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P08779

- K1C16_HUMAN

UniProt

P08779 - K1C16_HUMAN

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Protein
Keratin, type I cytoskeletal 16
Gene
KRT16, KRT16A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1074Missing in UPVN; somatic mutation.
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 16
PRO_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.1 Publication

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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 116116Head
Add
BLAST
Regioni117 – 424308Rod
Add
BLAST
Regioni117 – 15236Coil 1A
Add
BLAST
Regioni153 – 17018Linker 1
Add
BLAST
Regioni171 – 26292Coil 1B
Add
BLAST
Regioni263 – 28523Linker 12
Add
BLAST
Regioni286 – 424139Coil 2
Add
BLAST
Regioni425 – 47349Tail
Add
BLAST

Sequence similaritiesi

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

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.
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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21T → A in AAB35421. 1 Publication
Sequence conflicti26 – 261G → A in AAA59460. 1 Publication
Sequence conflicti38 – 381G → A in AAA59460. 1 Publication
Sequence conflicti41 – 433RAP → PA in AAA59460. 1 Publication
Sequence conflicti49 – 502GL → A in AAA59460. 1 Publication
Sequence conflicti187 – 1893QPI → HAL in AAA59460. 1 Publication
Sequence conflicti208 – 2114HELA → ARTG in AAA59460. 1 Publication
Sequence conflicti352 – 3521S → R in AAA59460. 1 Publication
Sequence conflicti452 – 4609SRQTRPILK → AVRPGPSS in AAA59460. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 151 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

Similar proteinsi