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UniProtKB - P02533 (K1C14_HUMAN)

>sp|P02533|K1C14_HUMAN Keratin, type I cytoskeletal 14 OS=Homo sapiens OX=9606 GN=KRT14 PE=1 SV=4
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG
GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ
NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT
VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK
DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE
ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE
GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN

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History
Entry version 204 (10 Oct 2018)
Sequence version 4 (05 May 2009)
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Protein

Keratin, type I cytoskeletal 14

Gene

KRT14

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

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.1 Publication

Miscellaneous

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

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Siteⁱ	364	Stutter		1

GO - Molecular functionⁱ

keratin filament binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20346438
structural constituent of cytoskeleton
Source: ProtInc
Traceable author statementⁱ
- 7525408

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aging
Source: UniProtKB
Inferred from direct assayⁱ
- 21916889
cornification Source: Reactome
epidermis development
Source: ProtInc
Traceable author statementⁱ
- 7525408
hair cycle
Source: UniProtKB
Inferred from direct assayⁱ
- 21916889
hemidesmosome assembly Source: Reactome
intermediate filament bundle assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 11724817
keratinization Source: Reactome
response to ionizing radiation Source: Ensembl
response to zinc ion Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-446107 Type I hemidesmosome assembly R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope
SIGNORⁱ	P02533

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Keratin, type I cytoskeletal 14 Alternative name(s): Cytokeratin-14 Short name: CK-14 Keratin-14 Short name: K14
Gene namesⁱ	Name:KRT14
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 17

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000186847.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6416 KRT14
MIMⁱ	148066 gene
neXtProtⁱ	NX_P02533

Subcellular locationⁱ

UniProt annotation
GO - Cellular component

Keywords - Cellular componentⁱ

Cytoplasm, Intermediate filament, Keratin, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)18 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.

See also OMIM:131760

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_010440	119	M → T in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs28928893EnsemblClinVar.		1
Natural variantⁱVAR_010441	120	Q → R in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60993843EnsemblClinVar.		1
Natural variantⁱVAR_023720	123	N → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs3826549EnsemblClinVar.		1
Natural variantⁱVAR_010443	123	N → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60171927EnsemblClinVar.		1
Natural variantⁱVAR_003837	125	R → C in DM-EBS. 7 PublicationsCorresponds to variant dbSNP:rs60399023EnsemblClinVar.		1
Natural variantⁱVAR_023721	125	R → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60399023EnsemblClinVar.		1
Natural variantⁱVAR_003838	125	R → H in DM-EBS. 7 PublicationsCorresponds to variant dbSNP:rs58330629EnsemblClinVar.		1
Natural variantⁱVAR_010444	125	R → S in DM-EBS. 1 Publication		1
Natural variantⁱVAR_031634	128	Missing in DM-EBS. 1 Publication		1
Natural variantⁱVAR_010445	129	Y → D in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60470268EnsemblClinVar.		1
Natural variantⁱVAR_023722	130	L → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57522245EnsemblClinVar.		1
Natural variantⁱVAR_031639	416	R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60622724EnsemblClinVar.		1
Natural variantⁱVAR_027721	417	R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61085704EnsemblClinVar.		1
Natural variantⁱVAR_003845	419	L → Q in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs57364972EnsemblClinVar.		1

Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)13 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.

See also OMIM:131800

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_010438	116	K → N in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59271739EnsemblClinVar.		1
Natural variantⁱVAR_031636	148	R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58378809EnsemblClinVar.		1
Natural variantⁱVAR_027718	211	R → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60589227EnsemblClinVar.		1
Natural variantⁱVAR_003840	270	V → M in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58560979EnsemblClinVar.		1
Natural variantⁱVAR_010448	273	D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59375065EnsemblClinVar.		1
Natural variantⁱVAR_010449	274	A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58785777EnsemblClinVar.		1
Natural variantⁱVAR_003842	375	Missing in WC-EBS. 1 Publication		1
Natural variantⁱVAR_010450	377	I → N in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61536893EnsemblClinVar.		1
Natural variantⁱVAR_010451	388	R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59966597EnsemblClinVar.		1
Natural variantⁱVAR_031637	388	R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58645163EnsemblClinVar.		1
Natural variantⁱVAR_023724	408	L → M in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57200223EnsemblClinVar.		1
Natural variantⁱVAR_027720	411	Missing in WC-EBS. 1 Publication		1
Natural variantⁱVAR_031638	415	Y → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59442925EnsemblClinVar.		1
Natural variantⁱVAR_010452	422	E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58762773EnsemblClinVar.		1

Epidermolysis bullosa simplex, Koebner type (K-EBS)10 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.

See also OMIM:131900

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_031635	134	R → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61540016EnsemblClinVar.		1
Natural variantⁱVAR_010446	143	L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61326242EnsemblClinVar.		1
Natural variantⁱVAR_010447	247	A → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs147611635Ensembl.		1
Natural variantⁱVAR_003841	272	M → R in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61371557EnsemblClinVar.		1
Natural variantⁱVAR_027719	272	M → T in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61371557EnsemblClinVar.		1
Natural variantⁱVAR_003843	384	L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs59629244EnsemblClinVar.		1
Natural variantⁱVAR_023725	413	A → T in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59780231EnsemblClinVar.		1
Natural variantⁱVAR_003844	415	Y → H in K-EBS. 3 PublicationsCorresponds to variant dbSNP:rs58380626EnsemblClinVar.		1

Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma.

See also OMIM:601001

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_003839	144	E → A in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs57121345EnsemblClinVar.		1

Naegeli-Franceschetti-Jadassohn syndrome (NFJS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:161000

Dermatopathia pigmentosa reticularis (DPR)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.

See also OMIM:125595

Keywords - Diseaseⁱ

Disease mutation, Ectodermal dysplasia, Epidermolysis bullosa, Palmoplantar keratoderma

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3861
GeneReviewsⁱ	KRT14
MalaCards human disease database More...MalaCardsⁱ	KRT14
MIMⁱ	125595 phenotype 131760 phenotype 131800 phenotype 131900 phenotype 161000 phenotype 601001 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000186847
Orphanetⁱ	86920 Dermatopathia pigmentosa reticularis 79397 Epidermolysis bullosa simplex with mottled pigmentation 79396 Epidermolysis bullosa simplex, Dowling-Meara type 79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 89838 KRT14-related epidermolysis bullosa simplex 79400 Localized epidermolysis bullosa simplex 69087 Naegeli-Franceschetti-Jadassohn syndrome
PharmGKBⁱ	PA30203

Polymorphism and mutation databases

BioMutaⁱ	KRT14
DMDMⁱ	229463044

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000063653	1 – 472	Keratin, type I cytoskeletal 14Add BLAST		472

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Disulfide bondⁱ	367	Interchain1 Publication
Modified residueⁱ	435	PhosphoserineBy similarity		1

Post-translational modificationⁱ

A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.

Keywords - PTMⁱ

Disulfide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbⁱ	P02533
PeptideAtlas More...PeptideAtlasⁱ	P02533
PRIDEⁱ	P02533
ProteomicsDBⁱ	51528

PTM databases

iPTMnetⁱ	P02533
PhosphoSitePlusⁱ	P02533
SwissPalmⁱ	P02533

Expressionⁱ

Tissue specificityⁱ

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.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000186847 Expressed in 128 organ(s), highest expression level in gingival epithelium
CleanExⁱ	HS_KRT14
Genevisibleⁱ	P02533 HS

Organism-specific databases

HPAⁱ

CAB000134
HPA000452
HPA000539
HPA023040

Interactionⁱ

Subunit structureⁱ

Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Interacts with EPPK1 (By similarity). Interacts with KLHL24 (PubMed:27798626).By similarity4 Publications

Binary interactionsⁱ

Protein-protein interaction databases

BioGridⁱ	110059, 45 interactors
Database of interacting proteins More...DIPⁱ	DIP-33874N
IntActⁱ	P02533, 44 interactors
Molecular INTeraction database More...MINTⁱ	P02533
STRINGⁱ	9606.ENSP00000167586

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

3D structure databases

ProteinModelPortalⁱ	P02533
SMRⁱ	P02533
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	115 – 426	IF rodPROSITE-ProRule annotationAdd BLAST		312

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 114	HeadAdd BLAST		114
Regionⁱ	115 – 150	Coil 1AAdd BLAST		36
Regionⁱ	151 – 168	Linker 1Add BLAST		18
Regionⁱ	169 – 260	Coil 1BAdd BLAST		92
Regionⁱ	261 – 283	Linker 12Add BLAST		23
Regionⁱ	284 – 422	Coil 2Add BLAST		139
Regionⁱ	423 – 472	TailAdd BLAST		50
Regionⁱ	425 – 472	Interaction with Type I keratins and keratin filamentsAdd BLAST		48

Sequence similaritiesⁱ

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Phylogenomic databases

eggNOGⁱ	ENOG410IFTF Eukaryota ENOG410Y9IV LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140820
HOVERGENⁱ	HBG013015
InParanoidⁱ	P02533
KEGG Orthology (KO) More...KOⁱ	K07604
OMAⁱ	SYASNGL
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G087I
PhylomeDBⁱ	P02533
TreeFamⁱ	TF332742

Family and domain databases

InterProⁱ	View protein in InterPro IPR001664 IF IPR018039 IF_conserved IPR039008 IF_rod_dom IPR002957 Keratin_I
PANTHERⁱ	PTHR23239 PTHR23239, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00038 Filament, 1 hit
PRINTSⁱ	PR01248 TYPE1KERATIN
SMARTⁱ	View protein in SMART SM01391 Filament, 1 hit
PROSITEⁱ	View protein in PROSITE PS00226 IF_ROD_1, 1 hit PS51842 IF_ROD_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P02533-1 [UniParc]FASTA Add to basket

        10         20         30         40         50
MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL 
        60         70         80         90        100
SVSSSRFSSG GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF 
       110        120        130        140        150
GGGFAGGDGL LVGSEKVTMQ NLNDRLASYL DKVRALEEAN ADLEVKIRDW 
       160        170        180        190        200
YQRQRPAEIK DYSPYFKTIE DLRNKILTAT VDNANVLLQI DNARLAADDF 
       210        220        230        240        250
RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE SLKEELAYLK 
       260        270        280        290        300
KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK 
       310        320        330        340        350
DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS 
       360        370        380        390        400
MKASLENSLE ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI 
       410        420        430        440        450
LLDVKTRLEQ EIATYRRLLE GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT 
       460        470 
KVMDVHDGKV VSTHEQVLRT KN

Length:472

Mass (Da):51,561

Last modified:May 5, 2009 - v4

Checksum:ⁱ120BA30BA2F8E397

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	26	G → A (PubMed:6210150).Curated		1
Sequence conflictⁱ	26	G → A in AAB59562 (PubMed:2580298).Curated		1
Sequence conflictⁱ	44	S → N (PubMed:6210150).Curated		1
Sequence conflictⁱ	44	S → N in AAB59562 (PubMed:2580298).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_055347	63	C → Y3 PublicationsCorresponds to variant dbSNP:rs6503640Ensembl.		1
Natural variantⁱVAR_010437	94	A → T3 PublicationsCorresponds to variant dbSNP:rs3826550EnsemblClinVar.		1
Natural variantⁱVAR_010438	116	K → N in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59271739EnsemblClinVar.		1
Natural variantⁱVAR_010439	119	M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 PublicationsCorresponds to variant dbSNP:rs57358989EnsemblClinVar.		1
Natural variantⁱVAR_010440	119	M → T in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs28928893EnsemblClinVar.		1
Natural variantⁱVAR_023719	119	M → V in K-EBS and WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs61263401EnsemblClinVar.		1
Natural variantⁱVAR_010441	120	Q → R in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60993843EnsemblClinVar.		1
Natural variantⁱVAR_010442	122	L → F in DM-EBS and K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs59110575EnsemblClinVar.		1
Natural variantⁱVAR_023720	123	N → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs3826549EnsemblClinVar.		1
Natural variantⁱVAR_010443	123	N → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60171927EnsemblClinVar.		1
Natural variantⁱVAR_003837	125	R → C in DM-EBS. 7 PublicationsCorresponds to variant dbSNP:rs60399023EnsemblClinVar.		1
Natural variantⁱVAR_023721	125	R → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60399023EnsemblClinVar.		1
Natural variantⁱVAR_003838	125	R → H in DM-EBS. 7 PublicationsCorresponds to variant dbSNP:rs58330629EnsemblClinVar.		1
Natural variantⁱVAR_010444	125	R → S in DM-EBS. 1 Publication		1
Natural variantⁱVAR_031634	128	Missing in DM-EBS. 1 Publication		1
Natural variantⁱVAR_010445	129	Y → D in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60470268EnsemblClinVar.		1
Natural variantⁱVAR_023722	130	L → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57522245EnsemblClinVar.		1
Natural variantⁱVAR_033496	133	V → A. Corresponds to variant dbSNP:rs56798071EnsemblClinVar.		1
Natural variantⁱVAR_023723	133	V → L in WC-EBS and K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs61027685EnsemblClinVar.		1
Natural variantⁱVAR_031635	134	R → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61540016EnsemblClinVar.		1
Natural variantⁱVAR_010446	143	L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61326242EnsemblClinVar.		1
Natural variantⁱVAR_003839	144	E → A in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs57121345EnsemblClinVar.		1
Natural variantⁱVAR_031636	148	R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58378809EnsemblClinVar.		1
Natural variantⁱVAR_027718	211	R → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60589227EnsemblClinVar.		1
Natural variantⁱVAR_049784	215	E → K. Corresponds to variant dbSNP:rs11551755Ensembl.		1
Natural variantⁱVAR_010447	247	A → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs147611635Ensembl.		1
Natural variantⁱVAR_003840	270	V → M in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58560979EnsemblClinVar.		1
Natural variantⁱVAR_003841	272	M → R in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61371557EnsemblClinVar.		1
Natural variantⁱVAR_027719	272	M → T in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs61371557EnsemblClinVar.		1
Natural variantⁱVAR_010448	273	D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59375065EnsemblClinVar.		1
Natural variantⁱVAR_010449	274	A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58785777EnsemblClinVar.		1
Natural variantⁱVAR_003842	375	Missing in WC-EBS. 1 Publication		1
Natural variantⁱVAR_010450	377	I → N in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61536893EnsemblClinVar.		1
Natural variantⁱVAR_003843	384	L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs59629244EnsemblClinVar.		1
Natural variantⁱVAR_010451	388	R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59966597EnsemblClinVar.		1
Natural variantⁱVAR_031637	388	R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58645163EnsemblClinVar.		1
Natural variantⁱVAR_023724	408	L → M in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57200223EnsemblClinVar.		1
Natural variantⁱVAR_027720	411	Missing in WC-EBS. 1 Publication		1
Natural variantⁱVAR_023725	413	A → T in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59780231EnsemblClinVar.		1
Natural variantⁱVAR_031638	415	Y → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59442925EnsemblClinVar.		1
Natural variantⁱVAR_003844	415	Y → H in K-EBS. 3 PublicationsCorresponds to variant dbSNP:rs58380626EnsemblClinVar.		1
Natural variantⁱVAR_031639	416	R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60622724EnsemblClinVar.		1
Natural variantⁱVAR_027721	417	R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61085704EnsemblClinVar.		1
Natural variantⁱVAR_071705	418	L → Q Probable disease-associated mutation found in epidermolysis bullosa simplex with variable phenotype. 1 Publication		1
Natural variantⁱVAR_003845	419	L → Q in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs57364972EnsemblClinVar.		1
Natural variantⁱVAR_010452	422	E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58762773EnsemblClinVar.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11400.1
PIRⁱ	A26763 KRHUE
NCBI Reference Sequences More...RefSeqⁱ	NP_000517.2, NM_000526.4
UniGeneⁱ	Hs.654380

Genome annotation databases

Ensemblⁱ	ENST00000167586; ENSP00000167586; ENSG00000186847
GeneIDⁱ	3861
KEGGⁱ	hsa:3861
UCSC genome browser More...UCSCⁱ	uc002hxf.3 human

Keywords - Coding sequence diversityⁱ

Similar proteinsⁱ

90% Identity
50% Identity

Cross-referencesⁱ

Web resourcesⁱ

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	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
CCDSⁱ	CCDS11400.1
PIRⁱ	A26763 KRHUE
RefSeqⁱ	NP_000517.2, NM_000526.4
UniGeneⁱ	Hs.654380

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3TNU	X-ray	3.00	A	295-422	[»]
ProteinModelPortalⁱ	P02533
SMRⁱ	P02533
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110059, 45 interactors
DIPⁱ	DIP-33874N
IntActⁱ	P02533, 44 interactors
MINTⁱ	P02533
STRINGⁱ	9606.ENSP00000167586

PTM databases

iPTMnetⁱ	P02533
PhosphoSitePlusⁱ	P02533
SwissPalmⁱ	P02533

Polymorphism and mutation databases

BioMutaⁱ	KRT14
DMDMⁱ	229463044

Proteomic databases

PaxDbⁱ	P02533
PeptideAtlasⁱ	P02533
PRIDEⁱ	P02533
ProteomicsDBⁱ	51528

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	3861
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000167586; ENSP00000167586; ENSG00000186847
GeneIDⁱ	3861
KEGGⁱ	hsa:3861
UCSCⁱ	uc002hxf.3 human

Organism-specific databases

CTDⁱ	3861
DisGeNETⁱ	3861
EuPathDBⁱ	HostDB:ENSG00000186847.5
GeneCardsⁱ	KRT14
GeneReviewsⁱ	KRT14
HGNCⁱ	HGNC:6416 KRT14
HPAⁱ	CAB000134 HPA000452 HPA000539 HPA023040
MalaCardsⁱ	KRT14
MIMⁱ	125595 phenotype 131760 phenotype 131800 phenotype 131900 phenotype 148066 gene 161000 phenotype 601001 phenotype
neXtProtⁱ	NX_P02533
OpenTargetsⁱ	ENSG00000186847
Orphanetⁱ	86920 Dermatopathia pigmentosa reticularis 79397 Epidermolysis bullosa simplex with mottled pigmentation 79396 Epidermolysis bullosa simplex, Dowling-Meara type 79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 89838 KRT14-related epidermolysis bullosa simplex 79400 Localized epidermolysis bullosa simplex 69087 Naegeli-Franceschetti-Jadassohn syndrome
PharmGKBⁱ	PA30203
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IFTF Eukaryota ENOG410Y9IV LUCA
GeneTreeⁱ	ENSGT00900000140820
HOVERGENⁱ	HBG013015
InParanoidⁱ	P02533
KOⁱ	K07604
OMAⁱ	SYASNGL
OrthoDBⁱ	EOG091G087I
PhylomeDBⁱ	P02533
TreeFamⁱ	TF332742

Enzyme and pathway databases

Reactomeⁱ	R-HSA-446107 Type I hemidesmosome assembly R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope
SIGNORⁱ	P02533

Miscellaneous databases

ChiTaRSⁱ	KRT14 human
GeneWikiⁱ	Keratin_14
GenomeRNAiⁱ	3861
Protein Ontology More...PROⁱ	PR:P02533
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000186847 Expressed in 128 organ(s), highest expression level in gingival epithelium
CleanExⁱ	HS_KRT14
Genevisibleⁱ	P02533 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR001664 IF IPR018039 IF_conserved IPR039008 IF_rod_dom IPR002957 Keratin_I
PANTHERⁱ	PTHR23239 PTHR23239, 1 hit
Pfamⁱ	View protein in Pfam PF00038 Filament, 1 hit
PRINTSⁱ	PR01248 TYPE1KERATIN
SMARTⁱ	View protein in SMART SM01391 Filament, 1 hit
PROSITEⁱ	View protein in PROSITE PS00226 IF_ROD_1, 1 hit PS51842 IF_ROD_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	K1C14_HUMAN
Accessionⁱ	P02533Primary (citable) accession number: P02533 Secondary accession number(s): Q14715 , Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
	Last sequence update:	May 5, 2009
	Last modified:	October 10, 2018
	This is version 204 of the entry and version 4 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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