P08779 (K1C16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	473 AA.
Sequence status	Complete.
Protein existence	Evidence 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

Ontologies

Keywords
Cellular component	Intermediate filament Keratin
Disease	Disease mutation Ectodermal dysplasia Palmoplantar keratoderma
Domain	Coiled coil
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Traceable author statement Ref.13. Source: ProtInc cytoskeleton organization Non-traceable author statement Ref.2. Source: UniProtKB epidermis development Traceable author statement Ref.8. Source: ProtInc intermediate filament cytoskeleton organization Inferred from electronic annotation. Source: Compara
Cellular_component	intermediate filament Non-traceable author statement Ref.2. Source: UniProtKB
Molecular_function	structural constituent of cytoskeleton Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 473	473	Keratin, type I cytoskeletal 16		PRO_0000063662
Regions
	Region	1 – 116	116	Head
	Region	117 – 424	308	Rod
	Region	117 – 152	36	Coil 1A
	Region	153 – 170	18	Linker 1
	Region	171 – 262	92	Coil 1B
	Region	263 – 285	23	Linker 12
	Region	286 – 424	139	Coil 2
	Region	425 – 473	49	Tail
Natural variations
	Natural variant	104 – 107	4	Missing in UPVN; somatic mutation.		VAR_012854
	Natural variant	121	1	M → T in PC1. Ref.19 Corresponds to variant rs28928894 [ dbSNP | Ensembl ].		VAR_017065
	Natural variant	122	1	Q → P in PC1. Ref.14 Corresponds to variant rs59349773 [ dbSNP | Ensembl ].		VAR_012855
	Natural variant	124	1	L → R in PC1. Ref.16 Corresponds to variant rs58293603 [ dbSNP | Ensembl ].		VAR_013837
	Natural variant	125	1	N → S in FNEPPK. Ref.13 Corresponds to variant rs60723330 [ dbSNP | Ensembl ].		VAR_009183
	Natural variant	127	1	R → C in FNEPPK. Ref.13 Corresponds to variant rs59856285 [ dbSNP | Ensembl ].		VAR_009184
	Natural variant	127	1	R → P in PC1. Ref.14 Corresponds to variant rs57424749 [ dbSNP | Ensembl ].		VAR_012856
	Natural variant	128	1	L → Q in PC1. Ref.19 Corresponds to variant rs28928895 [ dbSNP | Ensembl ].		VAR_017066
	Natural variant	130	1	Missing in PC1. Ref.15		VAR_035440
	Natural variant	132	1	L → P in PC1. Ref.8 Corresponds to variant rs60944949 [ dbSNP | Ensembl ].		VAR_003846
	Natural variant	354	1	K → N in PC1; late onset. Ref.18 Corresponds to variant rs59328451 [ dbSNP | Ensembl ].		VAR_017067
Experimental info
	Sequence conflict	2	1	T → A in AAB35421. Ref.3
	Sequence conflict	26	1	G → A in AAA59460. Ref.1
	Sequence conflict	38	1	G → A in AAA59460. Ref.1
	Sequence conflict	41 – 43	3	RAP → PA in AAA59460. Ref.1
	Sequence conflict	49 – 50	2	GL → A in AAA59460. Ref.1
	Sequence conflict	187 – 189	3	QPI → HAL in AAA59460. Ref.1
	Sequence conflict	208 – 211	4	HELA → ARTG in AAA59460. Ref.1
	Sequence conflict	352	1	S → R in AAA59460. Ref.1
	Sequence conflict	452 – 460	9	SRQTRPILK → AVRPGPSS in AAA59460. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P08779 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: BA8CE9F4716A88A4	FASTA	473	51,268
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

Human Intermediate Filament Mutation Database

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00217963.
PIR	A33652. JC4313.
RefSeq	NP_005548.2. NM_005557.3.
UniGene	Hs.655160.
3D structure databases
ProteinModelPortal	P08779.
ModBase	Search...
Protein-protein interaction databases
IntAct	P08779. 9 interactions.
MINT	MINT-1145021.
STRING	9606.ENSP00000301653.
PTM databases
PhosphoSite	P08779.
Polymorphism databases
DMDM	23503075.
Proteomic databases
PaxDb	P08779.
PeptideAtlas	P08779.
PRIDE	P08779.
Protocols and materials databases
DNASU	3868.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000301653; ENSP00000301653; ENSG00000186832.
GeneID	3868.
KEGG	hsa:3868.
UCSC	uc002hxg.4. human.
Organism-specific databases
CTD	3868.
GeneCards	GC17M039766.
H-InvDB	HIX0059709. HIX0136649. HIX0173645.
HGNC	HGNC:6423. KRT16.
HPA	CAB000136.
MIM	144200. phenotype. 148067. gene. 167200. phenotype. 613000. phenotype.
neXtProt	NX_P08779.
Orphanet	2309. Pachyonychia congenita. 496. Thost-Unna palmoplantar keratoderma.
PharmGKB	PA30210.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG148784.
HOGENOM	HOG000230975.
HOVERGEN	HBG013015.
InParanoid	P08779.
KO	K07604.
OMA	NSELIQS.
OrthoDB	EOG483D4W.
PhylomeDB	P08779.
Gene expression databases
Bgee	P08779.
CleanEx	HS_KRT16.
Genevestigator	P08779.
GermOnline	ENSG00000186832. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR002957. Keratin_I. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01248. TYPE1KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3868.
NextBio	15205.
SOURCE	Search...

Entry information

Entry name

K1C16_HUMAN

Accession

Primary (citable) accession number: P08779
Secondary accession number(s): A8K488 , P30654, Q16402, Q9UBG8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1988
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 140 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.