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P02533

- K1C14_HUMAN

UniProt

P02533 - K1C14_HUMAN

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Protein

Keratin, type I cytoskeletal 14

Gene

KRT14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei364 – 3641Stutter

GO - Molecular functioni

  1. keratin filament binding Source: UniProt
  2. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. aging Source: UniProt
  2. cell junction assembly Source: Reactome
  3. epidermis development Source: ProtInc
  4. epithelial cell differentiation Source: Ensembl
  5. hair cycle Source: UniProt
  6. hemidesmosome assembly Source: Reactome
  7. intermediate filament bundle assembly Source: UniProtKB
  8. response to ionizing radiation Source: Ensembl
  9. response to zinc ion Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_20537. Type I hemidesmosome assembly.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:6416. KRT14.

Subcellular locationi

Cytoplasm. Nucleus
Note: Expressed in both as a filamentous pattern.

GO - Cellular componenti

  1. cell periphery Source: Ensembl
  2. cytoplasm Source: UniProtKB
  3. cytosol Source: Reactome
  4. extracellular vesicular exosome Source: UniProt
  5. intermediate filament Source: BHF-UCL
  6. keratin filament Source: MGI
  7. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament, Keratin, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.18 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti119 – 1191M → T in DM-EBS. 2 Publications
Corresponds to variant rs28928893 [ dbSNP | Ensembl ].
VAR_010440
Natural varianti120 – 1201Q → R in DM-EBS. 1 Publication
Corresponds to variant rs60993843 [ dbSNP | Ensembl ].
VAR_010441
Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
VAR_010442
Natural varianti123 – 1231N → K in DM-EBS. 2 Publications
Corresponds to variant rs3826549 [ dbSNP | Ensembl ].
VAR_023720
Natural varianti123 – 1231N → S in DM-EBS. 1 Publication
Corresponds to variant rs60171927 [ dbSNP | Ensembl ].
VAR_010443
Natural varianti125 – 1251R → C in DM-EBS. 7 Publications
Corresponds to variant rs60399023 [ dbSNP | Ensembl ].
VAR_003837
Natural varianti125 – 1251R → G in DM-EBS. 1 Publication
VAR_023721
Natural varianti125 – 1251R → H in DM-EBS. 7 Publications
Corresponds to variant rs58330629 [ dbSNP | Ensembl ].
VAR_003838
Natural varianti125 – 1251R → S in DM-EBS. 1 Publication
VAR_010444
Natural varianti128 – 1281Missing in DM-EBS. 1 Publication
VAR_031634
Natural varianti129 – 1291Y → D in DM-EBS. 1 Publication
Corresponds to variant rs60470268 [ dbSNP | Ensembl ].
VAR_010445
Natural varianti130 – 1301L → P in DM-EBS. 1 Publication
Corresponds to variant rs57522245 [ dbSNP | Ensembl ].
VAR_023722
Natural varianti416 – 4161R → P in DM-EBS. 1 Publication
VAR_031639
Natural varianti417 – 4171R → P in DM-EBS. 1 Publication
VAR_027721
Natural varianti419 – 4191L → Q in DM-EBS. 3 Publications
VAR_003845
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161K → N in WC-EBS. 1 Publication
Corresponds to variant rs59271739 [ dbSNP | Ensembl ].
VAR_010438
Natural varianti119 – 1191M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 Publications
Corresponds to variant rs57358989 [ dbSNP | Ensembl ].
VAR_010439
Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
VAR_023719
Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
VAR_023723
Natural varianti148 – 1481R → C in WC-EBS. 1 Publication
Corresponds to variant rs58378809 [ dbSNP | Ensembl ].
VAR_031636
Natural varianti211 – 2111R → P in WC-EBS. 1 Publication
Corresponds to variant rs60589227 [ dbSNP | Ensembl ].
VAR_027718
Natural varianti270 – 2701V → M in WC-EBS. 1 Publication
Corresponds to variant rs58560979 [ dbSNP | Ensembl ].
VAR_003840
Natural varianti273 – 2731D → G in WC-EBS. 1 Publication
Corresponds to variant rs59375065 [ dbSNP | Ensembl ].
VAR_010448
Natural varianti274 – 2741A → D in WC-EBS. 1 Publication
Corresponds to variant rs58785777 [ dbSNP | Ensembl ].
VAR_010449
Natural varianti375 – 3751Missing in WC-EBS. 1 Publication
VAR_003842
Natural varianti377 – 3771I → N in WC-EBS. 1 Publication
Corresponds to variant rs61536893 [ dbSNP | Ensembl ].
VAR_010450
Natural varianti388 – 3881R → C in WC-EBS. 1 Publication
Corresponds to variant rs59966597 [ dbSNP | Ensembl ].
VAR_010451
Natural varianti388 – 3881R → H in WC-EBS. 1 Publication
Corresponds to variant rs58645163 [ dbSNP | Ensembl ].
VAR_031637
Natural varianti408 – 4081L → M in WC-EBS. 1 Publication
Corresponds to variant rs57200223 [ dbSNP | Ensembl ].
VAR_023724
Natural varianti411 – 4111Missing in WC-EBS. 1 Publication
VAR_027720
Natural varianti415 – 4151Y → C in WC-EBS. 1 Publication
VAR_031638
Natural varianti422 – 4221E → K in WC-EBS. 1 Publication
VAR_010452
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A 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.10 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
VAR_023719
Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
VAR_010442
Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
VAR_023723
Natural varianti134 – 1341R → P in K-EBS. 1 Publication
Corresponds to variant rs61540016 [ dbSNP | Ensembl ].
VAR_031635
Natural varianti143 – 1431L → P in K-EBS. 1 Publication
Corresponds to variant rs61326242 [ dbSNP | Ensembl ].
VAR_010446
Natural varianti247 – 2471A → D in K-EBS. 1 Publication
VAR_010447
Natural varianti272 – 2721M → R in K-EBS. 1 Publication
Corresponds to variant rs61371557 [ dbSNP | Ensembl ].
VAR_003841
Natural varianti272 – 2721M → T in K-EBS. 1 Publication
VAR_027719
Natural varianti384 – 3841L → P in K-EBS. 2 Publications
Corresponds to variant rs59629244 [ dbSNP | Ensembl ].
VAR_003843
Natural varianti413 – 4131A → T in K-EBS. 1 Publication
Corresponds to variant rs59780231 [ dbSNP | Ensembl ].
VAR_023725
Natural varianti415 – 4151Y → H in K-EBS. 3 Publications
VAR_003844
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti144 – 1441E → A in EBSB1. 1 Publication
Corresponds to variant rs57121345 [ dbSNP | Ensembl ].
VAR_003839
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Epidermolysis bullosa, Palmoplantar keratoderma

Organism-specific databases

MIMi125595. phenotype.
131760. phenotype.
131800. phenotype.
131900. phenotype.
161000. phenotype.
601001. phenotype.
Orphaneti89838. Autosomal recessive epidermolysis bullosa simplex.
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.
79400. Localized epidermolysis bullosa simplex.
69087. Naegeli-Franceschetti-Jadassohn syndrome.
PharmGKBiPA30203.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 472472Keratin, type I cytoskeletal 14PRO_0000063653Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi367 – 367Interchain1 Publication

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

Proteomic databases

MaxQBiP02533.
PaxDbiP02533.
PRIDEiP02533.
ProMEXiP02533.

PTM databases

PhosphoSiteiP02533.

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

BgeeiP02533.
CleanExiHS_KRT14.
ExpressionAtlasiP02533. baseline and differential.
GenevestigatoriP02533.

Organism-specific databases

HPAiCAB000134.
HPA000452.
HPA000453.
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.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PKP1Q13835-22EBI-702178,EBI-9087684

Protein-protein interaction databases

BioGridi110059. 41 interactions.
DIPiDIP-33874N.
IntActiP02533. 19 interactions.
STRINGi9606.ENSP00000167586.

Structurei

Secondary structure

1
472
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi333 – 41886

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3TNUX-ray3.00A295-422[»]
ProteinModelPortaliP02533.
SMRiP02533. Positions 165-263, 279-421.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 114114HeadAdd
BLAST
Regioni115 – 422308RodAdd
BLAST
Regioni115 – 15036Coil 1AAdd
BLAST
Regioni151 – 16818Linker 1Add
BLAST
Regioni169 – 26092Coil 1BAdd
BLAST
Regioni261 – 28323Linker 12Add
BLAST
Regioni284 – 422139Coil 2Add
BLAST
Regioni423 – 47250TailAdd
BLAST
Regioni425 – 47248Interaction with Type I keratins and keratin filamentsAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG148784.
GeneTreeiENSGT00760000118808.
HOVERGENiHBG013015.
InParanoidiP02533.
KOiK07604.
OMAiTMTTCSR.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP02533.
TreeFamiTF332742.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
IPR009053. Prefoldin.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SUPFAMiSSF46579. SSF46579. 1 hit.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P02533-1 [UniParc]FASTAAdd to Basket

« Hide

        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
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261G → A(PubMed:6210150)Curated
Sequence conflicti26 – 261G → A in AAB59562. (PubMed:2580298)Curated
Sequence conflicti44 – 441S → N(PubMed:6210150)Curated
Sequence conflicti44 – 441S → N in AAB59562. (PubMed:2580298)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631C → Y.3 Publications
Corresponds to variant rs6503640 [ dbSNP | Ensembl ].
VAR_055347
Natural varianti94 – 941A → T.3 Publications
Corresponds to variant rs3826550 [ dbSNP | Ensembl ].
VAR_010437
Natural varianti116 – 1161K → N in WC-EBS. 1 Publication
Corresponds to variant rs59271739 [ dbSNP | Ensembl ].
VAR_010438
Natural varianti119 – 1191M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 Publications
Corresponds to variant rs57358989 [ dbSNP | Ensembl ].
VAR_010439
Natural varianti119 – 1191M → T in DM-EBS. 2 Publications
Corresponds to variant rs28928893 [ dbSNP | Ensembl ].
VAR_010440
Natural varianti119 – 1191M → V in K-EBS and WC-EBS. 2 Publications
Corresponds to variant rs61263401 [ dbSNP | Ensembl ].
VAR_023719
Natural varianti120 – 1201Q → R in DM-EBS. 1 Publication
Corresponds to variant rs60993843 [ dbSNP | Ensembl ].
VAR_010441
Natural varianti122 – 1221L → F in DM-EBS and K-EBS. 2 Publications
Corresponds to variant rs59110575 [ dbSNP | Ensembl ].
VAR_010442
Natural varianti123 – 1231N → K in DM-EBS. 2 Publications
Corresponds to variant rs3826549 [ dbSNP | Ensembl ].
VAR_023720
Natural varianti123 – 1231N → S in DM-EBS. 1 Publication
Corresponds to variant rs60171927 [ dbSNP | Ensembl ].
VAR_010443
Natural varianti125 – 1251R → C in DM-EBS. 7 Publications
Corresponds to variant rs60399023 [ dbSNP | Ensembl ].
VAR_003837
Natural varianti125 – 1251R → G in DM-EBS. 1 Publication
VAR_023721
Natural varianti125 – 1251R → H in DM-EBS. 7 Publications
Corresponds to variant rs58330629 [ dbSNP | Ensembl ].
VAR_003838
Natural varianti125 – 1251R → S in DM-EBS. 1 Publication
VAR_010444
Natural varianti128 – 1281Missing in DM-EBS. 1 Publication
VAR_031634
Natural varianti129 – 1291Y → D in DM-EBS. 1 Publication
Corresponds to variant rs60470268 [ dbSNP | Ensembl ].
VAR_010445
Natural varianti130 – 1301L → P in DM-EBS. 1 Publication
Corresponds to variant rs57522245 [ dbSNP | Ensembl ].
VAR_023722
Natural varianti133 – 1331V → A.
Corresponds to variant rs642601 [ dbSNP | Ensembl ].
VAR_033496
Natural varianti133 – 1331V → L in WC-EBS and K-EBS. 2 Publications
Corresponds to variant rs61027685 [ dbSNP | Ensembl ].
VAR_023723
Natural varianti134 – 1341R → P in K-EBS. 1 Publication
Corresponds to variant rs61540016 [ dbSNP | Ensembl ].
VAR_031635
Natural varianti143 – 1431L → P in K-EBS. 1 Publication
Corresponds to variant rs61326242 [ dbSNP | Ensembl ].
VAR_010446
Natural varianti144 – 1441E → A in EBSB1. 1 Publication
Corresponds to variant rs57121345 [ dbSNP | Ensembl ].
VAR_003839
Natural varianti148 – 1481R → C in WC-EBS. 1 Publication
Corresponds to variant rs58378809 [ dbSNP | Ensembl ].
VAR_031636
Natural varianti211 – 2111R → P in WC-EBS. 1 Publication
Corresponds to variant rs60589227 [ dbSNP | Ensembl ].
VAR_027718
Natural varianti215 – 2151E → K.
Corresponds to variant rs11551755 [ dbSNP | Ensembl ].
VAR_049784
Natural varianti247 – 2471A → D in K-EBS. 1 Publication
VAR_010447
Natural varianti270 – 2701V → M in WC-EBS. 1 Publication
Corresponds to variant rs58560979 [ dbSNP | Ensembl ].
VAR_003840
Natural varianti272 – 2721M → R in K-EBS. 1 Publication
Corresponds to variant rs61371557 [ dbSNP | Ensembl ].
VAR_003841
Natural varianti272 – 2721M → T in K-EBS. 1 Publication
VAR_027719
Natural varianti273 – 2731D → G in WC-EBS. 1 Publication
Corresponds to variant rs59375065 [ dbSNP | Ensembl ].
VAR_010448
Natural varianti274 – 2741A → D in WC-EBS. 1 Publication
Corresponds to variant rs58785777 [ dbSNP | Ensembl ].
VAR_010449
Natural varianti375 – 3751Missing in WC-EBS. 1 Publication
VAR_003842
Natural varianti377 – 3771I → N in WC-EBS. 1 Publication
Corresponds to variant rs61536893 [ dbSNP | Ensembl ].
VAR_010450
Natural varianti384 – 3841L → P in K-EBS. 2 Publications
Corresponds to variant rs59629244 [ dbSNP | Ensembl ].
VAR_003843
Natural varianti388 – 3881R → C in WC-EBS. 1 Publication
Corresponds to variant rs59966597 [ dbSNP | Ensembl ].
VAR_010451
Natural varianti388 – 3881R → H in WC-EBS. 1 Publication
Corresponds to variant rs58645163 [ dbSNP | Ensembl ].
VAR_031637
Natural varianti408 – 4081L → M in WC-EBS. 1 Publication
Corresponds to variant rs57200223 [ dbSNP | Ensembl ].
VAR_023724
Natural varianti411 – 4111Missing in WC-EBS. 1 Publication
VAR_027720
Natural varianti413 – 4131A → T in K-EBS. 1 Publication
Corresponds to variant rs59780231 [ dbSNP | Ensembl ].
VAR_023725
Natural varianti415 – 4151Y → C in WC-EBS. 1 Publication
VAR_031638
Natural varianti415 – 4151Y → H in K-EBS. 3 Publications
VAR_003844
Natural varianti416 – 4161R → P in DM-EBS. 1 Publication
VAR_031639
Natural varianti417 – 4171R → P in DM-EBS. 1 Publication
VAR_027721
Natural varianti418 – 4181L → Q Probable disease-associated mutation found in epidermolysis bullosa simplex with variable phenotype. 1 Publication
VAR_071705
Natural varianti419 – 4191L → Q in DM-EBS. 3 Publications
VAR_003845
Natural varianti422 – 4221E → K in WC-EBS. 1 Publication
VAR_010452

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS11400.1.
PIRiA26763. KRHUE.
RefSeqiNP_000517.2. NM_000526.4.
UniGeneiHs.654380.

Genome annotation databases

EnsembliENST00000167586; ENSP00000167586; ENSG00000186847.
GeneIDi3861.
KEGGihsa:3861.
UCSCiuc002hxf.2. human.

Polymorphism databases

DMDMi229463044.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3TNU X-ray 3.00 A 295-422 [» ]
ProteinModelPortali P02533.
SMRi P02533. Positions 165-263, 279-421.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110059. 41 interactions.
DIPi DIP-33874N.
IntActi P02533. 19 interactions.
STRINGi 9606.ENSP00000167586.

PTM databases

PhosphoSitei P02533.

Polymorphism databases

DMDMi 229463044.

Proteomic databases

MaxQBi P02533.
PaxDbi P02533.
PRIDEi P02533.
ProMEXi P02533.

Protocols and materials databases

DNASUi 3861.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000167586 ; ENSP00000167586 ; ENSG00000186847 .
GeneIDi 3861.
KEGGi hsa:3861.
UCSCi uc002hxf.2. human.

Organism-specific databases

CTDi 3861.
GeneCardsi GC17M039738.
GeneReviewsi KRT14.
HGNCi HGNC:6416. KRT14.
HPAi CAB000134.
HPA000452.
HPA000453.
HPA023040.
MIMi 125595. phenotype.
131760. phenotype.
131800. phenotype.
131900. phenotype.
148066. gene.
161000. phenotype.
601001. phenotype.
neXtProti NX_P02533.
Orphaneti 89838. Autosomal recessive epidermolysis bullosa simplex.
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.
79400. Localized epidermolysis bullosa simplex.
69087. Naegeli-Franceschetti-Jadassohn syndrome.
PharmGKBi PA30203.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG148784.
GeneTreei ENSGT00760000118808.
HOVERGENi HBG013015.
InParanoidi P02533.
KOi K07604.
OMAi TMTTCSR.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P02533.
TreeFami TF332742.

Enzyme and pathway databases

Reactomei REACT_20537. Type I hemidesmosome assembly.

Miscellaneous databases

GeneWikii Keratin_14.
GenomeRNAii 3861.
NextBioi 15195.
PROi P02533.
SOURCEi Search...

Gene expression databases

Bgeei P02533.
CleanExi HS_KRT14.
ExpressionAtlasi P02533. baseline and differential.
Genevestigatori P02533.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
IPR009053. Prefoldin.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01248. TYPE1KERATIN.
SUPFAMi SSF46579. SSF46579. 1 hit.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Remarkable conservation of structure among intermediate filament genes."
    Marchuk D., McCrohon S., Fuchs E.
    Cell 39:491-498(1984) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION.
  14. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. "Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
    Lee C.H., Kim M.S., Chung B.M., Leahy D.J., Coulombe P.A.
    Nat. Struct. Mol. Biol. 19:707-715(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 295-422 IN COMPLEX WITH KRT5, DISULFIDE BOND, SUBCELLULAR LOCATION.
  17. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS PRO-384.
  18. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS GLU-375 DEL.
  19. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS ARG-272.
  20. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS HIS-125.
  21. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT EBSB1 ALA-144.
  22. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS MET-270.
  23. "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] [Europe PMC] [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.
  24. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS ILE-119.
  25. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS THR-119.
  26. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS GLY-273.
  27. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS CYS-125.
  28. "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.
  29. "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] [Europe PMC] [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.
  30. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS HIS-125.
  31. "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] [Europe PMC] [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.
  32. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134.
  33. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119.
  34. Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125.
  35. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408.
  36. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148.
  37. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133.
  38. "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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR.
  39. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125.
  40. "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] [Europe PMC] [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.
  41. "Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype."
    Jankowski M., Wertheim-Tysarowska K., Jakubowski R., Sota J., Nowak W., Czajkowski R.
    Exp. Dermatol. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-418.

Entry informationi

Entry nameiK1C14_HUMAN
AccessioniPrimary (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 29, 2014
This is version 168 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3