Reviewed, UniProtKB/Swiss-Prot P02533 (K1C14_HUMAN)

Names and origin

Protein names

Recommended name:
    Keratin, type I cytoskeletal 14
Alternative name(s):
    Cytokeratin-14
      Short name=CK-14
    Keratin-14
      Short name=K14

Gene names

Name:

KRT14

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	472 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Ref.13
Subunit structure	Heterotetramer of two type I and two type II keratins. keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Ref.13 Ref.12
Subcellular location	Cytoplasm. Nucleus. Note: Expressed in both as a filamentous pattern. Ref.13
Tissue specificity	Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. Ref.11
Involvement in disease	Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Ref.7 Ref.8 Ref.18 Ref.21 Ref.23 Ref.25 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.34 Ref.35 Ref.36 Ref.38 Ref.39 Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]. WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]. K-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, althought it is less severe. Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]. AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. Ref.19 Defects in KRT14 are the cause of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]; also known as Naegeli syndrome. NFJS is a rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. Ref.37 Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare ectodermal dysplasia characterized by lifelong persistant reticulate hyperpigmentation, noncicatricial alopecia, and nail dystrophy. Ref.37
Miscellaneous	There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
Sequence similarities	Belongs to the intermediate filament family.

Ontologies

Keywords
Cellular component	Cytoplasm Intermediate filament Keratin Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Ectodermal dysplasia Epidermolysis bullosa Palmoplantar keratoderma
Domain	Coiled coil
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	epidermis development Traceable author statement. Source: ProtInc intermediate filament bundle assembly Ref.13 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	cytoplasm Ref.13 Inferred from direct assay. Source: UniProtKB keratin filament Inferred from direct assay. Source: MGI nucleus Ref.13 Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Ref.12 Inferred from physical interaction. Source: UniProtKB structural constituent of cytoskeleton Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MDM2	Q00987	1	EBI-702178,EBI-389668

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 472	471	Keratin, type I cytoskeletal 14		PRO_0000063653
Regions
	Region	2 – 114	113	Head
	Region	115 – 422	308	Rod
	Region	115 – 150	36	Coil 1A
	Region	151 – 168	18	Linker 1
	Region	169 – 260	92	Coil 1B
	Region	261 – 283	23	Linker 12
	Region	284 – 422	139	Coil 2
	Region	423 – 472	50	Tail
	Region	425 – 472	48	Interaction with Type I keratins and keratin filaments
Sites
	Site	364	1	Stutter
Natural variations
	Natural variant	63	1	C → Y: dbSNP rs6503640.		VAR_055347
	Natural variant	94	1	A → T: dbSNP rs3826550. Ref.27 Ref.3 Ref.5		VAR_010437
	Natural variant	116	1	K → N in WC-EBS. Ref.27		VAR_010438
	Natural variant	119	1	M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity.		VAR_010439
	Natural variant	119	1	M → T in DM-EBS. Ref.23 Ref.31		VAR_010440
	Natural variant	119	1	M → V in K-EBS and WC-EBS.		VAR_023719
	Natural variant	120	1	Q → R in DM-EBS. Ref.21		VAR_010441
	Natural variant	122	1	L → F in DM-EBS and K-EBS.		VAR_010442
	Natural variant	123	1	N → K in DM-EBS. Ref.27 Ref.36 Ref.39		VAR_023720
	Natural variant	123	1	N → S in DM-EBS. Ref.27 Ref.36 Ref.39		VAR_010443
	Natural variant	125	1	R → C in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39		VAR_003837
	Natural variant	125	1	R → G in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39		VAR_023721
	Natural variant	125	1	R → H in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39		VAR_003838
	Natural variant	125	1	R → S in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39		VAR_010444
	Natural variant	128	1	Missing in DM-EBS. Ref.35		VAR_031634
	Natural variant	129	1	Y → D in DM-EBS. Ref.7		VAR_010445
	Natural variant	130	1	L → P in DM-EBS. Ref.34		VAR_023722
	Natural variant	133	1	V → A: dbSNP rs642601. Ref.36 Ref.39		VAR_033496
	Natural variant	133	1	V → L in WC-EBS and K-EBS.		VAR_023723
	Natural variant	134	1	R → P in K-EBS. Ref.30		VAR_031635
	Natural variant	143	1	L → P in K-EBS. Ref.27		VAR_010446
	Natural variant	144	1	E → A in AREBS. Ref.19		VAR_003839
	Natural variant	148	1	R → C in WC-EBS. Ref.35		VAR_031636
	Natural variant	211	1	R → P in WC-EBS. Ref.39		VAR_027718
	Natural variant	215	1	E → K: dbSNP rs11551755.		VAR_049784
	Natural variant	247	1	A → D in K-EBS. Ref.29		VAR_010447
	Natural variant	270	1	V → M in WC-EBS. Ref.20		VAR_003840
	Natural variant	272	1	M → R in K-EBS. Ref.39 Ref.17		VAR_003841
	Natural variant	272	1	M → T in K-EBS. Ref.39 Ref.17		VAR_027719
	Natural variant	273	1	D → G in WC-EBS. Ref.24		VAR_010448
	Natural variant	274	1	A → D in WC-EBS. Ref.21		VAR_010449
	Natural variant	375	1	Missing in WC-EBS. Ref.16		VAR_003842
	Natural variant	377	1	I → N in WC-EBS. Ref.21		VAR_010450
	Natural variant	384	1	L → P in K-EBS. Ref.39 Ref.15		VAR_003843
	Natural variant	388	1	R → C in WC-EBS. Ref.21 Ref.32		VAR_010451
	Natural variant	388	1	R → H in WC-EBS. Ref.21 Ref.32		VAR_031637
	Natural variant	408	1	L → M in WC-EBS. Ref.34		VAR_023724
	Natural variant	411	1	Missing in WC-EBS. Ref.39		VAR_027720
	Natural variant	413	1	A → T in K-EBS. Ref.9		VAR_023725
	Natural variant	415	1	Y → C in WC-EBS. Ref.32		VAR_031638
	Natural variant	415	1	Y → H in K-EBS. Ref.25 Ref.29		VAR_003844
	Natural variant	416	1	R → P in DM-EBS. Ref.35		VAR_031639
	Natural variant	417	1	R → P in DM-EBS. Ref.39		VAR_027721
	Natural variant	419	1	L → Q in DM-EBS. Ref.25 Ref.29 Ref.34		VAR_003845
	Natural variant	422	1	E → K in WC-EBS. Ref.29		VAR_010452
Experimental info
	Sequence conflict	26	1	G → A Ref.1
	Sequence conflict	26	1	G → A in AAB59562. Ref.2
	Sequence conflict	44	1	S → N Ref.1
	Sequence conflict	44	1	S → N in AAB59562. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P02533-1 [UniParc]. Last modified May 5, 2009. Version 4. Checksum: 120BA30BA2F8E397	FASTA	472	51,561
	10 20 30 40 50 60 MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL SVSSSRFSSG 70 80 90 100 110 120 GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF GGGFAGGDGL LVGSEKVTMQ 130 140 150 160 170 180 NLNDRLASYL DKVRALEEAN ADLEVKIRDW YQRQRPAEIK DYSPYFKTIE DLRNKILTAT 190 200 210 220 230 240 VDNANVLLQI DNARLAADDF RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE 250 260 270 280 290 300 SLKEELAYLK KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK 310 320 330 340 350 360 DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS MKASLENSLE 370 380 390 400 410 420 ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI LLDVKTRLEQ EIATYRRLLE 430 440 450 460 470 GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT KVMDVHDGKV VSTHEQVLRT KN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Remarkable conservation of structure among intermediate filament genes." Marchuk D., McCrohon S., Fuchs E. Cell 39:491-498(1984) [PubMed: 6210150] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene." Marchuk D., McCrohon S., Fuchs E. Proc. Natl. Acad. Sci. U.S.A. 82:1609-1613(1985) [PubMed: 2580298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TYR-63.
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS TYR-63 AND THR-94.
[4]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS TYR-63 AND THR-94. Tissue: Brain, Pancreas and Skin.
[6]	"The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins." Hanukoglu I., Fuchs E. Cell 31:243-252(1982) [PubMed: 6186381] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-472. Tissue: Epidermis.
[7]	"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex." Chan Y.-M., Cheng J., Gedde-Dahl T. Jr., Niemi K.M., Fuchs E. J. Invest. Dermatol. 106:327-334(1996) [PubMed: 8601736] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132, VARIANT DM-EBS ASP-129.
[8]	"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses." Coulombe P.A., Hutton M.E., Letai A., Hebert A., Paller A.S., Fuchs E. Cell 66:1301-1311(1991) [PubMed: 1717157] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125.
[9]	"A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex." Yamanishi K., Matsuki M., Konishi K., Yasuno H. Hum. Mol. Genet. 3:1171-1172(1994) [PubMed: 7526926] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANT K-EBS PHE-122.
[10]	"A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family." Fujiwara H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424, VARIANT K-EBS THR-413.
[11]	"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle." Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B. J. Invest. Dermatol. 110:158-164(1998) [PubMed: 9457912] [Abstract] Cited for: TISSUE SPECIFICITY.
[12]	"Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD." Inada H., Izawa I., Nishizawa M., Fujita E., Kiyono T., Takahashi T., Momoi T., Inagaki M. J. Cell Biol. 155:415-426(2001) [PubMed: 11684708] [Abstract] Cited for: INTERACTION WITH TRADD.
[13]	"The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro." Bousquet O., Ma L., Yamada S., Gu C., Idei T., Takahashi K., Wirtz D., Coulombe P.A. J. Cell Biol. 155:747-754(2001) [PubMed: 11724817] [Abstract] Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION.
[14]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[15]	"Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities." Bonifas J.M., Rothman A.L., Epstein E.H. Jr. Science 254:1202-1205(1991) [PubMed: 1720261] [Abstract] Cited for: VARIANT K-EBS PRO-384.
[16]	"A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375." Chen M.A., Bonifas J.M., Matsumura K., Blumenfeld A., Epstein E.H. Jr. Hum. Mol. Genet. 2:1971-1972(1993) [PubMed: 7506606] [Abstract] Cited for: VARIANT WC-EBS GLU-375 DEL.
[17]	"A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex." Humphries M.M., Sheils D.M., Farrar G.J., Kumar-Singh R., Kenna P.F., Mansergh F.C., Jordan S.A., Young M.M., Humphries P. Hum. Mutat. 2:37-42(1993) [PubMed: 7682883] [Abstract] Cited for: VARIANT K-EBS ARG-272.
[18]	"A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis." Stephens K., Sybert V.P., Wijsman E.M., Ehrlich P., Spencer A. J. Invest. Dermatol. 101:240-243(1993) [PubMed: 7688405] [Abstract] Cited for: VARIANT DM-EBS HIS-125.
[19]	"A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex." Hovnanian A., Pollack E., Hilal L., Rochat A., Prost C., Barrandon Y., Goossens M. Nat. Genet. 3:327-331(1993) [PubMed: 7526933] [Abstract] Cited for: VARIANT AREBS ALA-144.
[20]	"Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function." Rugg E.L., Morley S.M., Smith F.J.D., Boxer M., Tidman M.J., Navsaria H.A., Leigh I.M., Lane E.B. Nat. Genet. 5:294-300(1993) [PubMed: 7506097] [Abstract] Cited for: VARIANT WC-EBS MET-270.
[21]	"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex." Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr. J. Invest. Dermatol. 105:629-632(1995) [PubMed: 7561171] [Abstract] Cited for: VARIANTS WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388, VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125.
[22]	"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote." Hu Z.L., Smith L., Martins S., Bonifas J.M., Chen H., Epstein E.H. Jr. J. Invest. Dermatol. 109:360-364(1997) [PubMed: 9284105] [Abstract] Cited for: VARIANT WC-EBS ILE-119.
[23]	"Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)." Shemanko C.S., Mellerio J.E., Tidman M.J., Lane E.B., Eady R.A.J. J. Invest. Dermatol. 111:893-895(1998) [PubMed: 9804355] [Abstract] Cited for: VARIANT DM-EBS THR-119.
[24]	"Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex." Mueller F.B., Kuester W., Bruckner-Tuderman L., Korge B.P. J. Invest. Dermatol. 111:900-902(1998) [PubMed: 9804357] [Abstract] Cited for: VARIANT WC-EBS GLY-273.
[25]	"A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex." Sasaki Y., Shimizu H., Akiyama M., Hiraoka Y., Takizawa Y., Yamada S., Morishima Y., Yamanishi K., Aiso S., Nishikawa T. Br. J. Dermatol. 141:747-748(1999) [PubMed: 10583131] [Abstract] Cited for: VARIANT DM-EBS CYS-125.
[26]	"Genomic keratin 14 mutation detection in epidermolysis bullosa simplex." Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H. Eur. J. Hum. Genet. Suppl. 7:121-121(1999) Cited for: VARIANT K-EBS HIS-415, VARIANT DM-EBS GLN-419.
[27]	"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype." Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N. J. Invest. Dermatol. 112:184-190(1999) [PubMed: 9989794] [Abstract] Cited for: VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, SEQUENCE REVISION TO 25 AND 43.
[28]	"Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential." Shemanko C.S., Horn H.M., Keohane S.G., Hepburn N., Kerr A.I.G., Atherton D.J., Tidman M.J., Lane E.B. Br. J. Dermatol. 142:315-320(2000) [PubMed: 10730767] [Abstract] Cited for: VARIANT DM-EBS HIS-125.
[29]	"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis." Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H. J. Invest. Dermatol. 114:616-619(2000) [PubMed: 10733662] [Abstract] Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, VARIANT WC-EBS LYS-422.
[30]	"DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex." Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B. Prenat. Diagn. 20:371-377(2000) [PubMed: 10820403] [Abstract] Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134.
[31]	"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes." Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F. J. Invest. Dermatol. 117:1103-1107(2001) [PubMed: 11710919] [Abstract] Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119.
[32]	"Epidermolysis bullosa simplex in Israel: clinical and genetic features." Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E. Arch. Dermatol. 139:498-505(2003) [PubMed: 12707098] [Abstract] Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125.
[33]	Erratum Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E. Arch. Dermatol. 139:1084-1084(2003)
[34]	"Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations." Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H. Hum. Mutat. 21:447-447(2003) [PubMed: 12655565] [Abstract] Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408.
[35]	"Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients." Wood P., Baty D.U., Lane E.B., McLean W.H.I. J. Invest. Dermatol. 120:495-497(2003) [PubMed: 12603865] [Abstract] Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148.
[36]	"Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex." Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S. Exp. Dermatol. 13:185-191(2004) [PubMed: 14987259] [Abstract] Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133.
[37]	"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14." Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E. Am. J. Hum. Genet. 79:724-730(2006) [PubMed: 16960809] [Abstract] Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR.
[38]	"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases." Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H. Br. J. Dermatol. 155:313-317(2006) [PubMed: 16882168] [Abstract] Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125.
[39]	"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly." Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J. Hum. Mutat. 27:719-720(2006) [PubMed: 16786515] [Abstract] Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.
+	Additional computationally mapped references.

Web resources

Human Intermediate Filament Mutation Database

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	J00124 Genomic DNA. Translation: AAB59562.1. BT007186 mRNA. Translation: AAP35850.1. AC019349 Genomic DNA. No translation available. BC002690 mRNA. Translation: AAH02690.1. BC019097 mRNA. Translation: AAH19097.1. BC042437 mRNA. Translation: AAH42437.1. BC094830 mRNA. Translation: AAH94830.1. D28807 Genomic DNA. Translation: BAA05967.1. AF186085 Genomic DNA. Translation: AAF04034.1. AF186086 Genomic DNA. Translation: AAF04035.1. AF186087 Genomic DNA. Translation: AAF04036.1. AF186088 Genomic DNA. Translation: AAF04037.1. AF186089 Genomic DNA. Translation: AAF04038.1. AF186090 Genomic DNA. Translation: AAF04039.1.
IPI	IPI00384444.
PIR	KRHUE. A26763.
RefSeq	NP_000517.2.
UniGene	Hs.654380
3D structure databases
HSSP	HSSP built from PDB template 1GK7 based on UniProtKB P08670.
ModBase	Search...
Protein-protein interaction databases
IntAct	P02533. 7 interactions.
PTM databases
PhosphoSite	P02533.
2-D gel databases
Aarhus/Ghent-2DPAGE	7305. IEF.
Proteomic databases
PRIDE	P02533.
Genome annotation databases
Ensembl	ENSG00000186847. Homo sapiens. [Contig view]
GeneID	3861.
KEGG	hsa:3861.
UCSC	uc002hxf.1. human.
Organism-specific databases
GeneCards	GC17M036993.
H-InvDB	HIX0013809.
HGNC	HGNC:6416. KRT14.
HPA	CAB000134. HPA000452.
MIM	125595. phenotype. 131760. phenotype. 131800. phenotype. 131900. phenotype. 148066. gene. 161000. phenotype. 601001. phenotype.
Orphanet	86920. Dermatopathia pigmentosa reticularis. 89838. Epidermolysis bullosa simplex, autosomal recessive. 79396. Epidermolysis bullosa simplex, Dowling-Meara type. 79399. Epidermolysis bullosa simplex, Koebner type. 79400. Epidermolysis bullosa simplex, Weber-Cockayne type. 304. Epidermolysis bullosa, epidermolytic. 69087. Naegeli-Franceschetti-Jadassohn syndrome.
PharmGKB	PA30203.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P02533.
Gene expression databases
ArrayExpress	P02533.
Bgee	P02533.
CleanEx	HS_KRT14.
GermOnline	ENSG00000186847. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR002957. Keratin_I. [Graphical view]
PANTHER	PTHR23239. IF. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01248. TYPE1KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	15195.
SOURCE	Search...

Entry information

Entry name

K1C14_HUMAN

Accession

Primary (citable) accession number: P02533
Secondary accession number(s): Q14715 , Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	May 5, 2009
Last modified:	July 7, 2009
This is version 110 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)