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P08779

- K1C16_HUMAN

UniProt

P08779 - K1C16_HUMAN

Protein

Keratin, type I cytoskeletal 16

Gene

KRT16

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: HGNC
    2. structural constituent of cytoskeleton Source: UniProtKB

    GO - Biological processi

    1. aging Source: UniProt
    2. cell proliferation Source: ProtInc
    3. cytoskeleton organization Source: UniProtKB
    4. epidermis development Source: ProtInc
    5. hair cycle Source: UniProt
    6. intermediate filament cytoskeleton organization Source: Ensembl
    7. negative regulation of cell migration Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cytoskeletal 16
    Alternative name(s):
    Cytokeratin-16
    Short name:
    CK-16
    Keratin-16
    Short name:
    K16
    Gene namesi
    Name:KRT16
    Synonyms:KRT16A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6423. KRT16.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoskeleton Source: UniProt
    2. extracellular vesicular exosome Source: UniProt
    3. intermediate filament Source: UniProtKB
    4. nucleus Source: UniProt

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211M → T in PC1. 1 Publication
    Corresponds to variant rs28928894 [ dbSNP | Ensembl ].
    VAR_017065
    Natural varianti122 – 1221Q → P in PC1. 1 Publication
    Corresponds to variant rs59349773 [ dbSNP | Ensembl ].
    VAR_012855
    Natural varianti124 – 1241L → R in PC1. 1 Publication
    Corresponds to variant rs58293603 [ dbSNP | Ensembl ].
    VAR_013837
    Natural varianti127 – 1271R → P in PC1. 1 Publication
    Corresponds to variant rs57424749 [ dbSNP | Ensembl ].
    VAR_012856
    Natural varianti128 – 1281L → Q in PC1. 1 Publication
    Corresponds to variant rs28928895 [ dbSNP | Ensembl ].
    VAR_017066
    Natural varianti130 – 1301Missing in PC1. 1 Publication
    VAR_035440
    Natural varianti132 – 1321L → P in PC1. 1 Publication
    Corresponds to variant rs60944949 [ dbSNP | Ensembl ].
    VAR_003846
    Natural varianti354 – 3541K → N in PC1; late onset. 1 Publication
    Corresponds to variant rs59328451 [ dbSNP | Ensembl ].
    VAR_017067
    Keratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti125 – 1251N → S in FNEPPK. 1 Publication
    Corresponds to variant rs60723330 [ dbSNP | Ensembl ].
    VAR_009183
    Natural varianti127 – 1271R → C in FNEPPK. 1 Publication
    Corresponds to variant rs59856285 [ dbSNP | Ensembl ].
    VAR_009184
    Unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1074Missing in UPVN; somatic mutation. 1 Publication
    VAR_012854
    KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.

    Keywords - Diseasei

    Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

    Organism-specific databases

    MIMi144200. phenotype.
    167200. phenotype.
    613000. phenotype.
    Orphaneti2199. Epidermolytic palmoplantar keratoderma.
    2309. Pachyonychia congenita.
    PharmGKBiPA30210.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 473473Keratin, type I cytoskeletal 16PRO_0000063662Add
    BLAST

    Proteomic databases

    MaxQBiP08779.
    PaxDbiP08779.
    PeptideAtlasiP08779.
    PRIDEiP08779.

    PTM databases

    PhosphoSiteiP08779.

    Expressioni

    Tissue specificityi

    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.

    Gene expression databases

    ArrayExpressiP08779.
    BgeeiP08779.
    CleanExiHS_KRT16.
    GenevestigatoriP08779.

    Organism-specific databases

    HPAiCAB000136.

    Interactioni

    Subunit structurei

    Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers. Interacts with TCHP. Interacts with TRADD By similarity.By similarity

    Protein-protein interaction databases

    BioGridi110066. 29 interactions.
    IntActiP08779. 10 interactions.
    MINTiMINT-1145021.
    STRINGi9606.ENSP00000301653.

    Structurei

    3D structure databases

    ProteinModelPortaliP08779.
    SMRiP08779. Positions 167-265, 281-423.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 116116HeadAdd
    BLAST
    Regioni117 – 424308RodAdd
    BLAST
    Regioni117 – 15236Coil 1AAdd
    BLAST
    Regioni153 – 17018Linker 1Add
    BLAST
    Regioni171 – 26292Coil 1BAdd
    BLAST
    Regioni263 – 28523Linker 12Add
    BLAST
    Regioni286 – 424139Coil 2Add
    BLAST
    Regioni425 – 47349TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG148784.
    HOGENOMiHOG000230975.
    HOVERGENiHBG013015.
    InParanoidiP08779.
    KOiK07604.
    OMAiHASGQSY.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP08779.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P08779-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL    50
    SVSSRFSSGG ACGLGGGYGG GFSSSSSFGS GFGGGYGGGL GAGFGGGLGA 100
    GFGGGFAGGD GLLVGSEKVT MQNLNDRLAS YLDKVRALEE ANADLEVKIR 150
    DWYQRQRPSE IKDYSPYFKT IEDLRNKIIA ATIENAQPIL QIDNARLAAD 200
    DFRTKYEHEL ALRQTVEADV NGLRRVLDEL TLARTDLEMQ IEGLKEELAY 250
    LRKNHEEEML ALRGQTGGDV NVEMDAAPGV DLSRILNEMR DQYEQMAEKN 300
    RRDAETWFLS KTEELNKEVA SNSELVQSSR SEVTELRRVL QGLEIELQSQ 350
    LSMKASLENS LEETKGRYCM QLSQIQGLIG SVEEQLAQLR CEMEQQSQEY 400
    QILLDVKTRL EQEIATYRRL LEGEDAHLSS QQASGQSYSS REVFTSSSSS 450
    SSRQTRPILK EQSSSSFSQG QSS 473
    Length:473
    Mass (Da):51,268
    Last modified:January 23, 2007 - v4
    Checksum:iBA8CE9F4716A88A4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21T → A in AAB35421. (PubMed:7487986)Curated
    Sequence conflicti26 – 261G → A in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti38 – 381G → A in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti41 – 433RAP → PA in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti49 – 502GL → A in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti187 – 1893QPI → HAL in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti208 – 2114HELA → ARTG in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti352 – 3521S → R in AAA59460. (PubMed:2431270)Curated
    Sequence conflicti452 – 4609SRQTRPILK → AVRPGPSS in AAA59460. (PubMed:2431270)Curated

    Mass spectrometryi

    Molecular mass is 50924.66 Da from positions 2 - 473. Determined by MALDI. 1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti104 – 1074Missing in UPVN; somatic mutation. 1 Publication
    VAR_012854
    Natural varianti121 – 1211M → T in PC1. 1 Publication
    Corresponds to variant rs28928894 [ dbSNP | Ensembl ].
    VAR_017065
    Natural varianti122 – 1221Q → P in PC1. 1 Publication
    Corresponds to variant rs59349773 [ dbSNP | Ensembl ].
    VAR_012855
    Natural varianti124 – 1241L → R in PC1. 1 Publication
    Corresponds to variant rs58293603 [ dbSNP | Ensembl ].
    VAR_013837
    Natural varianti125 – 1251N → S in FNEPPK. 1 Publication
    Corresponds to variant rs60723330 [ dbSNP | Ensembl ].
    VAR_009183
    Natural varianti127 – 1271R → C in FNEPPK. 1 Publication
    Corresponds to variant rs59856285 [ dbSNP | Ensembl ].
    VAR_009184
    Natural varianti127 – 1271R → P in PC1. 1 Publication
    Corresponds to variant rs57424749 [ dbSNP | Ensembl ].
    VAR_012856
    Natural varianti128 – 1281L → Q in PC1. 1 Publication
    Corresponds to variant rs28928895 [ dbSNP | Ensembl ].
    VAR_017066
    Natural varianti130 – 1301Missing in PC1. 1 Publication
    VAR_035440
    Natural varianti132 – 1321L → P in PC1. 1 Publication
    Corresponds to variant rs60944949 [ dbSNP | Ensembl ].
    VAR_003846
    Natural varianti354 – 3541K → N in PC1; late onset. 1 Publication
    Corresponds to variant rs59328451 [ dbSNP | Ensembl ].
    VAR_017067

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M28439
    , M28432, M28433, M28434, M28435, M28436, M28437, M28438 Genomic DNA. Translation: AAA59460.1.
    S79867 mRNA. Translation: AAB35421.1.
    AF061809 Genomic DNA. Translation: AAD15829.1.
    AF061812 mRNA. Translation: AAC99326.1.
    AK290853 mRNA. Translation: BAF83542.1.
    CH471152 Genomic DNA. Translation: EAW60749.1.
    BC039169 mRNA. Translation: AAH39169.1.
    S78514 Genomic DNA. Translation: AAB34564.1.
    CCDSiCCDS11401.1.
    PIRiA33652.
    JC4313.
    RefSeqiNP_005548.2. NM_005557.3.
    UniGeneiHs.655160.

    Genome annotation databases

    EnsembliENST00000301653; ENSP00000301653; ENSG00000186832.
    GeneIDi3868.
    KEGGihsa:3868.
    UCSCiuc002hxg.4. human.

    Polymorphism databases

    DMDMi23503075.

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M28439
    , M28432 , M28433 , M28434 , M28435 , M28436 , M28437 , M28438 Genomic DNA. Translation: AAA59460.1 .
    S79867 mRNA. Translation: AAB35421.1 .
    AF061809 Genomic DNA. Translation: AAD15829.1 .
    AF061812 mRNA. Translation: AAC99326.1 .
    AK290853 mRNA. Translation: BAF83542.1 .
    CH471152 Genomic DNA. Translation: EAW60749.1 .
    BC039169 mRNA. Translation: AAH39169.1 .
    S78514 Genomic DNA. Translation: AAB34564.1 .
    CCDSi CCDS11401.1.
    PIRi A33652.
    JC4313.
    RefSeqi NP_005548.2. NM_005557.3.
    UniGenei Hs.655160.

    3D structure databases

    ProteinModelPortali P08779.
    SMRi P08779. Positions 167-265, 281-423.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110066. 29 interactions.
    IntActi P08779. 10 interactions.
    MINTi MINT-1145021.
    STRINGi 9606.ENSP00000301653.

    PTM databases

    PhosphoSitei P08779.

    Polymorphism databases

    DMDMi 23503075.

    Proteomic databases

    MaxQBi P08779.
    PaxDbi P08779.
    PeptideAtlasi P08779.
    PRIDEi P08779.

    Protocols and materials databases

    DNASUi 3868.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301653 ; ENSP00000301653 ; ENSG00000186832 .
    GeneIDi 3868.
    KEGGi hsa:3868.
    UCSCi uc002hxg.4. human.

    Organism-specific databases

    CTDi 3868.
    GeneCardsi GC17M039766.
    GeneReviewsi KRT16.
    H-InvDB HIX0059709.
    HIX0136649.
    HIX0173645.
    HGNCi HGNC:6423. KRT16.
    HPAi CAB000136.
    MIMi 144200. phenotype.
    148067. gene.
    167200. phenotype.
    613000. phenotype.
    neXtProti NX_P08779.
    Orphaneti 2199. Epidermolytic palmoplantar keratoderma.
    2309. Pachyonychia congenita.
    PharmGKBi PA30210.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148784.
    HOGENOMi HOG000230975.
    HOVERGENi HBG013015.
    InParanoidi P08779.
    KOi K07604.
    OMAi HASGQSY.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P08779.
    TreeFami TF332742.

    Miscellaneous databases

    GeneWikii Keratin_16.
    GenomeRNAii 3868.
    NextBioi 15205.
    PROi P08779.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P08779.
    Bgeei P08779.
    CleanExi HS_KRT16.
    Genevestigatori P08779.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Raychaudhury A., Marchuk D., Lindhurst M., Fuchs E.
      Mol. Cell. Biol. 6:539-548(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "A group of type I keratin genes on human chromosome 17: characterization and expression."
      Rosenberg M., Raychaudhury A., Shows T.B., le Beau M.M., Fuchs E.
      Mol. Cell. Biol. 8:722-736(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. "cDNA cloning and bacterial expression of the human type I keratin 16."
      Paladini R.D., Takahashi K., Gant T.M., Coulombe P.A.
      Biochem. Biophys. Res. Commun. 215:517-523(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Keratinocyte.
    4. "Cloning of multiple keratin 16 genes: genotype-phenotype correlation and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma."
      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.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Mammary gland.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skin.
    8. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-134, VARIANT PC1 PRO-132.
    9. "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes."
      Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E., Vandekerckhove J.
      Electrophoresis 13:960-969(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 137-148; 178-195 AND 264-283.
      Tissue: Keratinocyte.
    10. "Cluster analysis of an extensive human breast cancer cell line protein expression map database."
      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.
      Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: MASS SPECTROMETRY.
      Tissue: Mammary cancer.
    11. "Identification of trichoplein, a novel keratin filament-binding protein."
      Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T., Usukura J., Inagaki M.
      J. Cell Sci. 118:1081-1090(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TCHP.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families."
      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.
      Hum. Mol. Genet. 4:1875-1881(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FNEPPK SER-125 AND CYS-127.
    14. "Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1."
      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.
      Br. J. Dermatol. 141:1010-1016(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PC1 PRO-122 AND PRO-127.
    15. "Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1."
      Smith F.J., McKusick V.A., Nielsen K., Pfendner E., Uitto J., McLean W.H.I.
      Prenat. Diagn. 19:941-946(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PC1 SER-130 DEL.
    16. "Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma."
      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.
      Exp. Dermatol. 9:170-177(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PC1 ARG-124.
    17. "A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus."
      Terrinoni A., Puddu P., Didona B., De Laurenzi V., Candi E., Smith F.J., McLean W.H.I., Melino G.
      J. Invest. Dermatol. 114:1136-1140(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT UPVN 104-GLY--ALA-107 DEL.
    18. "Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16."
      Connors J.B., Rahil A.K., Smith F.J.D., McLean W.H.I., Milstone L.M.
      Br. J. Dermatol. 144:1058-1062(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PC1 ASN-354.
    19. "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita."
      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.
      J. Invest. Dermatol. 117:1391-1396(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PC1 THR-121 AND PC1 GLN-128.

    Entry informationi

    Entry nameiK1C16_HUMAN
    AccessioniPrimary (citable) accession number: P08779
    Secondary accession number(s): A8K488
    , P30654, Q16402, Q9UBG8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1988
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 152 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Miscellaneous

    There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3