UniProtKB - P13647 (K2C5_HUMAN)
Protein
Keratin, type II cytoskeletal 5
Gene
KRT5
Organism
Homo sapiens (Human)
Status
Functioni
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 | 419 | Stutter | 1 |
GO - Molecular functioni
- scaffold protein binding Source: BHF-UCL
- structural constituent of cytoskeleton Source: ProtInc
GO - Biological processi
- cornification Source: Reactome
- epidermis development Source: ProtInc
- hemidesmosome assembly Source: Reactome
- keratinization Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | P13647 |
Reactomei | R-HSA-446107, Type I hemidesmosome assembly R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | P13647 |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type II cytoskeletal 5Alternative name(s): 58 kDa cytokeratin Cytokeratin-5 Short name: CK-5 Keratin-5 Short name: K5 Type-II keratin Kb5 |
Gene namesi | Name:KRT5 |
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
EuPathDBi | HostDB:ENSG00000186081.11 |
HGNCi | HGNC:6442, KRT5 |
MIMi | 148040, gene |
neXtProti | NX_P13647 |
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
Plasma Membrane
- plasma membrane Source: Ensembl
Other locations
Keywords - Cellular componenti
Intermediate filament, KeratinPathology & Biotechi
Involvement in diseasei
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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026537 | 170 | E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs59115483EnsemblClinVar. | 1 | |
Natural variantiVAR_026544 | 418 | E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs121912476EnsemblClinVar. | 1 |
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)11 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071630 | 165 | R → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607456EnsemblClinVar. | 1 | |
Natural variantiVAR_027722 | 168 | E → K in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs58619430EnsemblClinVar. | 1 | |
Natural variantiVAR_027723 | 169 | R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60720877EnsemblClinVar. | 1 | |
Natural variantiVAR_010456 | 175 | L → F in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57890479EnsemblClinVar. | 1 | |
Natural variantiVAR_010457 | 176 | N → S in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs59092197EnsemblClinVar. | 1 | |
Natural variantiVAR_010458 | 179 | F → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57781042EnsemblClinVar. | 1 | |
Natural variantiVAR_010459 | 181 | S → P in DM-EBS; with laryngeal involvement. 1 PublicationCorresponds to variant dbSNP:rs60715293EnsemblClinVar. | 1 | |
Natural variantiVAR_003873 | 193 | N → K in DM-EBS and WC-EBS. 3 PublicationsCorresponds to variant dbSNP:rs60586163EnsemblClinVar. | 1 | |
Natural variantiVAR_010466 | 467 | I → T in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60271599EnsemblClinVar. | 1 | |
Natural variantiVAR_027726 | 469 | T → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60596287EnsemblClinVar. | 1 | |
Natural variantiVAR_003877 | 475 | E → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61348633EnsemblClinVar. | 1 | |
Natural variantiVAR_023728 | 475 | E → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57155193EnsemblClinVar. | 1 | |
Natural variantiVAR_010467 | 477 | E → K in DM-EBS. 4 PublicationsCorresponds to variant dbSNP:rs59190510EnsemblClinVar. | 1 |
Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping.
Related information in OMIMEpidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)15 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010454 | 152 | P → L in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60617604EnsemblClinVar. | 1 | |
Natural variantiVAR_031641 | 158 | D → V in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61222761EnsemblClinVar. | 1 | |
Natural variantiVAR_003872 | 161 | I → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58058996EnsemblClinVar. | 1 | |
Natural variantiVAR_026536 | 167 | E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57378129EnsemblClinVar. | 1 | |
Natural variantiVAR_026538 | 177 | N → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61495052EnsemblClinVar. | 1 | |
Natural variantiVAR_071631 | 186 | V → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607457EnsemblClinVar. | 1 | |
Natural variantiVAR_027724 | 190 | E → K in WC-EBS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs58976397EnsemblClinVar. | 1 | |
Natural variantiVAR_003873 | 193 | N → K in DM-EBS and WC-EBS. 3 PublicationsCorresponds to variant dbSNP:rs60586163EnsemblClinVar. | 1 | |
Natural variantiVAR_026539 | 199 | K → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58766676EnsemblClinVar. | 1 | |
Natural variantiVAR_026540 | 311 | L → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59864957Ensembl. | 1 | |
Natural variantiVAR_071632 | 321 | T → P in WC-EBS. 1 Publication | 1 | |
Natural variantiVAR_026541 | 324 | V → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59335325EnsemblClinVar. | 1 | |
Natural variantiVAR_010462 | 327 | M → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58072617EnsemblClinVar. | 1 | |
Natural variantiVAR_003874 | 327 | M → T in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs58072617EnsemblClinVar. | 1 | |
Natural variantiVAR_026542 | 328 | D → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59464425EnsemblClinVar. | 1 | |
Natural variantiVAR_026543 | 328 | D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57142010EnsemblClinVar. | 1 | |
Natural variantiVAR_010463 | 328 | D → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56790237EnsemblClinVar. | 1 | |
Natural variantiVAR_010464 | 328 | D → V in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57142010EnsemblClinVar. | 1 | |
Natural variantiVAR_010465 | 329 | N → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59730172EnsemblClinVar. | 1 | |
Natural variantiVAR_003875 | 331 | R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61297109EnsemblClinVar. | 1 | |
Natural variantiVAR_027725 | 331 | R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56729325EnsemblClinVar. | 1 | |
Natural variantiVAR_031644 | 352 | R → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59112594EnsemblClinVar. | 1 | |
Natural variantiVAR_023726 | 404 | K → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60809982EnsemblClinVar. | 1 | |
Natural variantiVAR_071633 | 428 | A → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607458EnsemblClinVar. | 1 | |
Natural variantiVAR_023727 | 438 | A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57845028EnsemblClinVar. | 1 |
Epidermolysis bullosa simplex, Koebner type (K-EBS)7 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031640 | 143 | V → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59851104EnsemblClinVar. | 1 | |
Natural variantiVAR_010455 | 173 | K → N in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58163069EnsemblClinVar. | 1 | |
Natural variantiVAR_013829 | 186 | V → L in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs121912475EnsemblClinVar. | 1 | |
Natural variantiVAR_031642 | 186 | V → M in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs121912475EnsemblClinVar. | 1 | |
Natural variantiVAR_031643 | 191 | Q → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs57751134EnsemblClinVar. | 1 | |
Natural variantiVAR_010460 | 323 | V → A in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59840738EnsemblClinVar. | 1 | |
Natural variantiVAR_010461 | 325 | L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58107458EnsemblClinVar. | 1 | |
Natural variantiVAR_003876 | 463 | L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57599352EnsemblClinVar. | 1 | |
Natural variantiVAR_031645 | 517 | G → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58608695EnsemblClinVar. | 1 |
Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010453 | 25 | P → L in MP-EBS. 4 PublicationsCorresponds to variant dbSNP:rs57499817EnsemblClinVar. | 1 |
Dowling-Degos disease 1 (DDD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.
Related information in OMIMKeywords - Diseasei
Disease mutation, Epidermolysis bullosaOrganism-specific databases
DisGeNETi | 3852 |
GeneReviewsi | KRT5 |
MalaCardsi | KRT5 |
MIMi | 131760, phenotype 131800, phenotype 131900, phenotype 131960, phenotype 179850, phenotype 601001, phenotype 609352, phenotype |
OpenTargetsi | ENSG00000186081 |
Orphaneti | 79145, Dowling-Degos disease 158681, Epidermolysis bullosa simplex with circinate migratory erythema 79397, Epidermolysis bullosa simplex with mottled pigmentation 79399, Epidermolysis bullosa simplex, generalized intermediate 79396, Epidermolysis bullosa simplex, generalized severe 79400, Localized epidermolysis bullosa simplex |
PharmGKBi | PA30230 |
Miscellaneous databases
Pharosi | P13647, Tbio |
Protein family/group databases
Allergomei | 415, Hom s 5 |
Chemistry databases
DrugBanki | DB01593, Zinc DB14487, Zinc acetate |
Polymorphism and mutation databases
BioMutai | KRT5 |
DMDMi | 143811411 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063727 | 1 – 590 | Keratin, type II cytoskeletal 5Add BLAST | 590 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 5 | PhosphoserineBy similarity | 1 | |
Modified residuei | 8 | PhosphoserineBy similarity | 1 | |
Modified residuei | 16 | PhosphoserineBy similarity | 1 | |
Modified residuei | 21 | PhosphoserineBy similarity | 1 | |
Modified residuei | 26 | PhosphoserineBy similarity | 1 | |
Modified residuei | 36 | PhosphoserineBy similarity | 1 | |
Modified residuei | 50 | PhosphoserineBy similarity | 1 | |
Modified residuei | 64 | PhosphoserineBy similarity | 1 | |
Modified residuei | 71 | PhosphoserineBy similarity | 1 | |
Modified residuei | 75 | PhosphoserineBy similarity | 1 | |
Modified residuei | 82 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P13647 |
MassIVEi | P13647 |
PaxDbi | P13647 |
PeptideAtlasi | P13647 |
PRIDEi | P13647 |
ProteomicsDBi | 52954 |
PTM databases
iPTMneti | P13647 |
PhosphoSitePlusi | P13647 |
SwissPalmi | P13647 |
Expressioni
Tissue specificityi
Expressed in corneal epithelium (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000186081, Expressed in ectocervix and 154 other tissues |
ExpressionAtlasi | P13647, baseline and differential |
Genevisiblei | P13647, HS |
Organism-specific databases
HPAi | ENSG00000186081, Tissue enhanced (esophagus, skin, tongue) |
Interactioni
Subunit structurei
Heterodimer of a type I and a type II keratin. Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network (PubMed:28899683). Heterodimer with KRT14 (PubMed:22705788).
Interacts with TCHP (PubMed:15731013).
Interacts with EPPK1 (By similarity).
By similarity3 PublicationsBinary interactionsi
Hide detailsP13647
GO - Molecular functioni
- scaffold protein binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 110050, 99 interactors |
ComplexPortali | CPX-888, Keratin-5 - Keratin-14 dimer complex |
DIPi | DIP-39N |
IntActi | P13647, 50 interactors |
MINTi | P13647 |
STRINGi | 9606.ENSP00000252242 |
Miscellaneous databases
RNActi | P13647, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P13647 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 168 – 481 | IF rodPROSITE-ProRule annotationAdd BLAST | 314 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 167 | HeadAdd BLAST | 167 | |
Regioni | 168 – 203 | Coil 1AAdd BLAST | 36 | |
Regioni | 204 – 222 | Linker 1Add BLAST | 19 | |
Regioni | 223 – 315 | Coil 1BAdd BLAST | 93 | |
Regioni | 316 – 338 | Linker 12Add BLAST | 23 | |
Regioni | 339 – 477 | Coil 2Add BLAST | 139 | |
Regioni | 478 – 590 | TailAdd BLAST | 113 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 39 – 139 | Gly-richAdd BLAST | 101 | |
Compositional biasi | 528 – 590 | Ser-richAdd BLAST | 63 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QURK, Eukaryota |
GeneTreei | ENSGT00940000160458 |
HOGENOMi | CLU_012560_6_1_1 |
InParanoidi | P13647 |
OMAi | QSTVSFR |
OrthoDBi | 824246at2759 |
PhylomeDBi | P13647 |
TreeFami | TF317854 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR032444, Keratin_2_head IPR003054, Keratin_II |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
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 |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
P13647-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS
60 70 80 90 100
LAGACGVGGY GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG
110 120 130 140 150
AGSGFGFGGG AGGGFGLGGG AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL
160 170 180 190 200
TPLNLQIDPS IQRVRTEERE QIKTLNNKFA SFIDKVRFLE QQNKVLDTKW
210 220 230 240 250
TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL DSELRNMQDL
260 270 280 290 300
VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI
310 320 330 340 350
NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA
360 370 380 390 400
NRSRTEAESW YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI
410 420 430 440 450
DNVKKQCANL QNAIADAEQR GELALKDARN KLAELEEALQ KAKQDMARLL
460 470 480 490 500
REYQELMNTK LALDVEIATY RKLLEGEECR LSGEGVGPVN ISVVTSSVSS
510 520 530 540 550
GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV GLGGGLSVGG
560 570 580 590
SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKS
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YI76 | H0YI76_HUMAN | Keratin, type II cytoskeletal 5 | KRT5 | 201 | Annotation score: | ||
F8W0C6 | F8W0C6_HUMAN | Keratin, type II cytoskeletal 5 | KRT5 | 178 | Annotation score: | ||
H0YIN9 | H0YIN9_HUMAN | Keratin, type II cytoskeletal 5 | KRT5 | 196 | Annotation score: | ||
F8VV57 | F8VV57_HUMAN | Keratin, type II cytoskeletal 5 | KRT5 | 132 | Annotation score: | ||
F8VU69 | F8VU69_HUMAN | Keratin, type II cytoskeletal 5 | KRT5 | 147 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 9 – 11 | FRS → SGA (PubMed:2476664).Curated | 3 | |
Sequence conflicti | 261 | E → Q in AAA36145 (PubMed:2447486).Curated | 1 | |
Sequence conflicti | 271 | E → H in AAA36145 (PubMed:2447486).Curated | 1 | |
Sequence conflicti | 375 | H → E (PubMed:2455002).Curated | 1 | |
Sequence conflicti | 558 | G → S (PubMed:2476664).Curated | 1 | |
Sequence conflicti | 558 | G → S in AAA36145 (PubMed:2447486).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010453 | 25 | P → L in MP-EBS. 4 PublicationsCorresponds to variant dbSNP:rs57499817EnsemblClinVar. | 1 | |
Natural variantiVAR_028763 | 79 | S → R2 PublicationsCorresponds to variant dbSNP:rs1065115EnsemblClinVar. | 1 | |
Natural variantiVAR_003871 | 138 | G → E1 PublicationCorresponds to variant dbSNP:rs11170164EnsemblClinVar. | 1 | |
Natural variantiVAR_031640 | 143 | V → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59851104EnsemblClinVar. | 1 | |
Natural variantiVAR_010454 | 152 | P → L in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60617604EnsemblClinVar. | 1 | |
Natural variantiVAR_031641 | 158 | D → V in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61222761EnsemblClinVar. | 1 | |
Natural variantiVAR_003872 | 161 | I → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58058996EnsemblClinVar. | 1 | |
Natural variantiVAR_071630 | 165 | R → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607456EnsemblClinVar. | 1 | |
Natural variantiVAR_026536 | 167 | E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57378129EnsemblClinVar. | 1 | |
Natural variantiVAR_027722 | 168 | E → K in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs58619430EnsemblClinVar. | 1 | |
Natural variantiVAR_027723 | 169 | R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60720877EnsemblClinVar. | 1 | |
Natural variantiVAR_026537 | 170 | E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs59115483EnsemblClinVar. | 1 | |
Natural variantiVAR_010455 | 173 | K → N in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58163069EnsemblClinVar. | 1 | |
Natural variantiVAR_010456 | 175 | L → F in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57890479EnsemblClinVar. | 1 | |
Natural variantiVAR_010457 | 176 | N → S in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs59092197EnsemblClinVar. | 1 | |
Natural variantiVAR_026538 | 177 | N → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61495052EnsemblClinVar. | 1 | |
Natural variantiVAR_010458 | 179 | F → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57781042EnsemblClinVar. | 1 | |
Natural variantiVAR_010459 | 181 | S → P in DM-EBS; with laryngeal involvement. 1 PublicationCorresponds to variant dbSNP:rs60715293EnsemblClinVar. | 1 | |
Natural variantiVAR_071631 | 186 | V → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607457EnsemblClinVar. | 1 | |
Natural variantiVAR_013829 | 186 | V → L in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs121912475EnsemblClinVar. | 1 | |
Natural variantiVAR_031642 | 186 | V → M in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs121912475EnsemblClinVar. | 1 | |
Natural variantiVAR_027724 | 190 | E → K in WC-EBS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs58976397EnsemblClinVar. | 1 | |
Natural variantiVAR_031643 | 191 | Q → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs57751134EnsemblClinVar. | 1 | |
Natural variantiVAR_003873 | 193 | N → K in DM-EBS and WC-EBS. 3 PublicationsCorresponds to variant dbSNP:rs60586163EnsemblClinVar. | 1 | |
Natural variantiVAR_028764 | 197 | D → E2 PublicationsCorresponds to variant dbSNP:rs641615EnsemblClinVar. | 1 | |
Natural variantiVAR_026539 | 199 | K → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58766676EnsemblClinVar. | 1 | |
Natural variantiVAR_028765 | 232 | S → N. Corresponds to variant dbSNP:rs200333163Ensembl. | 1 | |
Natural variantiVAR_026540 | 311 | L → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59864957Ensembl. | 1 | |
Natural variantiVAR_071632 | 321 | T → P in WC-EBS. 1 Publication | 1 | |
Natural variantiVAR_010460 | 323 | V → A in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59840738EnsemblClinVar. | 1 | |
Natural variantiVAR_026541 | 324 | V → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59335325EnsemblClinVar. | 1 | |
Natural variantiVAR_010461 | 325 | L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58107458EnsemblClinVar. | 1 | |
Natural variantiVAR_010462 | 327 | M → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58072617EnsemblClinVar. | 1 | |
Natural variantiVAR_003874 | 327 | M → T in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs58072617EnsemblClinVar. | 1 | |
Natural variantiVAR_026542 | 328 | D → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59464425EnsemblClinVar. | 1 | |
Natural variantiVAR_026543 | 328 | D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57142010EnsemblClinVar. | 1 | |
Natural variantiVAR_010463 | 328 | D → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56790237EnsemblClinVar. | 1 | |
Natural variantiVAR_010464 | 328 | D → V in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57142010EnsemblClinVar. | 1 | |
Natural variantiVAR_010465 | 329 | N → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59730172EnsemblClinVar. | 1 | |
Natural variantiVAR_003875 | 331 | R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61297109EnsemblClinVar. | 1 | |
Natural variantiVAR_027725 | 331 | R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56729325EnsemblClinVar. | 1 | |
Natural variantiVAR_031644 | 352 | R → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59112594EnsemblClinVar. | 1 | |
Natural variantiVAR_028766 | 387 | S → T2 PublicationsCorresponds to variant dbSNP:rs2669875EnsemblClinVar. | 1 | |
Natural variantiVAR_023726 | 404 | K → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60809982EnsemblClinVar. | 1 | |
Natural variantiVAR_026544 | 418 | E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs121912476EnsemblClinVar. | 1 | |
Natural variantiVAR_071633 | 428 | A → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607458EnsemblClinVar. | 1 | |
Natural variantiVAR_023727 | 438 | A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57845028EnsemblClinVar. | 1 | |
Natural variantiVAR_003876 | 463 | L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57599352EnsemblClinVar. | 1 | |
Natural variantiVAR_010466 | 467 | I → T in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60271599EnsemblClinVar. | 1 | |
Natural variantiVAR_027726 | 469 | T → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60596287EnsemblClinVar. | 1 | |
Natural variantiVAR_003877 | 475 | E → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61348633EnsemblClinVar. | 1 | |
Natural variantiVAR_023728 | 475 | E → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57155193EnsemblClinVar. | 1 | |
Natural variantiVAR_010467 | 477 | E → K in DM-EBS. 4 PublicationsCorresponds to variant dbSNP:rs59190510EnsemblClinVar. | 1 | |
Natural variantiVAR_031645 | 517 | G → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58608695EnsemblClinVar. | 1 | |
Natural variantiVAR_028767 | 528 | S → G1 PublicationCorresponds to variant dbSNP:rs11549950EnsemblClinVar. | 1 | |
Natural variantiVAR_028768 | 543 | G → S2 PublicationsCorresponds to variant dbSNP:rs11549949EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M21389 mRNA Translation: AAA36143.1 M28496 Genomic DNA No translation available. AF274874 Genomic DNA Translation: AAF97931.1 BC024292 mRNA Translation: AAH24292.1 BC042132 mRNA Translation: AAH42132.1 BC071906 mRNA Translation: AAH71906.1 M19723 mRNA Translation: AAA36145.1 AY373434 mRNA Translation: AAQ81588.1 |
CCDSi | CCDS8830.1 |
PIRi | A29904 |
RefSeqi | NP_000415.2, NM_000424.3 |
Genome annotation databases
Ensembli | ENST00000252242; ENSP00000252242; ENSG00000186081 |
GeneIDi | 3852 |
KEGGi | hsa:3852 |
UCSCi | uc001san.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Human Intermediate Filament Mutation Database |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M21389 mRNA Translation: AAA36143.1 M28496 Genomic DNA No translation available. AF274874 Genomic DNA Translation: AAF97931.1 BC024292 mRNA Translation: AAH24292.1 BC042132 mRNA Translation: AAH42132.1 BC071906 mRNA Translation: AAH71906.1 M19723 mRNA Translation: AAA36145.1 AY373434 mRNA Translation: AAQ81588.1 |
CCDSi | CCDS8830.1 |
PIRi | A29904 |
RefSeqi | NP_000415.2, NM_000424.3 |
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 | B | 350-477 | [»] | |
6JFV | X-ray | 2.60 | B/D | 379-476 | [»] | |
SMRi | P13647 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110050, 99 interactors |
ComplexPortali | CPX-888, Keratin-5 - Keratin-14 dimer complex |
DIPi | DIP-39N |
IntActi | P13647, 50 interactors |
MINTi | P13647 |
STRINGi | 9606.ENSP00000252242 |
Chemistry databases
DrugBanki | DB01593, Zinc DB14487, Zinc acetate |
Protein family/group databases
Allergomei | 415, Hom s 5 |
PTM databases
iPTMneti | P13647 |
PhosphoSitePlusi | P13647 |
SwissPalmi | P13647 |
Polymorphism and mutation databases
BioMutai | KRT5 |
DMDMi | 143811411 |
Proteomic databases
jPOSTi | P13647 |
MassIVEi | P13647 |
PaxDbi | P13647 |
PeptideAtlasi | P13647 |
PRIDEi | P13647 |
ProteomicsDBi | 52954 |
Protocols and materials databases
Antibodypediai | 3501, 1445 antibodies |
CPTCi | P13647, 2 antibodies |
DNASUi | 3852 |
Genome annotation databases
Ensembli | ENST00000252242; ENSP00000252242; ENSG00000186081 |
GeneIDi | 3852 |
KEGGi | hsa:3852 |
UCSCi | uc001san.4, human |
Organism-specific databases
CTDi | 3852 |
DisGeNETi | 3852 |
EuPathDBi | HostDB:ENSG00000186081.11 |
GeneCardsi | KRT5 |
GeneReviewsi | KRT5 |
HGNCi | HGNC:6442, KRT5 |
HPAi | ENSG00000186081, Tissue enhanced (esophagus, skin, tongue) |
MalaCardsi | KRT5 |
MIMi | 131760, phenotype 131800, phenotype 131900, phenotype 131960, phenotype 148040, gene 179850, phenotype 601001, phenotype 609352, phenotype |
neXtProti | NX_P13647 |
OpenTargetsi | ENSG00000186081 |
Orphaneti | 79145, Dowling-Degos disease 158681, Epidermolysis bullosa simplex with circinate migratory erythema 79397, Epidermolysis bullosa simplex with mottled pigmentation 79399, Epidermolysis bullosa simplex, generalized intermediate 79396, Epidermolysis bullosa simplex, generalized severe 79400, Localized epidermolysis bullosa simplex |
PharmGKBi | PA30230 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QURK, Eukaryota |
GeneTreei | ENSGT00940000160458 |
HOGENOMi | CLU_012560_6_1_1 |
InParanoidi | P13647 |
OMAi | QSTVSFR |
OrthoDBi | 824246at2759 |
PhylomeDBi | P13647 |
TreeFami | TF317854 |
Enzyme and pathway databases
PathwayCommonsi | P13647 |
Reactomei | R-HSA-446107, Type I hemidesmosome assembly R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | P13647 |
Miscellaneous databases
BioGRID-ORCSi | 3852, 2 hits in 845 CRISPR screens |
ChiTaRSi | KRT5, human |
GeneWikii | Keratin_5 |
GenomeRNAii | 3852 |
Pharosi | P13647, Tbio |
PROi | PR:P13647 |
RNActi | P13647, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186081, Expressed in ectocervix and 154 other tissues |
ExpressionAtlasi | P13647, baseline and differential |
Genevisiblei | P13647, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR032444, Keratin_2_head IPR003054, Keratin_II |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
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 | K2C5_HUMAN | |
Accessioni | P13647Primary (citable) accession number: P13647 Secondary accession number(s): Q6PI71, Q6UBJ0, Q8TA91 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 1, 1990 |
Last sequence update: | April 3, 2007 | |
Last modified: | December 2, 2020 | |
This is version 232 of the entry and version 3 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 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations