7021E → G.
Corresponds to variant rs1063129 [ dbSNP | Ensembl ].
VAR_053404
Natural variant10171S → N.
Corresponds to variant rs10465613 [ dbSNP | Ensembl ].
VAR_053405
Natural variant15631R → H in CHS. Ref.9
VAR_013556
Natural variant19491Q → H.
Corresponds to variant rs6665568 [ dbSNP | Ensembl ].
VAR_053406
Natural variant19991V → D in CHS. Ref.9
Corresponds to variant rs28942077 [ dbSNP | Ensembl ].
VAR_013557
Natural variant21161T → M.
Corresponds to variant rs7541041 [ dbSNP | Ensembl ].
VAR_060040
Natural variant25981F → Y.
Corresponds to variant rs34642241 [ dbSNP | Ensembl ].
VAR_053407
Natural variant28041G → D.
Corresponds to variant rs35333195 [ dbSNP | Ensembl ].
VAR_053408
Natural variant29361V → I.
Corresponds to variant rs2753327 [ dbSNP | Ensembl ].
VAR_053409

Experimental info

Sequence conflict1929 – 19302QG → AC Ref.4
Sequence conflict35141L → V Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 27, 2005. Version 3.
Checksum: E11BAB6357059D17

FASTA3,801429,139
        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 

« Hide

Isoform 2 [UniParc].

Checksum: E22371FE2D4DD3EB
Show »

FASTA2,001225,951
Isoform 3 [UniParc].

Checksum: 37CA582BA08EA898
Show »

FASTA1,531172,165

References

« Hide 'large scale' references
[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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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.
CCDSCCDS31062.1. [Q99698-1]
RefSeqNP_000072.2. NM_000081.3. [Q99698-1]
XP_005273084.1. XM_005273027.1. [Q99698-1]
UniGeneHs.532411.

3D structure databases

ProteinModelPortalQ99698.
SMRQ99698. Positions 1538-1564, 3023-3422, 3536-3784.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107552. 24 interactions.
IntActQ99698. 1 interaction.
STRING9606.ENSP00000374443.

PTM databases

PhosphoSiteQ99698.

Polymorphism databases

DMDM76803797.

Proteomic databases

MaxQBQ99698.
PaxDbQ99698.
PRIDEQ99698.

Protocols and materials databases

DNASU1130.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389793; ENSP00000374443; ENSG00000143669. [Q99698-1]
ENST00000389794; ENSP00000374444; ENSG00000143669. [Q99698-1]
GeneID1130.
KEGGhsa:1130.
UCSCuc001hxj.3. human. [Q99698-1]
uc001hxl.2. human. [Q99698-3]

Organism-specific databases

CTD1130.
GeneCardsGC01M235824.
GeneReviewsLYST.
H-InvDBHIX0001719.
HGNCHGNC:1968. LYST.
HPAHPA053366.
HPA055725.
MIM214500. phenotype.
606897. gene.
neXtProtNX_Q99698.
Orphanet352723. Attenuated Chediak-Higashi syndrome.
167. Chediak-Higashi syndrome.
PharmGKBPA26500.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOVERGENHBG006300.
OMAQILICCL.
OrthoDBEOG7SV0TD.
PhylomeDBQ99698.
TreeFamTF313658.

Enzyme and pathway databases

SignaLinkQ99698.

Gene expression databases

ArrayExpressQ99698.
BgeeQ99698.
CleanExHS_LYST.
GenevestigatorQ99698.

Family and domain databases

Gene3D1.10.1540.10. 1 hit.
2.130.10.10. 1 hit.
2.30.29.40. 1 hit.
InterProIPR016024. 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]
PfamPF02138. Beach. 1 hit.
PF14844. PH_BEACH. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTSM01026. Beach. 1 hit.
SM00320. WD40. 4 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 4 hits.
SSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEPS50197. BEACH. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLYST. human.
GenomeRNAi1130.
NextBio4698.
PROQ99698.
SOURCESearch...

Entry information

Entry nameLYST_HUMAN
AccessionPrimary (citable) accession number: Q99698
Secondary accession number(s): O43274 expand/collapse secondary AC list , Q5T2U9, Q96TD7, Q96TD8, Q99709, Q9H133
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM