MS18A_HUMAN
ID MS18A_HUMAN Reviewed; 233 AA.
AC Q9NYP9; B2R562; Q542Z0;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Protein Mis18-alpha;
DE AltName: Full=FAPP1-associated protein 1;
GN Name=MIS18A; Synonyms=C21orf45, C21orf46, FASP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Dowler S.J.;
RT "Identification of FAPP1 interacting proteins.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10773462; DOI=10.1016/s0378-1119(00)00089-5;
RA Slavov D., Hattori M., Sakaki Y., Rosenthal A., Shimizu N., Minoshima S.,
RA Kudoh J., Yaspo M.-L., Ramser J., Reinhardt R., Reimer C., Clancy K.,
RA Rynditch A., Gardiner K.;
RT "Criteria for gene identification and features of genome organization:
RT analysis of 6.5 Mb of DNA sequence from human chromosome 21.";
RL Gene 247:215-232(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH OIP5 AND MIS18BP1,
RP IDENTIFICATION IN A COMPLEX CONTAINING MIS18A; OIP5; MIS18BP1; RBBP7 AND
RP RBBP4, IDENTIFICATION BY MASS SPECTROMETRY, MUTAGENESIS OF CYS-85; CYS-88;
RP CYS-134; CYS-141 AND CYS-144, AND TISSUE SPECIFICITY.
RX PubMed=17199038; DOI=10.1016/j.devcel.2006.11.002;
RA Fujita Y., Hayashi T., Kiyomitsu T., Toyoda Y., Kokubu A., Obuse C.,
RA Yanagida M.;
RT "Priming of centromere for CENP-A recruitment by human hMis18alpha,
RT hMis18beta, and M18BP1.";
RL Dev. Cell 12:17-30(2007).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-233, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-36, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-36; SER-39 AND SER-40, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [11]
RP SUBUNIT, AND MUTAGENESIS OF VAL-82 AND TYR-176.
RX PubMed=26921242; DOI=10.15252/embr.201541520;
RA Subramanian L., Medina-Pritchard B., Barton R., Spiller F.,
RA Kulasegaran-Shylini R., Radaviciute G., Allshire R.C.,
RA Arockia Jeyaprakash A.;
RT "Centromere localization and function of Mis18 requires Yippee-like domain-
RT mediated oligomerization.";
RL EMBO Rep. 17:496-507(2016).
RN [12]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-162, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: Required for recruitment of CENPA to centromeres and normal
CC chromosome segregation during mitosis. {ECO:0000269|PubMed:17199038}.
CC -!- SUBUNIT: Homodimer, and heterodimer with OIP5/MIS18B (PubMed:17199038,
CC PubMed:26921242). Identified in a complex containing MIS18A,
CC OIP5/MIS18B, MIS18BP1, RBBP7 and RBBP4 (PubMed:17199038).
CC {ECO:0000269|PubMed:17199038, ECO:0000269|PubMed:26921242}.
CC -!- INTERACTION:
CC Q9NYP9; Q9P2A4: ABI3; NbExp=3; IntAct=EBI-1104552, EBI-742038;
CC Q9NYP9; Q13155: AIMP2; NbExp=6; IntAct=EBI-1104552, EBI-745226;
CC Q9NYP9; A2BDD9: AMOT; NbExp=3; IntAct=EBI-1104552, EBI-17286414;
CC Q9NYP9; Q6ZNE5: ATG14; NbExp=4; IntAct=EBI-1104552, EBI-2690371;
CC Q9NYP9; Q9H0E9-2: BRD8; NbExp=3; IntAct=EBI-1104552, EBI-10304361;
CC Q9NYP9; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-1104552, EBI-747505;
CC Q9NYP9; Q96NT0: CCDC115; NbExp=3; IntAct=EBI-1104552, EBI-2810325;
CC Q9NYP9; Q16281: CNGA3; NbExp=3; IntAct=EBI-1104552, EBI-1642108;
CC Q9NYP9; Q9NPF5: DMAP1; NbExp=3; IntAct=EBI-1104552, EBI-399105;
CC Q9NYP9; Q9BVV2: FNDC11; NbExp=3; IntAct=EBI-1104552, EBI-744935;
CC Q9NYP9; P23434: GCSH; NbExp=3; IntAct=EBI-1104552, EBI-715444;
CC Q9NYP9; Q8IVS8: GLYCTK; NbExp=4; IntAct=EBI-1104552, EBI-748515;
CC Q9NYP9; Q8IY31-3: IFT20; NbExp=3; IntAct=EBI-1104552, EBI-9091197;
CC Q9NYP9; O60333-2: KIF1B; NbExp=3; IntAct=EBI-1104552, EBI-10975473;
CC Q9NYP9; O14901: KLF11; NbExp=3; IntAct=EBI-1104552, EBI-948266;
CC Q9NYP9; Q9NS73-5: MBIP; NbExp=3; IntAct=EBI-1104552, EBI-10182361;
CC Q9NYP9; Q9NYP9: MIS18A; NbExp=3; IntAct=EBI-1104552, EBI-1104552;
CC Q9NYP9; Q9GZM8: NDEL1; NbExp=5; IntAct=EBI-1104552, EBI-928842;
CC Q9NYP9; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-1104552, EBI-741158;
CC Q9NYP9; Q9BVL2: NUP58; NbExp=6; IntAct=EBI-1104552, EBI-2811583;
CC Q9NYP9; O43482: OIP5; NbExp=23; IntAct=EBI-1104552, EBI-536879;
CC Q9NYP9; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-1104552, EBI-1105153;
CC Q9NYP9; P60891: PRPS1; NbExp=3; IntAct=EBI-1104552, EBI-749195;
CC Q9NYP9; Q14D33: RTP5; NbExp=3; IntAct=EBI-1104552, EBI-10217913;
CC Q9NYP9; O75558: STX11; NbExp=3; IntAct=EBI-1104552, EBI-714135;
CC Q9NYP9; Q7L2K0: TEDC2; NbExp=3; IntAct=EBI-1104552, EBI-8465456;
CC Q9NYP9; Q9NVV9: THAP1; NbExp=3; IntAct=EBI-1104552, EBI-741515;
CC Q9NYP9; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-1104552, EBI-10241197;
CC Q9NYP9; P40222: TXLNA; NbExp=4; IntAct=EBI-1104552, EBI-359793;
CC Q9NYP9; O76024: WFS1; NbExp=3; IntAct=EBI-1104552, EBI-720609;
CC Q9NYP9; Q8N720: ZNF655; NbExp=3; IntAct=EBI-1104552, EBI-625509;
CC Q9NYP9; B4DJ69; NbExp=3; IntAct=EBI-1104552, EBI-23918878;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17199038}. Chromosome
CC {ECO:0000269|PubMed:17199038}. Chromosome, centromere
CC {ECO:0000269|PubMed:17199038}. Note=Associated with centromeres in
CC interphase cells, from late anaphase to the G1 phase. Not detected on
CC centromeres during earlier phases of mitosis. Associated with
CC chromatin.
CC -!- TISSUE SPECIFICITY: Detected in testis. {ECO:0000269|PubMed:17199038}.
CC -!- SIMILARITY: Belongs to the mis18 family. {ECO:0000255|PROSITE-
CC ProRule:PRU01129}.
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DR EMBL; AF387845; AAK70498.1; -; mRNA.
DR EMBL; AF231921; AAF72945.1; -; mRNA.
DR EMBL; AK075281; BAC11517.1; -; mRNA.
DR EMBL; AK312073; BAG35009.1; -; mRNA.
DR EMBL; CH471079; EAX09881.1; -; Genomic_DNA.
DR EMBL; BC042917; AAH42917.1; -; mRNA.
DR CCDS; CCDS13611.1; -.
DR RefSeq; NP_061817.1; NM_018944.2.
DR AlphaFoldDB; Q9NYP9; -.
DR BioGRID; 119875; 88.
DR ComplexPortal; CPX-3272; Mis18 complex.
DR CORUM; Q9NYP9; -.
DR IntAct; Q9NYP9; 77.
DR MINT; Q9NYP9; -.
DR STRING; 9606.ENSP00000290130; -.
DR GlyGen; Q9NYP9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NYP9; -.
DR PhosphoSitePlus; Q9NYP9; -.
DR SwissPalm; Q9NYP9; -.
DR BioMuta; MIS18A; -.
DR DMDM; 12229716; -.
DR EPD; Q9NYP9; -.
DR jPOST; Q9NYP9; -.
DR MassIVE; Q9NYP9; -.
DR MaxQB; Q9NYP9; -.
DR PaxDb; Q9NYP9; -.
DR PeptideAtlas; Q9NYP9; -.
DR PRIDE; Q9NYP9; -.
DR ProteomicsDB; 83261; -.
DR Antibodypedia; 6843; 63 antibodies from 18 providers.
DR DNASU; 54069; -.
DR Ensembl; ENST00000290130.4; ENSP00000290130.3; ENSG00000159055.4.
DR GeneID; 54069; -.
DR KEGG; hsa:54069; -.
DR MANE-Select; ENST00000290130.4; ENSP00000290130.3; NM_018944.3; NP_061817.1.
DR UCSC; uc002ypi.4; human.
DR CTD; 54069; -.
DR GeneCards; MIS18A; -.
DR HGNC; HGNC:1286; MIS18A.
DR HPA; ENSG00000159055; Low tissue specificity.
DR MIM; 618137; gene.
DR neXtProt; NX_Q9NYP9; -.
DR OpenTargets; ENSG00000159055; -.
DR PharmGKB; PA25840; -.
DR VEuPathDB; HostDB:ENSG00000159055; -.
DR eggNOG; ENOG502S9R8; Eukaryota.
DR GeneTree; ENSGT00940000154267; -.
DR HOGENOM; CLU_101031_0_0_1; -.
DR InParanoid; Q9NYP9; -.
DR OMA; EMKMLVM; -.
DR OrthoDB; 1453138at2759; -.
DR PhylomeDB; Q9NYP9; -.
DR TreeFam; TF333200; -.
DR PathwayCommons; Q9NYP9; -.
DR Reactome; R-HSA-606279; Deposition of new CENPA-containing nucleosomes at the centromere.
DR SignaLink; Q9NYP9; -.
DR BioGRID-ORCS; 54069; 505 hits in 1088 CRISPR screens.
DR ChiTaRS; MIS18A; human.
DR GeneWiki; C21orf45; -.
DR GenomeRNAi; 54069; -.
DR Pharos; Q9NYP9; Tbio.
DR PRO; PR:Q9NYP9; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q9NYP9; protein.
DR Bgee; ENSG00000159055; Expressed in oocyte and 172 other tissues.
DR Genevisible; Q9NYP9; HS.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0000775; C:chromosome, centromeric region; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0034080; P:CENP-A containing chromatin assembly; IBA:GO_Central.
DR GO; GO:0007059; P:chromosome segregation; IBA:GO_Central.
DR GO; GO:0044030; P:regulation of DNA methylation; IEA:Ensembl.
DR InterPro; IPR034752; Mis18.
DR InterPro; IPR004910; Yippee/Mis18/Cereblon.
DR Pfam; PF03226; Yippee-Mis18; 1.
DR PROSITE; PS51793; MIS18; 1.
PE 1: Evidence at protein level;
KW Cell cycle; Cell division; Centromere; Chromosome; Isopeptide bond;
KW Metal-binding; Mitosis; Nucleus; Phosphoprotein; Reference proteome;
KW Ubl conjugation; Zinc.
FT CHAIN 1..233
FT /note="Protein Mis18-alpha"
FT /id="PRO_0000079515"
FT DOMAIN 80..178
FT /note="Mis18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01129"
FT BINDING 85
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01129"
FT BINDING 88
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01129"
FT BINDING 141
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01129"
FT BINDING 144
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01129"
FT MOD_RES 36
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 39
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 40
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT CROSSLNK 162
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT MUTAGEN 82
FT /note="V->E: Abolishes interaction with OIP5; when
FT associated with D-176."
FT /evidence="ECO:0000269|PubMed:26921242"
FT MUTAGEN 85
FT /note="C->A: Abolishes location at the centromere."
FT /evidence="ECO:0000269|PubMed:17199038"
FT MUTAGEN 88
FT /note="C->A: Abolishes location at the centromere."
FT /evidence="ECO:0000269|PubMed:17199038"
FT MUTAGEN 134
FT /note="C->A: No effect."
FT /evidence="ECO:0000269|PubMed:17199038"
FT MUTAGEN 141
FT /note="C->A: Abolishes location at the centromere."
FT /evidence="ECO:0000269|PubMed:17199038"
FT MUTAGEN 144
FT /note="C->A: Abolishes location at the centromere."
FT /evidence="ECO:0000269|PubMed:17199038"
FT MUTAGEN 176
FT /note="Y->D: Abolishes interaction with OIP5; when
FT associated with E-82."
FT /evidence="ECO:0000269|PubMed:26921242"
SQ SEQUENCE 233 AA; 25863 MW; A07522806C4B6221 CRC64;
MAGVRSLRCS RGCAGGCECG DKGKCSDSSL LGKRLSEDSS RHQLLQKWAS MWSSMSEDAS
VADMERAQLE EEAAAAEERP LVFLCSGCRR PLGDSLSWVA SQEDTNCILL RCVSCNVSVD
KEQKLSKREK ENGCVLETLC CAGCSLNLGY VYRCTPKNLD YKRDLFCLSV EAIESYVLGS
SEKQIVSEDK ELFNLESRVE IEKSLTQMED VLKALQMKLW EAESKLSFAT CKS