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P08779 (K1C16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin, type I cytoskeletal 16
Alternative name(s):
Cytokeratin-16
Short name=CK-16
Keratin-16
Short name=K16
Gene names
Name:KRT16
Synonyms:KRT16A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length473 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers. Interacts with TCHP. Interacts with TRADD By similarity. Ref.11

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.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.14 Ref.15 Ref.16 Ref.18 Ref.19

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. Ref.13

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. Ref.17

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).

Sequence similarities

Belongs to the intermediate filament family.

Mass spectrometry

Molecular mass is 50924.66 Da from positions 2 - 473. Determined by MALDI. Ref.10

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 473473Keratin, type I cytoskeletal 16
PRO_0000063662

Regions

Region1 – 116116Head
Region117 – 424308Rod
Region117 – 15236Coil 1A
Region153 – 17018Linker 1
Region171 – 26292Coil 1B
Region263 – 28523Linker 12
Region286 – 424139Coil 2
Region425 – 47349Tail

Natural variations

Natural variant104 – 1074Missing in UPVN; somatic mutation.
VAR_012854
Natural variant1211M → T in PC1. Ref.19
Corresponds to variant rs28928894 [ dbSNP | Ensembl ].
VAR_017065
Natural variant1221Q → P in PC1. Ref.14
Corresponds to variant rs59349773 [ dbSNP | Ensembl ].
VAR_012855
Natural variant1241L → R in PC1. Ref.16
Corresponds to variant rs58293603 [ dbSNP | Ensembl ].
VAR_013837
Natural variant1251N → S in FNEPPK. Ref.13
Corresponds to variant rs60723330 [ dbSNP | Ensembl ].
VAR_009183
Natural variant1271R → C in FNEPPK. Ref.13
Corresponds to variant rs59856285 [ dbSNP | Ensembl ].
VAR_009184
Natural variant1271R → P in PC1. Ref.14
Corresponds to variant rs57424749 [ dbSNP | Ensembl ].
VAR_012856
Natural variant1281L → Q in PC1. Ref.19
Corresponds to variant rs28928895 [ dbSNP | Ensembl ].
VAR_017066
Natural variant1301Missing in PC1. Ref.15
VAR_035440
Natural variant1321L → P in PC1. Ref.8
Corresponds to variant rs60944949 [ dbSNP | Ensembl ].
VAR_003846
Natural variant3541K → N in PC1; late onset. Ref.18
Corresponds to variant rs59328451 [ dbSNP | Ensembl ].
VAR_017067

Experimental info

Sequence conflict21T → A in AAB35421. Ref.3
Sequence conflict261G → A in AAA59460. Ref.1
Sequence conflict381G → A in AAA59460. Ref.1
Sequence conflict41 – 433RAP → PA in AAA59460. Ref.1
Sequence conflict49 – 502GL → A in AAA59460. Ref.1
Sequence conflict187 – 1893QPI → HAL in AAA59460. Ref.1
Sequence conflict208 – 2114HELA → ARTG in AAA59460. Ref.1
Sequence conflict3521S → R in AAA59460. Ref.1
Sequence conflict452 – 4609SRQTRPILK → AVRPGPSS in AAA59460. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P08779 [UniParc].

Last modified January 23, 2007. Version 4.
Checksum: BA8CE9F4716A88A4

FASTA47351,268
        10         20         30         40         50         60 
MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL SVSSRFSSGG 

        70         80         90        100        110        120 
ACGLGGGYGG GFSSSSSFGS GFGGGYGGGL GAGFGGGLGA GFGGGFAGGD GLLVGSEKVT 

       130        140        150        160        170        180 
MQNLNDRLAS YLDKVRALEE ANADLEVKIR DWYQRQRPSE IKDYSPYFKT IEDLRNKIIA 

       190        200        210        220        230        240 
ATIENAQPIL QIDNARLAAD DFRTKYEHEL ALRQTVEADV NGLRRVLDEL TLARTDLEMQ 

       250        260        270        280        290        300 
IEGLKEELAY LRKNHEEEML ALRGQTGGDV NVEMDAAPGV DLSRILNEMR DQYEQMAEKN 

       310        320        330        340        350        360 
RRDAETWFLS KTEELNKEVA SNSELVQSSR SEVTELRRVL QGLEIELQSQ LSMKASLENS 

       370        380        390        400        410        420 
LEETKGRYCM QLSQIQGLIG SVEEQLAQLR CEMEQQSQEY QILLDVKTRL EQEIATYRRL 

       430        440        450        460        470 
LEGEDAHLSS QQASGQSYSS REVFTSSSSS SSRQTRPILK EQSSSSFSQG QSS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]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. expand/collapse author list , 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
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]"Keratin 16 and keratin 17 mutations cause pachyonychia congenita."
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.
Nat. Genet. 9:273-278(1995) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M28439 expand/collapse EMBL AC list , 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.
CCDSCCDS11401.1.
PIRA33652.
JC4313.
RefSeqNP_005548.2. NM_005557.3.
UniGeneHs.655160.

3D structure databases

ProteinModelPortalP08779.
SMRP08779. Positions 167-265, 281-423.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110066. 29 interactions.
IntActP08779. 10 interactions.
MINTMINT-1145021.
STRING9606.ENSP00000301653.

PTM databases

PhosphoSiteP08779.

Polymorphism databases

DMDM23503075.

Proteomic databases

MaxQBP08779.
PaxDbP08779.
PeptideAtlasP08779.
PRIDEP08779.

Protocols and materials databases

DNASU3868.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301653; ENSP00000301653; ENSG00000186832.
GeneID3868.
KEGGhsa:3868.
UCSCuc002hxg.4. human.

Organism-specific databases

CTD3868.
GeneCardsGC17M039766.
GeneReviewsKRT16.
H-InvDBHIX0059709.
HIX0136649.
HIX0173645.
HGNCHGNC:6423. KRT16.
HPACAB000136.
MIM144200. phenotype.
148067. gene.
167200. phenotype.
613000. phenotype.
neXtProtNX_P08779.
Orphanet2199. Epidermolytic palmoplantar keratoderma.
2309. Pachyonychia congenita.
PharmGKBPA30210.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG148784.
HOGENOMHOG000230975.
HOVERGENHBG013015.
InParanoidP08779.
KOK07604.
OMAHASGQSY.
OrthoDBEOG7FV3Q8.
PhylomeDBP08779.
TreeFamTF332742.

Gene expression databases

ArrayExpressP08779.
BgeeP08779.
CleanExHS_KRT16.
GenevestigatorP08779.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01248. TYPE1KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKeratin_16.
GenomeRNAi3868.
NextBio15205.
PROP08779.
SOURCESearch...

Entry information

Entry nameK1C16_HUMAN
AccessionPrimary (citable) accession number: P08779
Secondary accession number(s): A8K488 expand/collapse secondary AC list , P30654, Q16402, Q9UBG8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM