ID K2C78_HUMAN Reviewed; 520 AA.
AC Q8N1N4; A8K4D6; Q5HYM7; Q7RTT2;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 27-MAR-2024, entry version 171.
DE RecName: Full=Keratin, type II cytoskeletal 78;
DE AltName: Full=Cytokeratin-78;
DE Short=CK-78;
DE AltName: Full=Keratin-5b;
DE AltName: Full=Keratin-78;
DE Short=K78;
DE AltName: Full=Type-II keratin Kb40;
GN Name=KRT78; Synonyms=K5B, KB40;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PRO-92.
RC TISSUE=Esophagus, and Tongue;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Esophageal carcinoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP IDENTIFICATION.
RX PubMed=11683385; DOI=10.1242/jcs.114.14.2569;
RA Hesse M., Magin T.M., Weber K.;
RT "Genes for intermediate filament proteins and the draft sequence of the
RT human genome: novel keratin genes and a surprisingly high number of
RT pseudogenes related to keratin genes 8 and 18.";
RL J. Cell Sci. 114:2569-2575(2001).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=15737194; DOI=10.1111/j.0022-202x.2004.23530.x;
RA Rogers M.A., Edler L., Winter H., Langbein L., Beckmann I., Schweizer J.;
RT "Characterization of new members of the human type II keratin gene family
RT and a general evaluation of the keratin gene domain on chromosome
RT 12q13.13.";
RL J. Invest. Dermatol. 124:536-544(2005).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=26340985; DOI=10.1007/s00441-015-2278-5;
RA Langbein L., Eckhart L., Fischer H., Rogers M.A., Praetzel-Wunder S.,
RA Parry D.A., Kittstein W., Schweizer J.;
RT "Localisation of keratin K78 in the basal layer and first suprabasal layers
RT of stratified epithelia completes expression catalogue of type II keratins
RT and provides new insights into sequential keratin expression.";
RL Cell Tissue Res. 363:735-750(2016).
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC Q8N1N4; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-1056564, EBI-725606;
CC Q8N1N4; P02533: KRT14; NbExp=3; IntAct=EBI-1056564, EBI-702178;
CC Q8N1N4; P19012: KRT15; NbExp=3; IntAct=EBI-1056564, EBI-739566;
CC Q8N1N4; P08779: KRT16; NbExp=3; IntAct=EBI-1056564, EBI-356410;
CC Q8N1N4; P08727: KRT19; NbExp=3; IntAct=EBI-1056564, EBI-742756;
CC Q8N1N4; Q7Z3Z0: KRT25; NbExp=3; IntAct=EBI-1056564, EBI-11980019;
CC Q8N1N4; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-1056564, EBI-3044087;
CC Q8N1N4; Q15323: KRT31; NbExp=3; IntAct=EBI-1056564, EBI-948001;
CC Q8N1N4; Q14525: KRT33B; NbExp=5; IntAct=EBI-1056564, EBI-1049638;
CC Q8N1N4; O76011: KRT34; NbExp=3; IntAct=EBI-1056564, EBI-1047093;
CC Q8N1N4; Q92764: KRT35; NbExp=5; IntAct=EBI-1056564, EBI-1058674;
CC Q8N1N4; O76013-2: KRT36; NbExp=3; IntAct=EBI-1056564, EBI-11958506;
CC Q8N1N4; Q6A163: KRT39; NbExp=3; IntAct=EBI-1056564, EBI-11958242;
CC Q8N1N4; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-1056564, EBI-2130429;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N1N4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N1N4-2; Sequence=VSP_030419, VSP_030420;
CC -!- TISSUE SPECIFICITY: In non-keratinising esophageal and vaginal
CC epithelium, strongly expressed in the basal and parabasal/lower
CC suprabasal cell layers with considerably decreased expression in the
CC mid/upper suprabasal layers (at protein level) (PubMed:26340985). A
CC similar gradient from basal to lower suprabasal layers is seen in the
CC partially keratinised dorsal tongue epithelium, in the scalp and in the
CC plantar epidermis (at protein level) (PubMed:26340985). Extension of
CC expression into the suprabasal compartments is distinctly more
CC pronounced in non-keratinising epithelia than in keratinising epithelia
CC and epidermis (at protein level) (PubMed:26340985). In scalp sections,
CC present in the interfollicular epidermis and infundibulum including the
CC entire outer root sheath of the hair follicles and also in the
CC sebocytes (at protein level) (PubMed:26340985). In sweat glands,
CC expressed in peripheral and luminal cells of the lower duct and in
CC peripheral cells of the middle/upper duct with no expression observed
CC in luminal cells (at protein level) (PubMed:26340985). In embryos at
CC the 14th week of pregnancy, detected in basal and parabasal layers but
CC is absent from the uppermost epidermal layer (at protein level)
CC (PubMed:26340985). Expressed in tongue epithelium (PubMed:15737194).
CC {ECO:0000269|PubMed:15737194, ECO:0000269|PubMed:26340985}.
CC -!- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar
CC keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa,
CC respectively).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC -!- SEQUENCE CAUTION:
CC Sequence=DAA00377.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK096419; BAC04782.1; -; mRNA.
DR EMBL; AK290901; BAF83590.1; -; mRNA.
DR EMBL; BX647095; CAI46001.1; -; mRNA.
DR EMBL; AC107016; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BK000646; DAA00377.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471054; EAW96650.1; -; Genomic_DNA.
DR CCDS; CCDS73473.1; -. [Q8N1N4-2]
DR CCDS; CCDS8840.1; -. [Q8N1N4-1]
DR RefSeq; NP_001287743.1; NM_001300814.1. [Q8N1N4-2]
DR RefSeq; NP_775487.2; NM_173352.3. [Q8N1N4-1]
DR AlphaFoldDB; Q8N1N4; -.
DR SMR; Q8N1N4; -.
DR BioGRID; 128199; 74.
DR IntAct; Q8N1N4; 29.
DR STRING; 9606.ENSP00000306261; -.
DR GlyGen; Q8N1N4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N1N4; -.
DR PhosphoSitePlus; Q8N1N4; -.
DR SwissPalm; Q8N1N4; -.
DR BioMuta; KRT78; -.
DR DMDM; 166218809; -.
DR EPD; Q8N1N4; -.
DR jPOST; Q8N1N4; -.
DR MassIVE; Q8N1N4; -.
DR PaxDb; 9606-ENSP00000306261; -.
DR PeptideAtlas; Q8N1N4; -.
DR PRIDE; Q8N1N4; -.
DR ProteomicsDB; 71623; -. [Q8N1N4-1]
DR ProteomicsDB; 71624; -. [Q8N1N4-2]
DR Antibodypedia; 51417; 107 antibodies from 16 providers.
DR DNASU; 196374; -.
DR Ensembl; ENST00000304620.5; ENSP00000306261.4; ENSG00000170423.13. [Q8N1N4-1]
DR Ensembl; ENST00000359499.8; ENSP00000352479.4; ENSG00000170423.13. [Q8N1N4-2]
DR GeneID; 196374; -.
DR KEGG; hsa:196374; -.
DR MANE-Select; ENST00000304620.5; ENSP00000306261.4; NM_173352.4; NP_775487.2.
DR UCSC; uc001sbc.1; human. [Q8N1N4-1]
DR AGR; HGNC:28926; -.
DR CTD; 196374; -.
DR GeneCards; KRT78; -.
DR HGNC; HGNC:28926; KRT78.
DR HPA; ENSG00000170423; Tissue enriched (esophagus).
DR MIM; 611159; gene.
DR neXtProt; NX_Q8N1N4; -.
DR OpenTargets; ENSG00000170423; -.
DR PharmGKB; PA147357807; -.
DR VEuPathDB; HostDB:ENSG00000170423; -.
DR eggNOG; ENOG502SPJX; Eukaryota.
DR GeneTree; ENSGT00940000162461; -.
DR HOGENOM; CLU_012560_5_2_1; -.
DR InParanoid; Q8N1N4; -.
DR OMA; RGRNSHT; -.
DR OrthoDB; 4640531at2759; -.
DR PhylomeDB; Q8N1N4; -.
DR TreeFam; TF317854; -.
DR PathwayCommons; Q8N1N4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q8N1N4; -.
DR BioGRID-ORCS; 196374; 19 hits in 1141 CRISPR screens.
DR GeneWiki; KRT78; -.
DR GenomeRNAi; 196374; -.
DR Pharos; Q8N1N4; Tbio.
DR PRO; PR:Q8N1N4; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8N1N4; Protein.
DR Bgee; ENSG00000170423; Expressed in lower esophagus mucosa and 113 other cell types or tissues.
DR ExpressionAtlas; Q8N1N4; baseline and differential.
DR Genevisible; Q8N1N4; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0045095; C:keratin filament; IBA:GO_Central.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR Gene3D; 1.20.5.170; -; 1.
DR Gene3D; 1.20.5.500; Single helix bin; 1.
DR Gene3D; 1.20.5.1160; Vasodilator-stimulated phosphoprotein; 1.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR PANTHER; PTHR45616; GATA-TYPE DOMAIN-CONTAINING PROTEIN; 1.
DR PANTHER; PTHR45616:SF18; KERATIN, TYPE II CYTOSKELETAL 78; 1.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
DR SUPFAM; SSF64593; Intermediate filament protein, coiled coil region; 3.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Intermediate filament; Keratin;
KW Reference proteome.
FT CHAIN 1..520
FT /note="Keratin, type II cytoskeletal 78"
FT /id="PRO_0000314891"
FT DOMAIN 111..424
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..110
FT /note="Head"
FT REGION 111..146
FT /note="Coil 1A"
FT REGION 147..165
FT /note="Linker 1"
FT REGION 166..258
FT /note="Coil 1B"
FT REGION 259..281
FT /note="Linker 12"
FT REGION 282..421
FT /note="Coil 2"
FT REGION 422..520
FT /note="Tail"
FT SITE 362
FT /note="Stutter"
FT VAR_SEQ 1..110
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_030419"
FT VAR_SEQ 111..127
FT /note="ETQEIRTLNNQFASFID -> MEGHEASPAQVGQGDRG (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_030420"
FT VARIANT 25
FT /note="R -> H (in dbSNP:rs11170289)"
FT /id="VAR_038109"
FT VARIANT 92
FT /note="L -> P (in dbSNP:rs2013335)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038110"
FT VARIANT 224
FT /note="G -> A (in dbSNP:rs2682343)"
FT /id="VAR_038111"
FT VARIANT 238
FT /note="A -> T (in dbSNP:rs10876360)"
FT /id="VAR_038112"
FT CONFLICT 250
FT /note="N -> S (in Ref. 2; CAI46001)"
FT /evidence="ECO:0000305"
FT CONFLICT 259
FT /note="T -> A (in Ref. 1; BAC04782)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 56866 MW; 4502110AAA408E86 CRC64;
MSLSPCRAQR GFSARSACSA RSRGRSRGGF SSRGGFSSRS LNSFGGCLEG SRGSTWGSGG
RLGVRFGEWS GGPGLSLCPP GGIQEVTINQ NLLTPLKIEI DPQFQVVRTQ ETQEIRTLNN
QFASFIDKVR FLEQQNKVLE TKWHLLQQQG LSGSQQGLEP VFEACLDQLR KQLEQLQGER
GALDAELKAC RDQEEEYKSK YEEEAHRRAT LENDFVVLKK DVDGVFLSKM ELEGKLEALR
EYLYFLKHLN EEELGQLQTQ ASDTSVVLSM DNNRYLDFSS IITEVRARYE EIARSSKAEA
EALYQTKYQE LQVSAQLHGD RMQETKVQIS QLHQEIQRLQ SQTENLKKQN ASLQAAITDA
EQRGELALKD AQAKVDELEA ALRMAKQNLA RLLCEYQELT STKLSLDVEI ATYRRLLEGE
ECRMSGECTS QVTISSVGGS AVMSGGVGGG LGSTCGLGSG KGSPGSCCTS IVTGGSNIIL
GSGKDPVLDS CSVSGSSAGS SCHTILKKTV ESSLKTSITY
//
