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Keratin, type I cytoskeletal 16 (Cytokeratin-16) (CK-16) (Keratin-16) (K16)

 K1C16_HUMAN             Reviewed;         473 AA.
P08779; A8K488; P30654; Q16402; Q9UBG8;
01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
23-JAN-2007, sequence version 4.
25-OCT-2017, entry version 182.
RecName: Full=Keratin, type I cytoskeletal 16;
AltName: Full=Cytokeratin-16;
Short=CK-16;
AltName: Full=Keratin-16;
Short=K16;
Name=KRT16; Synonyms=KRT16A;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2431270; DOI=10.1128/MCB.6.2.539;
Raychaudhury A., Marchuk D., Lindhurst M., Fuchs E.;
"Three tightly linked genes encoding human type I keratins:
conservation of sequence in the 5'-untranslated leader and 5'-upstream
regions of coexpressed keratin genes.";
Mol. Cell. Biol. 6:539-548(1986).
[2]
SEQUENCE REVISION.
PubMed=2451124; DOI=10.1128/MCB.8.2.722;
Rosenberg M., Raychaudhury A., Shows T.B., le Beau M.M., Fuchs E.;
"A group of type I keratin genes on human chromosome 17:
characterization and expression.";
Mol. Cell. Biol. 8:722-736(1988).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Keratinocyte;
PubMed=7487986; DOI=10.1006/bbrc.1995.2495;
Paladini R.D., Takahashi K., Gant T.M., Coulombe P.A.;
"cDNA cloning and bacterial expression of the human type I keratin
16.";
Biochem. Biophys. Res. Commun. 215:517-523(1995).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Smith F.J.D., Fisher M.P., Healy E., Rees J.L., McKusick V.A.,
Bonifas J.M., Epstein E.H. Jr., Tan E., Uitto J., McLean W.H.I.;
"Cloning of multiple keratin 16 genes: genotype-phenotype correlation
and protein expression studies in pachyonychia congenita type 1 and
focal palmoplantar keratoderma.";
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Mammary gland;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-134, AND VARIANT PC1 PRO-132.
PubMed=7539673; DOI=10.1038/ng0395-273;
McLean W.H.I., Rugg E.L., Lunny D.P., Morley S.M., Lane E.B.,
Swensson O., Dopping-Hepenstal P.J.C., Griffiths W.A.D., Eady R.A.J.,
Higgins C., Navsaria H.A., Leigh I.M., Strachan T., Kunkeler L.,
Munro C.S.;
"Keratin 16 and keratin 17 mutations cause pachyonychia congenita.";
Nat. Genet. 9:273-278(1995).
[9]
PROTEIN SEQUENCE OF 137-148; 178-195 AND 264-283.
TISSUE=Keratinocyte;
PubMed=1286667; DOI=10.1002/elps.11501301199;
Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E.,
Vandekerckhove J.;
"Microsequences of 145 proteins recorded in the two-dimensional gel
protein database of normal human epidermal keratinocytes.";
Electrophoresis 13:960-969(1992).
[10]
MASS SPECTROMETRY.
TISSUE=Mammary cancer;
PubMed=11840567;
DOI=10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H;
Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A.,
Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J.,
Zvelebil M.J.;
"Cluster analysis of an extensive human breast cancer cell line
protein expression map database.";
Proteomics 2:212-223(2002).
[11]
INTERACTION WITH TCHP.
PubMed=15731013; DOI=10.1242/jcs.01667;
Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T.,
Usukura J., Inagaki M.;
"Identification of trichoplein, a novel keratin filament-binding
protein.";
J. Cell Sci. 118:1081-1090(2005).
[12]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[13]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[14]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[15]
VARIANTS FNEPPK1 SER-125 AND CYS-127.
PubMed=8595410; DOI=10.1093/hmg/4.10.1875;
Shamsheer M.K., Navsaria H.A., Stevens H.P., Ratnavel R.C.,
Purkis P.E., McLean W.H.I., Cook L.J., Griffiths W.A.D.,
Geschmeissner S., Spurr N., Leigh I.M.;
"Novel mutations in keratin 16 gene underly focal nonepidermolytic
palmoplantar keratoderma (NEPPK) in two families.";
Hum. Mol. Genet. 4:1875-1881(1995).
[16]
VARIANTS PC1 PRO-122 AND PRO-127.
PubMed=10606845; DOI=10.1046/j.1365-2133.1999.03198.x;
Smith F.J.D., Del Monaco M., Steijlen P.M., Munro C.S., Morvay M.,
Coleman C.M., Rietveld F.J.R., Uitto J., McLean W.H.I.;
"Novel proline substitution mutations in keratin 16 in two cases of
pachyonychia congenita type 1.";
Br. J. Dermatol. 141:1010-1016(1999).
[17]
VARIANT PC1 SER-130 DEL.
PubMed=10521820;
DOI=10.1002/(SICI)1097-0223(199910)19:10<941::AID-PD663>3.0.CO;2-W;
Smith F.J., McKusick V.A., Nielsen K., Pfendner E., Uitto J.,
McLean W.H.I.;
"Cloning of multiple keratin 16 genes facilitates prenatal diagnosis
of pachyonychia congenita type 1.";
Prenat. Diagn. 19:941-946(1999).
[18]
VARIANT PC1 ARG-124.
PubMed=10839714; DOI=10.1034/j.1600-0625.2000.009003170.x;
Smith F.J., Fisher M.P., Healy E., Rees J.L., Bonifas J.M.,
Epstein E.H. Jr., Tan E.M., Uitto J., McLean W.H.I.;
"Novel keratin 16 mutations and protein expression studies in
pachyonychia congenita type 1 and focal palmoplantar keratoderma.";
Exp. Dermatol. 9:170-177(2000).
[19]
VARIANT 104-GLY--ALA-107 DEL.
PubMed=10844556; DOI=10.1046/j.1523-1747.2000.00983.x;
Terrinoni A., Puddu P., Didona B., De Laurenzi V., Candi E.,
Smith F.J., McLean W.H.I., Melino G.;
"A mutation in the V1 domain of K16 is responsible for unilateral
palmoplantar verrucous nevus.";
J. Invest. Dermatol. 114:1136-1140(2000).
[20]
VARIANT PC1 ASN-354.
PubMed=11359398; DOI=10.1046/j.1365-2133.2001.04199.x;
Connors J.B., Rahil A.K., Smith F.J.D., McLean W.H.I., Milstone L.M.;
"Delayed-onset pachyonychia congenita associated with a novel mutation
in the central 2B domain of keratin 16.";
Br. J. Dermatol. 144:1058-1062(2001).
[21]
VARIANTS PC1 THR-121 AND PC1 GLN-128.
PubMed=11886499; DOI=10.1046/j.0022-202x.2001.01565.x;
Terrinoni A., Smith F.J.D., Didona B., Canzona F., Paradisi M.,
Huber M., Hohl D., David A., Verloes A., Leigh I.M., Munro C.S.,
Melino G., McLean W.H.I.;
"Novel and recurrent mutations in the genes encoding keratins K6a, K16
and K17 in 13 cases of pachyonychia congenita.";
J. Invest. Dermatol. 117:1391-1396(2001).
[22]
VARIANTS PC1 PRO-124; HIS-124; ASP-125; SER-125; CYS-127 AND PRO-132.
PubMed=16250206; DOI=10.1111/j.1087-0024.2005.10204.x;
Smith F.J., Liao H., Cassidy A.J., Stewart A., Hamill K.J., Wood P.,
Joval I., van Steensel M.A., Bjoerck E., Callif-Daley F., Pals G.,
Collins P., Leachman S.A., Munro C.S., McLean W.H.;
"The genetic basis of pachyonychia congenita.";
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005).
[23]
VARIANTS PC1 SER-125; PRO-127 AND GLN-128.
PubMed=17719747; DOI=10.1016/j.jdermsci.2007.07.003;
Liao H., Sayers J.M., Wilson N.J., Irvine A.D., Mellerio J.E.,
Baselga E., Bayliss S.J., Uliana V., Fimiani M., Lane E.B.,
McLean W.H., Leachman S.A., Smith F.J.;
"A spectrum of mutations in keratins K6a, K16 and K17 causing
pachyonychia congenita.";
J. Dermatol. Sci. 48:199-205(2007).
[24]
VARIANTS PC1 SER-125; PRO-127 AND PRO-132.
PubMed=21326300; DOI=10.1038/jid.2011.20;
Wilson N.J., Leachman S.A., Hansen C.D., McMullan A.C., Milstone L.M.,
Schwartz M.E., McLean W.H., Hull P.R., Smith F.J.;
"A large mutational study in pachyonychia congenita.";
J. Invest. Dermatol. 131:1018-1024(2011).
[25]
VARIANTS PC1 SER-125; ASP-125; PRO-127 AND CYS-127.
PubMed=21160496; DOI=10.1038/jid.2010.373;
Fu T., Leachman S.A., Wilson N.J., Smith F.J., Schwartz M.E.,
Tang J.Y.;
"Genotype-phenotype correlations among pachyonychia congenita patients
with K16 mutations.";
J. Invest. Dermatol. 131:1025-1028(2011).
[26]
VARIANT PC1 GLY-125.
PubMed=22668561; DOI=10.1684/ejd.2012.1773;
Du Z.F., Xu C.M., Zhao Y., Liu W.T., Chen X.L., Chen C.Y., Fang H.,
Ke H.P., Zhang X.N.;
"Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese
pachyonychia congenita pedigrees with fissured tongue or diffuse
plantar keratoderma.";
Eur. J. Dermatol. 22:476-480(2012).
[27]
VARIANT PC1 PRO-421.
PubMed=24118415; DOI=10.1111/exd.12262;
Paris F., Hurtado C., Azon A., Aguado L., Vizmanos J.L.;
"A new KRT16 mutation associated with a phenotype of pachyonychia
congenita.";
Exp. Dermatol. 22:838-839(2013).
-!- FUNCTION: Epidermis-specific type I keratin that plays a key role
in skin. Acts as a regulator of innate immunity in response to
skin barrier breach: required for some inflammatory checkpoint for
the skin barrier maintenance. {ECO:0000250|UniProtKB:Q9Z2K1}.
-!- SUBUNIT: Heterodimer of a type I and a type II keratin. KRT16
associates with KRT6 isomers (KRT6A or KRT6B) (By similarity).
Interacts with TCHP (PubMed:15731013). Interacts with TRADD (By
similarity). {ECO:0000250|UniProtKB:Q9Z2K1,
ECO:0000269|PubMed:15731013}.
-!- INTERACTION:
P50151:GNG10; NbExp=4; IntAct=EBI-356410, EBI-10211741;
P78385:KRT83; NbExp=4; IntAct=EBI-356410, EBI-10221390;
-!- TISSUE SPECIFICITY: Expressed in the hair follicle, nail bed and
in mucosal stratified squamous epithelia and, suprabasally, in
oral epithelium and palmoplantar epidermis. Also found in luminal
cells of sweat and mammary gland ducts.
-!- MASS SPECTROMETRY: Mass=50924.66; Method=MALDI; Range=2-473;
Evidence={ECO:0000269|PubMed:11840567};
-!- DISEASE: Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal
dominant ectodermal dysplasia characterized by hypertrophic nail
dystrophy resulting in onchyogryposis (thickening and increase in
curvature of the nail), palmoplantar keratoderma, follicular
hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the
hands and feet is usually present. {ECO:0000269|PubMed:10521820,
ECO:0000269|PubMed:10606845, ECO:0000269|PubMed:10839714,
ECO:0000269|PubMed:11359398, ECO:0000269|PubMed:11886499,
ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:17719747,
ECO:0000269|PubMed:21160496, ECO:0000269|PubMed:21326300,
ECO:0000269|PubMed:22668561, ECO:0000269|PubMed:24118415,
ECO:0000269|PubMed:7539673}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Keratoderma, palmoplantar, non-epidermolytic, focal 1
(FNEPPK1) [MIM:613000]: A dermatological disorder characterized by
non-epidermolytic palmoplantar keratoderma limited to the pressure
points on the balls of the feet, with later mild involvement on
the palms. Oral, genital and follicular keratotic lesions are
often present. {ECO:0000269|PubMed:8595410}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Note=KRT16 and KRT17 are coexpressed only in pathological
situations such as metaplasias and carcinomas of the uterine
cervix and in psoriasis vulgaris.
-!- MISCELLANEOUS: There are two types of cytoskeletal and
microfibrillar keratin, I (acidic) and II (neutral to basic) (40-
55 and 56-70 kDa, respectively).
-!- SIMILARITY: Belongs to the intermediate filament family.
{ECO:0000255|PROSITE-ProRule:PRU01188}.
-!- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database;
URL="http://www.interfil.org";
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EMBL; M28439; AAA59460.1; -; Genomic_DNA.
EMBL; M28432; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28433; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28434; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28435; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28436; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28437; AAA59460.1; JOINED; Genomic_DNA.
EMBL; M28438; AAA59460.1; JOINED; Genomic_DNA.
EMBL; S79867; AAB35421.1; -; mRNA.
EMBL; AF061809; AAD15829.1; -; Genomic_DNA.
EMBL; AF061812; AAC99326.1; -; mRNA.
EMBL; AK290853; BAF83542.1; -; mRNA.
EMBL; CH471152; EAW60749.1; -; Genomic_DNA.
EMBL; BC039169; AAH39169.1; -; mRNA.
EMBL; S78514; AAB34564.1; -; Genomic_DNA.
CCDS; CCDS11401.1; -.
PIR; A33652; A33652.
PIR; JC4313; JC4313.
RefSeq; NP_005548.2; NM_005557.3.
UniGene; Hs.655160; -.
ProteinModelPortal; P08779; -.
SMR; P08779; -.
BioGrid; 110066; 38.
IntAct; P08779; 68.
MINT; MINT-1145021; -.
STRING; 9606.ENSP00000301653; -.
iPTMnet; P08779; -.
PhosphoSitePlus; P08779; -.
SwissPalm; P08779; -.
BioMuta; KRT16; -.
DMDM; 23503075; -.
PaxDb; P08779; -.
PeptideAtlas; P08779; -.
PRIDE; P08779; -.
DNASU; 3868; -.
Ensembl; ENST00000301653; ENSP00000301653; ENSG00000186832.
GeneID; 3868; -.
KEGG; hsa:3868; -.
UCSC; uc002hxg.5; human.
CTD; 3868; -.
DisGeNET; 3868; -.
EuPathDB; HostDB:ENSG00000186832.8; -.
GeneCards; KRT16; -.
GeneReviews; KRT16; -.
H-InvDB; HIX0059709; -.
H-InvDB; HIX0136649; -.
H-InvDB; HIX0173645; -.
HGNC; HGNC:6423; KRT16.
HPA; CAB000136; -.
HPA; HPA000539; -.
MalaCards; KRT16; -.
MIM; 148067; gene.
MIM; 167200; phenotype.
MIM; 613000; phenotype.
neXtProt; NX_P08779; -.
OpenTargets; ENSG00000186832; -.
Orphanet; 2199; Epidermolytic palmoplantar keratoderma.
Orphanet; 2309; Pachyonychia congenita.
PharmGKB; PA30210; -.
eggNOG; ENOG410IFTF; Eukaryota.
eggNOG; ENOG410Y9IV; LUCA.
GeneTree; ENSGT00900000140820; -.
HOGENOM; HOG000230975; -.
HOVERGEN; HBG013015; -.
InParanoid; P08779; -.
KO; K07604; -.
OMA; FEHELMM; -.
OrthoDB; EOG091G087I; -.
PhylomeDB; P08779; -.
TreeFam; TF332742; -.
Reactome; R-HSA-6805567; Keratinization.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
SIGNOR; P08779; -.
GeneWiki; Keratin_16; -.
GenomeRNAi; 3868; -.
PRO; PR:P08779; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000186832; -.
CleanEx; HS_KRT16; -.
ExpressionAtlas; P08779; baseline and differential.
Genevisible; P08779; HS.
GO; GO:0005856; C:cytoskeleton; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005882; C:intermediate filament; NAS:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005200; F:structural constituent of cytoskeleton; NAS:UniProtKB.
GO; GO:0007568; P:aging; IDA:UniProtKB.
GO; GO:0008283; P:cell proliferation; TAS:ProtInc.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0007010; P:cytoskeleton organization; NAS:UniProtKB.
GO; GO:0008544; P:epidermis development; TAS:ProtInc.
GO; GO:0061436; P:establishment of skin barrier; ISS:UniProtKB.
GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
GO; GO:0006954; P:inflammatory response; ISS:UniProtKB.
GO; GO:0045087; P:innate immune response; ISS:UniProtKB.
GO; GO:0045104; P:intermediate filament cytoskeleton organization; IEA:Ensembl.
GO; GO:0031424; P:keratinization; ISS:UniProtKB.
GO; GO:0030216; P:keratinocyte differentiation; ISS:UniProtKB.
GO; GO:0051546; P:keratinocyte migration; ISS:UniProtKB.
GO; GO:0002009; P:morphogenesis of an epithelium; ISS:UniProtKB.
GO; GO:0030336; P:negative regulation of cell migration; IDA:UniProtKB.
InterPro; IPR001664; IF.
InterPro; IPR018039; Intermediate_filament_CS.
InterPro; IPR002957; Keratin_I.
PANTHER; PTHR23239; PTHR23239; 1.
Pfam; PF00038; Filament; 1.
PRINTS; PR01248; TYPE1KERATIN.
SMART; SM01391; Filament; 1.
PROSITE; PS00226; IF_ROD_1; 1.
PROSITE; PS51842; IF_ROD_2; 1.
1: Evidence at protein level;
Coiled coil; Complete proteome; Direct protein sequencing;
Disease mutation; Ectodermal dysplasia; Intermediate filament;
Keratin; Palmoplantar keratoderma; Reference proteome.
CHAIN 1 473 Keratin, type I cytoskeletal 16.
/FTId=PRO_0000063662.
DOMAIN 117 428 IF rod. {ECO:0000255|PROSITE-
ProRule:PRU01188}.
REGION 1 116 Head.
REGION 117 152 Coil 1A.
REGION 153 170 Linker 1.
REGION 171 262 Coil 1B.
REGION 263 285 Linker 12.
REGION 286 424 Coil 2.
REGION 425 473 Tail.
VARIANT 104 107 Missing (rare variant; found as somatic
mutation in a patient with localized
epidermolytic hyperkeratosis in the right
palm and the right sole; unknown
pathological significance).
{ECO:0000269|PubMed:10844556}.
/FTId=VAR_012854.
VARIANT 121 121 M -> T (in PC1; dbSNP:rs28928894).
{ECO:0000269|PubMed:11886499}.
/FTId=VAR_017065.
VARIANT 122 122 Q -> P (in PC1; dbSNP:rs59349773).
{ECO:0000269|PubMed:10606845}.
/FTId=VAR_012855.
VARIANT 124 124 L -> H (in PC1; dbSNP:rs58293603).
{ECO:0000269|PubMed:16250206}.
/FTId=VAR_072436.
VARIANT 124 124 L -> P (in PC1; dbSNP:rs58293603).
{ECO:0000269|PubMed:16250206}.
/FTId=VAR_072437.
VARIANT 124 124 L -> R (in PC1; dbSNP:rs58293603).
{ECO:0000269|PubMed:10839714}.
/FTId=VAR_013837.
VARIANT 125 125 N -> D (in PC1; dbSNP:rs58608173).
{ECO:0000269|PubMed:16250206,
ECO:0000269|PubMed:21160496}.
/FTId=VAR_072438.
VARIANT 125 125 N -> G (in PC1; requires 2 nucleotide
substitutions; dbSNP:rs587777717).
{ECO:0000269|PubMed:22668561}.
/FTId=VAR_072439.
VARIANT 125 125 N -> S (in FNEPPK1 and PC1;
dbSNP:rs60723330).
{ECO:0000269|PubMed:16250206,
ECO:0000269|PubMed:17719747,
ECO:0000269|PubMed:21160496,
ECO:0000269|PubMed:21326300,
ECO:0000269|PubMed:8595410}.
/FTId=VAR_009183.
VARIANT 127 127 R -> C (in FNEPPK1 and PC1;
dbSNP:rs59856285).
{ECO:0000269|PubMed:16250206,
ECO:0000269|PubMed:21160496,
ECO:0000269|PubMed:8595410}.
/FTId=VAR_009184.
VARIANT 127 127 R -> P (in PC1; dbSNP:rs57424749).
{ECO:0000269|PubMed:10606845,
ECO:0000269|PubMed:17719747,
ECO:0000269|PubMed:21160496,
ECO:0000269|PubMed:21326300}.
/FTId=VAR_012856.
VARIANT 128 128 L -> Q (in PC1; dbSNP:rs28928895).
{ECO:0000269|PubMed:11886499,
ECO:0000269|PubMed:17719747}.
/FTId=VAR_017066.
VARIANT 130 130 Missing (in PC1).
{ECO:0000269|PubMed:10521820}.
/FTId=VAR_035440.
VARIANT 132 132 L -> P (in PC1; dbSNP:rs60944949).
{ECO:0000269|PubMed:16250206,
ECO:0000269|PubMed:21326300,
ECO:0000269|PubMed:7539673}.
/FTId=VAR_003846.
VARIANT 354 354 K -> N (in PC1; late onset;
dbSNP:rs59328451).
{ECO:0000269|PubMed:11359398}.
/FTId=VAR_017067.
VARIANT 421 421 L -> P (in PC1).
{ECO:0000269|PubMed:24118415}.
/FTId=VAR_072440.
CONFLICT 2 2 T -> A (in Ref. 3; AAB35421).
{ECO:0000305}.
CONFLICT 26 26 G -> A (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 38 38 G -> A (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 41 43 RAP -> PA (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 49 50 GL -> A (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 187 189 QPI -> HAL (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 208 211 HELA -> ARTG (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 352 352 S -> R (in Ref. 1; AAA59460).
{ECO:0000305}.
CONFLICT 452 460 SRQTRPILK -> AVRPGPSS (in Ref. 1;
AAA59460). {ECO:0000305}.
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


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