UniProtKB - P02533 (K1C14_HUMAN)
Protein
Keratin, type I cytoskeletal 14
Gene
KRT14
Organism
Homo sapiens (Human)
Status
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
- structural constituent of cytoskeleton Source: ProtInc
GO - Biological processi
- aging Source: UniProtKB
- cornification Source: Reactome
- epidermis development Source: ProtInc
- hair cycle Source: UniProtKB
- hemidesmosome assembly Source: Reactome
- intermediate filament bundle assembly Source: UniProtKB
- keratinization Source: Reactome
- response to ionizing radiation Source: Ensembl
- response to zinc ion Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | P02533 |
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 14Alternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6416, KRT14 |
MIMi | 148066, gene |
neXtProti | NX_P02533 |
VEuPathDBi | HostDB:ENSG00000186847.5 |
Subcellular locationi
Cytoskeleton
- intermediate filament Source: BHF-UCL
- keratin filament Source: MGI
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- basal part of cell Source: Ensembl
- cell periphery Source: Ensembl
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Intermediate filament, Keratin, NucleusPathology & Biotechi
Involvement in diseasei
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)18 Publications
The disease is caused by variants 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.
Related information in OMIMFeature 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_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_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 variants 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.
Related information in OMIMFeature 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_023719 | 119 | M → V in K-EBS and WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs61263401EnsemblClinVar. | 1 | |
Natural variantiVAR_023723 | 133 | V → L in WC-EBS and K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs61027685EnsemblClinVar. | 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 PublicationCorresponds to variant dbSNP:rs56974573Ensembl. | 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 PublicationCorresponds to variant dbSNP:rs267607389Ensembl. | 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 variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023719 | 119 | M → V in K-EBS and WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs61263401EnsemblClinVar. | 1 | |
Natural variantiVAR_010442 | 122 | L → F in DM-EBS and K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs59110575EnsemblClinVar. | 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_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 variants 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.
Related information in OMIMFeature 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 variants 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.
Related information in OMIMDermatopathia pigmentosa reticularis (DPR)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Disease variant, Ectodermal dysplasia, Epidermolysis bullosa, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 3861 |
GeneReviewsi | KRT14 |
MalaCardsi | KRT14 |
MIMi | 125595, phenotype 131760, phenotype 131800, phenotype 131900, phenotype 161000, phenotype 601001, phenotype |
OpenTargetsi | ENSG00000186847 |
Orphaneti | 86920, Dermatopathia pigmentosa reticularis 79397, Epidermolysis bullosa simplex with mottled pigmentation 89838, Epidermolysis bullosa simplex, autosomal recessive K14 79399, Epidermolysis bullosa simplex, generalized intermediate 79396, Epidermolysis bullosa simplex, generalized severe 79400, Localized epidermolysis bullosa simplex 69087, Naegeli-Franceschetti-Jadassohn syndrome |
PharmGKBi | PA30203 |
Miscellaneous databases
Pharosi | P02533, Tbio |
Chemistry databases
DrugBanki | DB01593, Zinc DB14487, Zinc acetate |
Genetic variation 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.
Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.1 Publication
Keywords - PTMi
Disulfide bond, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | P02533 |
MassIVEi | P02533 |
PaxDbi | P02533 |
PeptideAtlasi | P02533 |
PRIDEi | P02533 |
ProteomicsDBi | 51528 |
PTM databases
iPTMneti | P02533 |
PhosphoSitePlusi | P02533 |
SwissPalmi | P02533 |
Expressioni
Tissue specificityi
Expressed in the corneal epithelium (at protein level) (PubMed:26758872). 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 (PubMed:9457912). Found in keratinocytes surrounding the club hair during telogen (PubMed:9457912).2 Publications
Gene expression databases
Bgeei | ENSG00000186847, Expressed in gingival epithelium and 141 other tissues |
Genevisiblei | P02533, HS |
Organism-specific databases
HPAi | ENSG00000186847, Group enriched (skin, tongue) |
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 PublicationsBinary interactionsi
Hide detailsP02533
Protein-protein interaction databases
BioGRIDi | 110059, 103 interactors |
ComplexPortali | CPX-888, Keratin-5 - Keratin-14 dimer complex |
DIPi | DIP-33874N |
IntActi | P02533, 63 interactors |
MINTi | P02533 |
STRINGi | 9606.ENSP00000167586 |
Miscellaneous databases
RNActi | P02533, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P02533 |
ModBasei | Search... |
PDBe-KBi | 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
Coiled coilPhylogenomic databases
eggNOGi | ENOG502R8V7, Eukaryota |
GeneTreei | ENSGT00940000154602 |
HOGENOMi | CLU_012560_8_1_1 |
InParanoidi | P02533 |
OMAi | YWATIND |
OrthoDBi | 798081at2759 |
PhylomeDBi | P02533 |
TreeFami | TF332742 |
Family and domain databases
DisProti | DP02605 |
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B 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 |
i Sequence
Sequence statusi: Complete.
P02533-1 [UniParc]FASTAAdd 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
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:rs56798071Ensembl. | 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 PublicationCorresponds to variant dbSNP:rs56974573Ensembl. | 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 PublicationCorresponds to variant dbSNP:rs267607389Ensembl. | 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 variant 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 |
CCDSi | CCDS11400.1 |
PIRi | A26763, KRHUE |
RefSeqi | NP_000517.2, NM_000526.4 |
Genome annotation databases
Ensembli | ENST00000167586; ENSP00000167586; ENSG00000186847 |
GeneIDi | 3861 |
KEGGi | hsa:3861 |
UCSCi | uc002hxf.3, human |
Similar proteinsi
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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3TNU | X-ray | 3.00 | A | 295-422 | [»] | |
6JFV | X-ray | 2.60 | A/C | 327-421 | [»] | |
SMRi | P02533 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110059, 103 interactors |
ComplexPortali | CPX-888, Keratin-5 - Keratin-14 dimer complex |
DIPi | DIP-33874N |
IntActi | P02533, 63 interactors |
MINTi | P02533 |
STRINGi | 9606.ENSP00000167586 |
Chemistry databases
DrugBanki | DB01593, Zinc DB14487, Zinc acetate |
PTM databases
iPTMneti | P02533 |
PhosphoSitePlusi | P02533 |
SwissPalmi | P02533 |
Genetic variation databases
BioMutai | KRT14 |
DMDMi | 229463044 |
Proteomic databases
jPOSTi | P02533 |
MassIVEi | P02533 |
PaxDbi | P02533 |
PeptideAtlasi | P02533 |
PRIDEi | P02533 |
ProteomicsDBi | 51528 |
Protocols and materials databases
Antibodypediai | 3600, 1236 antibodies |
DNASUi | 3861 |
Genome annotation databases
Ensembli | ENST00000167586; ENSP00000167586; ENSG00000186847 |
GeneIDi | 3861 |
KEGGi | hsa:3861 |
UCSCi | uc002hxf.3, human |
Organism-specific databases
CTDi | 3861 |
DisGeNETi | 3861 |
GeneCardsi | KRT14 |
GeneReviewsi | KRT14 |
HGNCi | HGNC:6416, KRT14 |
HPAi | ENSG00000186847, Group enriched (skin, tongue) |
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 89838, Epidermolysis bullosa simplex, autosomal recessive K14 79399, Epidermolysis bullosa simplex, generalized intermediate 79396, Epidermolysis bullosa simplex, generalized severe 79400, Localized epidermolysis bullosa simplex 69087, Naegeli-Franceschetti-Jadassohn syndrome |
PharmGKBi | PA30203 |
VEuPathDBi | HostDB:ENSG00000186847.5 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R8V7, Eukaryota |
GeneTreei | ENSGT00940000154602 |
HOGENOMi | CLU_012560_8_1_1 |
InParanoidi | P02533 |
OMAi | YWATIND |
OrthoDBi | 798081at2759 |
PhylomeDBi | P02533 |
TreeFami | TF332742 |
Enzyme and pathway databases
PathwayCommonsi | P02533 |
Reactomei | R-HSA-446107, Type I hemidesmosome assembly R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | P02533 |
Miscellaneous databases
BioGRID-ORCSi | 3861, 12 hits in 959 CRISPR screens |
ChiTaRSi | KRT14, human |
GeneWikii | Keratin_14 |
GenomeRNAii | 3861 |
Pharosi | P02533, Tbio |
PROi | PR:P02533 |
RNActi | P02533, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186847, Expressed in gingival epithelium and 141 other tissues |
Genevisiblei | P02533, HS |
Family and domain databases
DisProti | DP02605 |
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B 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... |
MobiDBi | Search... |
Entry informationi
Entry namei | K1C14_HUMAN | |
Accessioni | P02533Primary (citable) accession number: P02533 Secondary accession number(s): Q14715 Q9UCY4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | May 5, 2009 | |
Last modified: | April 7, 2021 | |
This is version 223 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, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families