K1C16_HUMAN
ID K1C16_HUMAN Reviewed; 473 AA.
AC P08779; A8K488; P30654; Q16402; Q9UBG8;
DT 01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 4.
DT 03-AUG-2022, entry version 213.
DE RecName: Full=Keratin, type I cytoskeletal 16;
DE AltName: Full=Cytokeratin-16;
DE Short=CK-16;
DE AltName: Full=Keratin-16;
DE Short=K16;
GN Name=KRT16; Synonyms=KRT16A;
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 [GENOMIC DNA].
RX PubMed=2431270; DOI=10.1128/mcb.6.2.539-548.1986;
RA Raychaudhury A., Marchuk D., Lindhurst M., Fuchs E.;
RT "Three tightly linked genes encoding human type I keratins: conservation of
RT sequence in the 5'-untranslated leader and 5'-upstream regions of
RT coexpressed keratin genes.";
RL Mol. Cell. Biol. 6:539-548(1986).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=2451124; DOI=10.1128/mcb.8.2.722-736.1988;
RA Rosenberg M., Raychaudhury A., Shows T.B., le Beau M.M., Fuchs E.;
RT "A group of type I keratin genes on human chromosome 17: characterization
RT and expression.";
RL Mol. Cell. Biol. 8:722-736(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Keratinocyte;
RX PubMed=7487986; DOI=10.1006/bbrc.1995.2495;
RA Paladini R.D., Takahashi K., Gant T.M., Coulombe P.A.;
RT "cDNA cloning and bacterial expression of the human type I keratin 16.";
RL Biochem. Biophys. Res. Commun. 215:517-523(1995).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RA Smith F.J.D., Fisher M.P., Healy E., Rees J.L., McKusick V.A.,
RA Bonifas J.M., Epstein E.H. Jr., Tan E., Uitto J., McLean W.H.I.;
RT "Cloning of multiple keratin 16 genes: genotype-phenotype correlation and
RT protein expression studies in pachyonychia congenita type 1 and focal
RT palmoplantar keratoderma.";
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Mammary gland;
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 [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
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 [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-134, AND VARIANT PC1 PRO-132.
RX PubMed=7539673; DOI=10.1038/ng0395-273;
RA McLean W.H.I., Rugg E.L., Lunny D.P., Morley S.M., Lane E.B., Swensson O.,
RA Dopping-Hepenstal P.J.C., Griffiths W.A.D., Eady R.A.J., Higgins C.,
RA Navsaria H.A., Leigh I.M., Strachan T., Kunkeler L., Munro C.S.;
RT "Keratin 16 and keratin 17 mutations cause pachyonychia congenita.";
RL Nat. Genet. 9:273-278(1995).
RN [9]
RP PROTEIN SEQUENCE OF 137-148; 178-195 AND 264-283.
RC TISSUE=Keratinocyte;
RX PubMed=1286667; DOI=10.1002/elps.11501301199;
RA Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E.,
RA Vandekerckhove J.;
RT "Microsequences of 145 proteins recorded in the two-dimensional gel protein
RT database of normal human epidermal keratinocytes.";
RL Electrophoresis 13:960-969(1992).
RN [10]
RP MASS SPECTROMETRY.
RC TISSUE=Mammary cancer;
RX PubMed=11840567;
RX DOI=10.1002/1615-9861(200202)2:2<212::aid-prot212>3.0.co;2-h;
RA Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A.,
RA Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J.,
RA Zvelebil M.J.;
RT "Cluster analysis of an extensive human breast cancer cell line protein
RT expression map database.";
RL Proteomics 2:212-223(2002).
RN [11]
RP INTERACTION WITH TCHP.
RX PubMed=15731013; DOI=10.1242/jcs.01667;
RA Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T.,
RA Usukura J., Inagaki M.;
RT "Identification of trichoplein, a novel keratin filament-binding protein.";
RL J. Cell Sci. 118:1081-1090(2005).
RN [12]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [15]
RP TISSUE SPECIFICITY.
RX PubMed=26758872; DOI=10.1093/hmg/ddw001;
RA Allen E.H., Courtney D.G., Atkinson S.D., Moore J.E., Mairs L.,
RA Poulsen E.T., Schiroli D., Maurizi E., Cole C., Hickerson R.P., James J.,
RA Murgatroyd H., Smith F.J., MacEwen C., Enghild J.J., Nesbit M.A.,
RA Leslie Pedrioli D.M., McLean W.H., Moore C.B.;
RT "Keratin 12 missense mutation induces the unfolded protein response and
RT apoptosis in Meesmann epithelial corneal dystrophy.";
RL Hum. Mol. Genet. 25:1176-1191(2016).
RN [16]
RP VARIANTS FNEPPK1 SER-125 AND CYS-127.
RX PubMed=8595410; DOI=10.1093/hmg/4.10.1875;
RA Shamsheer M.K., Navsaria H.A., Stevens H.P., Ratnavel R.C., Purkis P.E.,
RA McLean W.H.I., Cook L.J., Griffiths W.A.D., Geschmeissner S., Spurr N.,
RA Leigh I.M.;
RT "Novel mutations in keratin 16 gene underly focal nonepidermolytic
RT palmoplantar keratoderma (NEPPK) in two families.";
RL Hum. Mol. Genet. 4:1875-1881(1995).
RN [17]
RP VARIANTS PC1 PRO-122 AND PRO-127.
RX PubMed=10606845; DOI=10.1046/j.1365-2133.1999.03198.x;
RA Smith F.J.D., Del Monaco M., Steijlen P.M., Munro C.S., Morvay M.,
RA Coleman C.M., Rietveld F.J.R., Uitto J., McLean W.H.I.;
RT "Novel proline substitution mutations in keratin 16 in two cases of
RT pachyonychia congenita type 1.";
RL Br. J. Dermatol. 141:1010-1016(1999).
RN [18]
RP VARIANT PC1 SER-130 DEL.
RX PubMed=10521820;
RX DOI=10.1002/(sici)1097-0223(199910)19:10<941::aid-pd663>3.0.co;2-w;
RA Smith F.J., McKusick V.A., Nielsen K., Pfendner E., Uitto J.,
RA McLean W.H.I.;
RT "Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of
RT pachyonychia congenita type 1.";
RL Prenat. Diagn. 19:941-946(1999).
RN [19]
RP VARIANT PC1 ARG-124.
RX PubMed=10839714; DOI=10.1034/j.1600-0625.2000.009003170.x;
RA Smith F.J., Fisher M.P., Healy E., Rees J.L., Bonifas J.M.,
RA Epstein E.H. Jr., Tan E.M., Uitto J., McLean W.H.I.;
RT "Novel keratin 16 mutations and protein expression studies in pachyonychia
RT congenita type 1 and focal palmoplantar keratoderma.";
RL Exp. Dermatol. 9:170-177(2000).
RN [20]
RP VARIANT 104-GLY--ALA-107 DEL.
RX PubMed=10844556; DOI=10.1046/j.1523-1747.2000.00983.x;
RA Terrinoni A., Puddu P., Didona B., De Laurenzi V., Candi E., Smith F.J.,
RA McLean W.H.I., Melino G.;
RT "A mutation in the V1 domain of K16 is responsible for unilateral
RT palmoplantar verrucous nevus.";
RL J. Invest. Dermatol. 114:1136-1140(2000).
RN [21]
RP VARIANT PC1 ASN-354.
RX PubMed=11359398; DOI=10.1046/j.1365-2133.2001.04199.x;
RA Connors J.B., Rahil A.K., Smith F.J.D., McLean W.H.I., Milstone L.M.;
RT "Delayed-onset pachyonychia congenita associated with a novel mutation in
RT the central 2B domain of keratin 16.";
RL Br. J. Dermatol. 144:1058-1062(2001).
RN [22]
RP VARIANTS PC1 THR-121 AND PC1 GLN-128.
RX PubMed=11886499; DOI=10.1046/j.0022-202x.2001.01565.x;
RA Terrinoni A., Smith F.J.D., Didona B., Canzona F., Paradisi M., Huber M.,
RA Hohl D., David A., Verloes A., Leigh I.M., Munro C.S., Melino G.,
RA McLean W.H.I.;
RT "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and
RT K17 in 13 cases of pachyonychia congenita.";
RL J. Invest. Dermatol. 117:1391-1396(2001).
RN [23]
RP VARIANTS PC1 PRO-124; HIS-124; ASP-125; SER-125; CYS-127 AND PRO-132.
RX PubMed=16250206; DOI=10.1111/j.1087-0024.2005.10204.x;
RA Smith F.J., Liao H., Cassidy A.J., Stewart A., Hamill K.J., Wood P.,
RA Joval I., van Steensel M.A., Bjoerck E., Callif-Daley F., Pals G.,
RA Collins P., Leachman S.A., Munro C.S., McLean W.H.;
RT "The genetic basis of pachyonychia congenita.";
RL J. Investig. Dermatol. Symp. Proc. 10:21-30(2005).
RN [24]
RP VARIANTS PC1 SER-125; PRO-127 AND GLN-128.
RX PubMed=17719747; DOI=10.1016/j.jdermsci.2007.07.003;
RA Liao H., Sayers J.M., Wilson N.J., Irvine A.D., Mellerio J.E., Baselga E.,
RA Bayliss S.J., Uliana V., Fimiani M., Lane E.B., McLean W.H., Leachman S.A.,
RA Smith F.J.;
RT "A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia
RT congenita.";
RL J. Dermatol. Sci. 48:199-205(2007).
RN [25]
RP VARIANTS PC1 SER-125; PRO-127 AND PRO-132.
RX PubMed=21326300; DOI=10.1038/jid.2011.20;
RA Wilson N.J., Leachman S.A., Hansen C.D., McMullan A.C., Milstone L.M.,
RA Schwartz M.E., McLean W.H., Hull P.R., Smith F.J.;
RT "A large mutational study in pachyonychia congenita.";
RL J. Invest. Dermatol. 131:1018-1024(2011).
RN [26]
RP VARIANTS PC1 SER-125; ASP-125; PRO-127 AND CYS-127.
RX PubMed=21160496; DOI=10.1038/jid.2010.373;
RA Fu T., Leachman S.A., Wilson N.J., Smith F.J., Schwartz M.E., Tang J.Y.;
RT "Genotype-phenotype correlations among pachyonychia congenita patients with
RT K16 mutations.";
RL J. Invest. Dermatol. 131:1025-1028(2011).
RN [27]
RP VARIANT PC1 GLY-125.
RX PubMed=22668561; DOI=10.1684/ejd.2012.1773;
RA Du Z.F., Xu C.M., Zhao Y., Liu W.T., Chen X.L., Chen C.Y., Fang H.,
RA Ke H.P., Zhang X.N.;
RT "Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese
RT pachyonychia congenita pedigrees with fissured tongue or diffuse plantar
RT keratoderma.";
RL Eur. J. Dermatol. 22:476-480(2012).
RN [28]
RP VARIANT PC1 PRO-421.
RX PubMed=24118415; DOI=10.1111/exd.12262;
RA Paris F., Hurtado C., Azon A., Aguado L., Vizmanos J.L.;
RT "A new KRT16 mutation associated with a phenotype of pachyonychia
RT congenita.";
RL Exp. Dermatol. 22:838-839(2013).
CC -!- FUNCTION: Epidermis-specific type I keratin that plays a key role in
CC skin. Acts as a regulator of innate immunity in response to skin
CC barrier breach: required for some inflammatory checkpoint for the skin
CC barrier maintenance. {ECO:0000250|UniProtKB:Q9Z2K1}.
CC -!- SUBUNIT: Heterodimer of a type I and a type II keratin. KRT16
CC associates with KRT6 isomers (KRT6A or KRT6B) (By similarity).
CC Interacts with TCHP (PubMed:15731013). Interacts with TRADD (By
CC similarity). {ECO:0000250|UniProtKB:Q9Z2K1,
CC ECO:0000269|PubMed:15731013}.
CC -!- INTERACTION:
CC P08779; A2BDD9: AMOT; NbExp=3; IntAct=EBI-356410, EBI-17286414;
CC P08779; P53365: ARFIP2; NbExp=3; IntAct=EBI-356410, EBI-638194;
CC P08779; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-356410, EBI-8643161;
CC P08779; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-356410, EBI-747505;
CC P08779; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-356410, EBI-11530605;
CC P08779; Q8IYE0: CCDC146; NbExp=3; IntAct=EBI-356410, EBI-10749669;
CC P08779; Q96LX7-5: CCDC17; NbExp=3; IntAct=EBI-356410, EBI-12165781;
CC P08779; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-356410, EBI-10175300;
CC P08779; P24863: CCNC; NbExp=3; IntAct=EBI-356410, EBI-395261;
CC P08779; Q07002: CDK18; NbExp=3; IntAct=EBI-356410, EBI-746238;
CC P08779; Q9UIA0: CYTH4; NbExp=3; IntAct=EBI-356410, EBI-11521003;
CC P08779; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-356410, EBI-6255981;
CC P08779; O95995: GAS8; NbExp=3; IntAct=EBI-356410, EBI-1052570;
CC P08779; P50151: GNG10; NbExp=3; IntAct=EBI-356410, EBI-10211741;
CC P08779; O14964: HGS; NbExp=3; IntAct=EBI-356410, EBI-740220;
CC P08779; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-356410, EBI-14069005;
CC P08779; Q9NSK0: KLC4; NbExp=3; IntAct=EBI-356410, EBI-949319;
CC P08779; P04264: KRT1; NbExp=3; IntAct=EBI-356410, EBI-298429;
CC P08779; P35908: KRT2; NbExp=3; IntAct=EBI-356410, EBI-1247312;
CC P08779; P12035: KRT3; NbExp=3; IntAct=EBI-356410, EBI-2430095;
CC P08779; P19013: KRT4; NbExp=3; IntAct=EBI-356410, EBI-2371606;
CC P08779; P13647: KRT5; NbExp=3; IntAct=EBI-356410, EBI-702187;
CC P08779; P02538: KRT6A; NbExp=3; IntAct=EBI-356410, EBI-702198;
CC P08779; P48668: KRT6C; NbExp=3; IntAct=EBI-356410, EBI-2564105;
CC P08779; Q3SY84: KRT71; NbExp=3; IntAct=EBI-356410, EBI-2952676;
CC P08779; Q14CN4: KRT72; NbExp=3; IntAct=EBI-356410, EBI-1221280;
CC P08779; Q86Y46-2: KRT73; NbExp=3; IntAct=EBI-356410, EBI-12039441;
CC P08779; Q7RTS7: KRT74; NbExp=3; IntAct=EBI-356410, EBI-968660;
CC P08779; Q01546: KRT76; NbExp=3; IntAct=EBI-356410, EBI-2952745;
CC P08779; Q8N1N4: KRT78; NbExp=3; IntAct=EBI-356410, EBI-1056564;
CC P08779; Q5XKE5: KRT79; NbExp=3; IntAct=EBI-356410, EBI-2514135;
CC P08779; P05787: KRT8; NbExp=3; IntAct=EBI-356410, EBI-297852;
CC P08779; Q6KB66-2: KRT80; NbExp=3; IntAct=EBI-356410, EBI-11999246;
CC P08779; Q14533: KRT81; NbExp=3; IntAct=EBI-356410, EBI-739648;
CC P08779; P78385: KRT83; NbExp=3; IntAct=EBI-356410, EBI-10221390;
CC P08779; P78386: KRT85; NbExp=3; IntAct=EBI-356410, EBI-1049371;
CC P08779; O43790: KRT86; NbExp=3; IntAct=EBI-356410, EBI-9996498;
CC P08779; P25800: LMO1; NbExp=3; IntAct=EBI-356410, EBI-8639312;
CC P08779; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-356410, EBI-739832;
CC P08779; O95983-2: MBD3; NbExp=3; IntAct=EBI-356410, EBI-11978579;
CC P08779; Q16512: PKN1; NbExp=3; IntAct=EBI-356410, EBI-602382;
CC P08779; Q9UGP5-2: POLL; NbExp=3; IntAct=EBI-356410, EBI-10320765;
CC P08779; Q6NYC8: PPP1R18; NbExp=3; IntAct=EBI-356410, EBI-2557469;
CC P08779; P54646: PRKAA2; NbExp=3; IntAct=EBI-356410, EBI-1383852;
CC P08779; P41219: PRPH; NbExp=3; IntAct=EBI-356410, EBI-752074;
CC P08779; Q3MIT2: PUS10; NbExp=3; IntAct=EBI-356410, EBI-11983583;
CC P08779; Q9C0C4: SEMA4C; NbExp=3; IntAct=EBI-356410, EBI-10303490;
CC P08779; Q96ES7: SGF29; NbExp=3; IntAct=EBI-356410, EBI-743117;
CC P08779; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-356410, EBI-358489;
CC P08779; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-356410, EBI-455078;
CC P08779; O95295: SNAPIN; NbExp=3; IntAct=EBI-356410, EBI-296723;
CC P08779; Q9BT92: TCHP; NbExp=3; IntAct=EBI-356410, EBI-740781;
CC P08779; Q99816: TSG101; NbExp=3; IntAct=EBI-356410, EBI-346882;
CC P08779; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-356410, EBI-9090990;
CC P08779; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-356410, EBI-6116822;
CC P08779; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-356410, EBI-739895;
CC -!- TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein
CC level). {ECO:0000269|PubMed:26758872}.
CC -!- MASS SPECTROMETRY: Mass=50924.66; Method=MALDI;
CC Evidence={ECO:0000269|PubMed:11840567};
CC -!- DISEASE: Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal
CC dominant ectodermal dysplasia characterized by hypertrophic nail
CC dystrophy resulting in onchyogryposis (thickening and increase in
CC curvature of the nail), palmoplantar keratoderma, follicular
CC hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and
CC feet is usually present. {ECO:0000269|PubMed:10521820,
CC ECO:0000269|PubMed:10606845, ECO:0000269|PubMed:10839714,
CC ECO:0000269|PubMed:11359398, ECO:0000269|PubMed:11886499,
CC ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:17719747,
CC ECO:0000269|PubMed:21160496, ECO:0000269|PubMed:21326300,
CC ECO:0000269|PubMed:22668561, ECO:0000269|PubMed:24118415,
CC ECO:0000269|PubMed:7539673}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Keratoderma, palmoplantar, non-epidermolytic, focal 1
CC (FNEPPK1) [MIM:613000]: A dermatological disorder characterized by non-
CC epidermolytic palmoplantar keratoderma limited to the pressure points
CC on the balls of the feet, with later mild involvement on the palms.
CC Oral, genital and follicular keratotic lesions are often present.
CC {ECO:0000269|PubMed:8595410}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=KRT16 and KRT17 are coexpressed only in pathological
CC situations such as metaplasias and carcinomas of the uterine cervix and
CC in psoriasis vulgaris.
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 -!- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database;
CC URL="http://www.interfil.org";
CC ---------------------------------------------------------------------------
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DR EMBL; M28439; AAA59460.1; -; Genomic_DNA.
DR EMBL; M28432; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28433; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28434; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28435; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28436; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28437; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; M28438; AAA59460.1; JOINED; Genomic_DNA.
DR EMBL; S79867; AAB35421.1; -; mRNA.
DR EMBL; AF061809; AAD15829.1; -; Genomic_DNA.
DR EMBL; AF061812; AAC99326.1; -; mRNA.
DR EMBL; AK290853; BAF83542.1; -; mRNA.
DR EMBL; CH471152; EAW60749.1; -; Genomic_DNA.
DR EMBL; BC039169; AAH39169.1; -; mRNA.
DR EMBL; S78514; AAB34564.1; -; Genomic_DNA.
DR CCDS; CCDS11401.1; -.
DR PIR; A33652; A33652.
DR PIR; JC4313; JC4313.
DR RefSeq; NP_005548.2; NM_005557.3.
DR AlphaFoldDB; P08779; -.
DR SMR; P08779; -.
DR BioGRID; 110066; 148.
DR IntAct; P08779; 83.
DR MINT; P08779; -.
DR STRING; 9606.ENSP00000301653; -.
DR DrugBank; DB01593; Zinc.
DR DrugBank; DB14487; Zinc acetate.
DR GlyGen; P08779; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P08779; -.
DR PhosphoSitePlus; P08779; -.
DR SwissPalm; P08779; -.
DR BioMuta; KRT16; -.
DR DMDM; 23503075; -.
DR jPOST; P08779; -.
DR MassIVE; P08779; -.
DR PaxDb; P08779; -.
DR PeptideAtlas; P08779; -.
DR PRIDE; P08779; -.
DR ProteomicsDB; 52166; -.
DR Antibodypedia; 3602; 650 antibodies from 37 providers.
DR DNASU; 3868; -.
DR Ensembl; ENST00000301653.9; ENSP00000301653.3; ENSG00000186832.9.
DR GeneID; 3868; -.
DR KEGG; hsa:3868; -.
DR MANE-Select; ENST00000301653.9; ENSP00000301653.3; NM_005557.4; NP_005548.2.
DR UCSC; uc002hxg.5; human.
DR CTD; 3868; -.
DR DisGeNET; 3868; -.
DR GeneCards; KRT16; -.
DR GeneReviews; KRT16; -.
DR HGNC; HGNC:6423; KRT16.
DR HPA; ENSG00000186832; Tissue enhanced (esophagus, skin, vagina).
DR MalaCards; KRT16; -.
DR MIM; 148067; gene.
DR MIM; 167200; phenotype.
DR MIM; 613000; phenotype.
DR neXtProt; NX_P08779; -.
DR OpenTargets; ENSG00000186832; -.
DR Orphanet; 2199; Epidermolytic palmoplantar keratoderma.
DR Orphanet; 448264; Isolated focal non-epidermolytic palmoplantar keratoderma.
DR Orphanet; 2309; Pachyonychia congenita.
DR PharmGKB; PA30210; -.
DR VEuPathDB; HostDB:ENSG00000186832; -.
DR eggNOG; ENOG502QTM6; Eukaryota.
DR GeneTree; ENSGT00940000154602; -.
DR HOGENOM; CLU_012560_8_3_1; -.
DR InParanoid; P08779; -.
DR OMA; GHQTRPI; -.
DR OrthoDB; 798081at2759; -.
DR PhylomeDB; P08779; -.
DR TreeFam; TF332742; -.
DR PathwayCommons; P08779; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P08779; -.
DR SIGNOR; P08779; -.
DR BioGRID-ORCS; 3868; 23 hits in 1069 CRISPR screens.
DR ChiTaRS; KRT16; human.
DR GeneWiki; Keratin_16; -.
DR GenomeRNAi; 3868; -.
DR Pharos; P08779; Tbio.
DR PRO; PR:P08779; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P08779; protein.
DR Bgee; ENSG00000186832; Expressed in gingival epithelium and 112 other tissues.
DR ExpressionAtlas; P08779; baseline and differential.
DR Genevisible; P08779; HS.
DR GO; GO:0001533; C:cornified envelope; IEA:Ensembl.
DR GO; GO:0005856; C:cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005882; C:intermediate filament; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; NAS:UniProtKB.
DR GO; GO:0007568; P:aging; IDA:UniProtKB.
DR GO; GO:0007010; P:cytoskeleton organization; NAS:UniProtKB.
DR GO; GO:0030855; P:epithelial cell differentiation; IBA:GO_Central.
DR GO; GO:0061436; P:establishment of skin barrier; ISS:UniProtKB.
DR GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
DR GO; GO:0006954; P:inflammatory response; ISS:UniProtKB.
DR GO; GO:0045087; P:innate immune response; ISS:UniProtKB.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; ISS:UniProtKB.
DR GO; GO:0030216; P:keratinocyte differentiation; ISS:UniProtKB.
DR GO; GO:0051546; P:keratinocyte migration; ISS:UniProtKB.
DR GO; GO:0002009; P:morphogenesis of an epithelium; ISS:UniProtKB.
DR GO; GO:0030336; P:negative regulation of cell migration; IDA:UniProtKB.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR002957; Keratin_I.
DR PANTHER; PTHR23239; PTHR23239; 1.
DR Pfam; PF00038; Filament; 1.
DR PRINTS; PR01248; TYPE1KERATIN.
DR SMART; SM01391; Filament; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Direct protein sequencing; Disease variant;
KW Ectodermal dysplasia; Intermediate filament; Keratin;
KW Palmoplantar keratoderma; Reference proteome.
FT CHAIN 1..473
FT /note="Keratin, type I cytoskeletal 16"
FT /id="PRO_0000063662"
FT DOMAIN 117..428
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..116
FT /note="Head"
FT REGION 117..152
FT /note="Coil 1A"
FT REGION 153..170
FT /note="Linker 1"
FT REGION 171..262
FT /note="Coil 1B"
FT REGION 263..285
FT /note="Linker 12"
FT REGION 286..424
FT /note="Coil 2"
FT REGION 425..473
FT /note="Tail"
FT REGION 428..473
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 104..107
FT /note="Missing (rare variant; found as somatic mutation in
FT a patient with localized epidermolytic hyperkeratosis in
FT the right palm and the right sole; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:10844556"
FT /id="VAR_012854"
FT VARIANT 121
FT /note="M -> T (in PC1; dbSNP:rs28928894)"
FT /evidence="ECO:0000269|PubMed:11886499"
FT /id="VAR_017065"
FT VARIANT 122
FT /note="Q -> P (in PC1; dbSNP:rs59349773)"
FT /evidence="ECO:0000269|PubMed:10606845"
FT /id="VAR_012855"
FT VARIANT 124
FT /note="L -> H (in PC1; dbSNP:rs58293603)"
FT /evidence="ECO:0000269|PubMed:16250206"
FT /id="VAR_072436"
FT VARIANT 124
FT /note="L -> P (in PC1; dbSNP:rs58293603)"
FT /evidence="ECO:0000269|PubMed:16250206"
FT /id="VAR_072437"
FT VARIANT 124
FT /note="L -> R (in PC1; dbSNP:rs58293603)"
FT /evidence="ECO:0000269|PubMed:10839714"
FT /id="VAR_013837"
FT VARIANT 125
FT /note="N -> D (in PC1; dbSNP:rs58608173)"
FT /evidence="ECO:0000269|PubMed:16250206,
FT ECO:0000269|PubMed:21160496"
FT /id="VAR_072438"
FT VARIANT 125
FT /note="N -> G (in PC1; requires 2 nucleotide substitutions;
FT dbSNP:rs587777717)"
FT /evidence="ECO:0000269|PubMed:22668561"
FT /id="VAR_072439"
FT VARIANT 125
FT /note="N -> S (in FNEPPK1 and PC1; dbSNP:rs60723330)"
FT /evidence="ECO:0000269|PubMed:16250206,
FT ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:21160496,
FT ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:8595410"
FT /id="VAR_009183"
FT VARIANT 127
FT /note="R -> C (in FNEPPK1 and PC1; dbSNP:rs59856285)"
FT /evidence="ECO:0000269|PubMed:16250206,
FT ECO:0000269|PubMed:21160496, ECO:0000269|PubMed:8595410"
FT /id="VAR_009184"
FT VARIANT 127
FT /note="R -> P (in PC1; dbSNP:rs57424749)"
FT /evidence="ECO:0000269|PubMed:10606845,
FT ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:21160496,
FT ECO:0000269|PubMed:21326300"
FT /id="VAR_012856"
FT VARIANT 128
FT /note="L -> Q (in PC1; dbSNP:rs28928895)"
FT /evidence="ECO:0000269|PubMed:11886499,
FT ECO:0000269|PubMed:17719747"
FT /id="VAR_017066"
FT VARIANT 130
FT /note="Missing (in PC1)"
FT /evidence="ECO:0000269|PubMed:10521820"
FT /id="VAR_035440"
FT VARIANT 132
FT /note="L -> P (in PC1; dbSNP:rs60944949)"
FT /evidence="ECO:0000269|PubMed:16250206,
FT ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:7539673"
FT /id="VAR_003846"
FT VARIANT 354
FT /note="K -> N (in PC1; late onset; dbSNP:rs59328451)"
FT /evidence="ECO:0000269|PubMed:11359398"
FT /id="VAR_017067"
FT VARIANT 421
FT /note="L -> P (in PC1)"
FT /evidence="ECO:0000269|PubMed:24118415"
FT /id="VAR_072440"
FT CONFLICT 2
FT /note="T -> A (in Ref. 3; AAB35421)"
FT /evidence="ECO:0000305"
FT CONFLICT 26
FT /note="G -> A (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 38
FT /note="G -> A (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 41..43
FT /note="RAP -> PA (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 49..50
FT /note="GL -> A (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 187..189
FT /note="QPI -> HAL (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 208..211
FT /note="HELA -> ARTG (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 352
FT /note="S -> R (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
FT CONFLICT 452..460
FT /note="SRQTRPILK -> AVRPGPSS (in Ref. 1; AAA59460)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 473 AA; 51268 MW; BA8CE9F4716A88A4 CRC64;
MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL SVSSRFSSGG
ACGLGGGYGG GFSSSSSFGS GFGGGYGGGL GAGFGGGLGA GFGGGFAGGD GLLVGSEKVT
MQNLNDRLAS YLDKVRALEE ANADLEVKIR DWYQRQRPSE IKDYSPYFKT IEDLRNKIIA
ATIENAQPIL QIDNARLAAD DFRTKYEHEL ALRQTVEADV NGLRRVLDEL TLARTDLEMQ
IEGLKEELAY LRKNHEEEML ALRGQTGGDV NVEMDAAPGV DLSRILNEMR DQYEQMAEKN
RRDAETWFLS KTEELNKEVA SNSELVQSSR SEVTELRRVL QGLEIELQSQ LSMKASLENS
LEETKGRYCM QLSQIQGLIG SVEEQLAQLR CEMEQQSQEY QILLDVKTRL EQEIATYRRL
LEGEDAHLSS QQASGQSYSS REVFTSSSSS SSRQTRPILK EQSSSSFSQG QSS
