P13647 · K2C5_HUMAN
- ProteinKeratin, type II cytoskeletal 5
- GeneKRT5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids590 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress (By similarity).
Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity).
Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity).
Miscellaneous
There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 419 | Stutter | ||||
Sequence: Q |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Cellular Component | intermediate filament | |
Cellular Component | keratin filament | |
Cellular Component | membrane | |
Cellular Component | nucleus | |
Molecular Function | scaffold protein binding | |
Molecular Function | structural constituent of cytoskeleton | |
Molecular Function | structural constituent of skin epidermis | |
Biological Process | epidermis development | |
Biological Process | intermediate filament organization | |
Biological Process | intermediate filament polymerization | |
Biological Process | keratinization | |
Biological Process | regulation of cell migration | |
Biological Process | regulation of protein localization | |
Biological Process | response to mechanical stimulus |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameKeratin, type II cytoskeletal 5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP13647
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Epidermolysis bullosa simplex 2A, generalized severe (EBS2A)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features.
- See alsoMIM:619555
Natural variants in EBS2A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086626 | 144-145 | missing | in EBS2A; uncertain significance | |
VAR_071630 | 165 | R>S | in EBS2A; dbSNP:rs267607456 | |
VAR_027722 | 168 | E>K | in EBS2A; dbSNP:rs58619430 | |
VAR_027723 | 169 | R>P | in EBS2A; dbSNP:rs60720877 | |
VAR_010456 | 175 | L>F | in EBS2A; dbSNP:rs57890479 | |
VAR_010457 | 176 | N>S | in EBS2A; dbSNP:rs59092197 | |
VAR_010458 | 179 | F>S | in EBS2A; dbSNP:rs57781042 | |
VAR_086636 | 180 | A>P | in EBS2A; uncertain significance; dbSNP:rs267607451 | |
VAR_010459 | 181 | S>P | in EBS2A; with laryngeal involvement; dbSNP:rs60715293 | |
VAR_086637 | 183 | I>M | in EBS2A; uncertain significance; dbSNP:rs267607443 | |
VAR_031643 | 191 | Q>P | in EBS2B and EBS2A; uncertain significance; dbSNP:rs57751134 | |
VAR_003873 | 193 | N>K | in EBS2A and EBS2C; dbSNP:rs60586163 | |
VAR_086649 | 467 | I>M | in EBS2A;; dbSNP:rs60062350 | |
VAR_010466 | 467 | I>T | in EBS2A; dbSNP:rs60271599 | |
VAR_027726 | 469 | T>P | in EBS2A; dbSNP:rs60596287 | |
VAR_003877 | 475 | E>G | in EBS2A; dbSNP:rs61348633 | |
VAR_010467 | 477 | E>K | in EBS2A; dbSNP:rs59190510 | |
VAR_086654 | 478 | E>K | in EBS2A; uncertain significance; dbSNP:rs267607438 |
Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet.
- See alsoMIM:619588
Natural variants in EBS2B
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086624 | 143 | V>A | in EBS2B; dbSNP:rs59851104 | |
VAR_031640 | 143 | V>D | in EBS2B; dbSNP:rs59851104 | |
VAR_086629 | 150 | L>P | in EBS2B; uncertain significance; dbSNP:rs62635291 | |
VAR_086633 | 168 | E>D | in EBS2B; uncertain significance | |
VAR_026537 | 170 | E>K | in EBS2C, EBS2B and EBS2D; dbSNP:rs59115483 | |
VAR_010455 | 173 | K>N | in EBS2B; dbSNP:rs58163069 | |
VAR_086635 | 180 | A>D | in EBS2B; dbSNP:rs58480900 | |
VAR_013829 | 186 | V>L | in EBS2B; dbSNP:rs121912475 | |
VAR_031642 | 186 | V>M | in EBS2B; uncertain significance; dbSNP:rs121912475 | |
VAR_031643 | 191 | Q>P | in EBS2B and EBS2A; uncertain significance; dbSNP:rs57751134 | |
VAR_010460 | 323 | V>A | in EBS2B; dbSNP:rs59840738 | |
VAR_010461 | 325 | L>P | in EBS2B; dbSNP:rs58107458 | |
VAR_023727 | 438 | A>D | in EBS2C and EBS2B; uncertain significance; dbSNP:rs57845028 | |
VAR_003876 | 463 | L>P | in EBS2B; dbSNP:rs57599352 | |
VAR_086648 | 466 | E>D | in EBS2B; uncertain significance; dbSNP:rs62642056 | |
VAR_023728 | 475 | E>K | in EBS2B; dbSNP:rs57155193 | |
VAR_031645 | 517 | G>D | in EBS2B; dbSNP:rs58608695 |
Epidermolysis bullosa simplex 2C, localized (EBS2C)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic.
- See alsoMIM:619594
Natural variants in EBS2C
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086627 | 146 | N>Y | in EBS2C; uncertain significance | |
VAR_086628 | 149 | L>P | in EBS2C; uncertain significance; dbSNP:rs267607449 | |
VAR_086630 | 151 | T>P | in EBS2C; uncertain significance; dbSNP:rs267607450 | |
VAR_010454 | 152 | P>L | in EBS2C; dbSNP:rs60617604 | |
VAR_031641 | 158 | D>V | in EBS2C; uncertain significance; dbSNP:rs61222761 | |
VAR_003872 | 161 | I>S | in EBS2C; dbSNP:rs58058996 | |
VAR_026536 | 167 | E>K | in EBS2C; dbSNP:rs57378129 | |
VAR_086634 | 170 | E>G | in EBS2C; uncertain significance; dbSNP:rs57408864 | |
VAR_026537 | 170 | E>K | in EBS2C, EBS2B and EBS2D; dbSNP:rs59115483 | |
VAR_026538 | 177 | N>S | in EBS2C; dbSNP:rs61495052 | |
VAR_071631 | 186 | V>E | in EBS2C; dbSNP:rs267607457 | |
VAR_086639 | 187 | R>P | in EBS2C; uncertain significance; dbSNP:rs267607452 | |
VAR_027724 | 190 | E>K | in EBS2C; uncertain significance; also found in a patient with epidermolysis bullosa simplex with unspecified subtype; uncertain significance; requires 2 nucleotide substitutions; dbSNP:rs58976397 | |
VAR_003873 | 193 | N>K | in EBS2A and EBS2C; dbSNP:rs60586163 | |
VAR_086640 | 198 | T>S | in EBS2C; uncertain significance; dbSNP:rs267607435 | |
VAR_086641 | 199 | K>M | in EBS2C; uncertain significance; dbSNP:rs58766676 | |
VAR_026539 | 199 | K>T | in EBS2C; dbSNP:rs58766676 | |
VAR_026540 | 311 | L>P | in EBS2C; dbSNP:rs59864957 | |
VAR_071632 | 321 | T>P | in EBS2C; dbSNP:rs1938635857 | |
VAR_086643 | 323 | V>G | in EBS2C | |
VAR_026541 | 324 | V>D | in EBS2C; dbSNP:rs59335325 | |
VAR_086644 | 325 | L>F | in EBS2C | |
VAR_010462 | 327 | M>K | in EBS2C; dbSNP:rs58072617 | |
VAR_003874 | 327 | M>T | in EBS2C; dbSNP:rs58072617 | |
VAR_026542 | 328 | D>E | in EBS2C; dbSNP:rs59464425 | |
VAR_026543 | 328 | D>G | in EBS2C; dbSNP:rs57142010 | |
VAR_010463 | 328 | D>H | in EBS2C; dbSNP:rs56790237 | |
VAR_010464 | 328 | D>V | in EBS2C; dbSNP:rs57142010 | |
VAR_010465 | 329 | N>K | in EBS2C; dbSNP:rs59730172 | |
VAR_003875 | 331 | R>C | in EBS2C; dbSNP:rs61297109 | |
VAR_027725 | 331 | R>H | in EBS2C; dbSNP:rs56729325 | |
VAR_031644 | 352 | R>S | in EBS2C; dbSNP:rs59112594 | |
VAR_023726 | 404 | K>E | in EBS2C; uncertain significance; dbSNP:rs60809982 | |
VAR_086646 | 428 | A>D | in EBS2C | |
VAR_071633 | 428 | A>T | in EBS2C; dbSNP:rs267607458 | |
VAR_023727 | 438 | A>D | in EBS2C and EBS2B; uncertain significance; dbSNP:rs57845028 | |
VAR_086647 | 443 | K>N | in EBS2C; uncertain significance; dbSNP:rs267607453 | |
VAR_086651 | 471 | R>H | in EBS2C; uncertain significance; dbSNP:rs895084041 | |
VAR_086652 | 476 | G>D | in EBS2C; uncertain significance; dbSNP:rs56922686 |
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period.
- See alsoMIM:619599
Natural variants in EBS2D
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086631 | 158 | D>N | in EBS2D; uncertain significance; dbSNP:rs763608512 | |
VAR_026537 | 170 | E>K | in EBS2C, EBS2B and EBS2D; dbSNP:rs59115483 | |
VAR_086638 | 183 | I>T | in EBS2D; dbSNP:rs267607661 | |
VAR_086645 | 418 | E>K | in EBS2D; dbSNP:rs121912476 |
Epidermolysis bullosa simplex 2E, with migratory circinate erythema (EBS2E)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern.
- See alsoMIM:609352
Epidermolysis bullosa simplex 2F, with mottled pigmentation (EBS2F)
- Note
- DescriptionA form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time.
- See alsoMIM:131960
Natural variants in EBS2F
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_010453 | 25 | P>L | in EBS2F; dbSNP:rs57499817 |
Dowling-Degos disease 1 (DDD1)
- Note
- 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.
- See alsoMIM:179850
Natural variants in DDD1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086623 | 5-590 | missing | in DDD1 | |
VAR_086632 | 159 | P>L | in DDD1; uncertain significance |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_086623 | 5-590 | in DDD1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_010453 | 25 | in EBS2F; dbSNP:rs57499817 | |||
Sequence: P → L | ||||||
Natural variant | VAR_028763 | 79 | in dbSNP:rs1065115 | |||
Sequence: S → R | ||||||
Natural variant | VAR_003871 | 138 | in dbSNP:rs11170164 | |||
Sequence: G → E | ||||||
Natural variant | VAR_086624 | 143 | in EBS2B; dbSNP:rs59851104 | |||
Sequence: V → A | ||||||
Natural variant | VAR_031640 | 143 | in EBS2B; dbSNP:rs59851104 | |||
Sequence: V → D | ||||||
Natural variant | VAR_086625 | 143 | found in a patient with EBS with an unspecified subtype; likely pathogenic; dbSNP:rs267607439 | |||
Sequence: V → F | ||||||
Natural variant | VAR_086626 | 144-145 | in EBS2A; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_086627 | 146 | in EBS2C; uncertain significance | |||
Sequence: N → Y | ||||||
Natural variant | VAR_086628 | 149 | in EBS2C; uncertain significance; dbSNP:rs267607449 | |||
Sequence: L → P | ||||||
Natural variant | VAR_086629 | 150 | in EBS2B; uncertain significance; dbSNP:rs62635291 | |||
Sequence: L → P | ||||||
Natural variant | VAR_086630 | 151 | in EBS2C; uncertain significance; dbSNP:rs267607450 | |||
Sequence: T → P | ||||||
Natural variant | VAR_010454 | 152 | in EBS2C; dbSNP:rs60617604 | |||
Sequence: P → L | ||||||
Natural variant | VAR_086631 | 158 | in EBS2D; uncertain significance; dbSNP:rs763608512 | |||
Sequence: D → N | ||||||
Natural variant | VAR_031641 | 158 | in EBS2C; uncertain significance; dbSNP:rs61222761 | |||
Sequence: D → V | ||||||
Natural variant | VAR_086632 | 159 | in DDD1; uncertain significance | |||
Sequence: P → L | ||||||
Natural variant | VAR_003872 | 161 | in EBS2C; dbSNP:rs58058996 | |||
Sequence: I → S | ||||||
Natural variant | VAR_071630 | 165 | in EBS2A; dbSNP:rs267607456 | |||
Sequence: R → S | ||||||
Natural variant | VAR_026536 | 167 | in EBS2C; dbSNP:rs57378129 | |||
Sequence: E → K | ||||||
Natural variant | VAR_086633 | 168 | in EBS2B; uncertain significance | |||
Sequence: E → D | ||||||
Natural variant | VAR_027722 | 168 | in EBS2A; dbSNP:rs58619430 | |||
Sequence: E → K | ||||||
Natural variant | VAR_027723 | 169 | in EBS2A; dbSNP:rs60720877 | |||
Sequence: R → P | ||||||
Natural variant | VAR_086634 | 170 | in EBS2C; uncertain significance; dbSNP:rs57408864 | |||
Sequence: E → G | ||||||
Natural variant | VAR_026537 | 170 | in EBS2C, EBS2B and EBS2D; dbSNP:rs59115483 | |||
Sequence: E → K | ||||||
Natural variant | VAR_010455 | 173 | in EBS2B; dbSNP:rs58163069 | |||
Sequence: K → N | ||||||
Natural variant | VAR_010456 | 175 | in EBS2A; dbSNP:rs57890479 | |||
Sequence: L → F | ||||||
Natural variant | VAR_010457 | 176 | in EBS2A; dbSNP:rs59092197 | |||
Sequence: N → S | ||||||
Natural variant | VAR_026538 | 177 | in EBS2C; dbSNP:rs61495052 | |||
Sequence: N → S | ||||||
Natural variant | VAR_010458 | 179 | in EBS2A; dbSNP:rs57781042 | |||
Sequence: F → S | ||||||
Natural variant | VAR_086635 | 180 | in EBS2B; dbSNP:rs58480900 | |||
Sequence: A → D | ||||||
Natural variant | VAR_086636 | 180 | in EBS2A; uncertain significance; dbSNP:rs267607451 | |||
Sequence: A → P | ||||||
Natural variant | VAR_010459 | 181 | in EBS2A; with laryngeal involvement; dbSNP:rs60715293 | |||
Sequence: S → P | ||||||
Natural variant | VAR_086637 | 183 | in EBS2A; uncertain significance; dbSNP:rs267607443 | |||
Sequence: I → M | ||||||
Natural variant | VAR_086638 | 183 | in EBS2D; dbSNP:rs267607661 | |||
Sequence: I → T | ||||||
Natural variant | VAR_071631 | 186 | in EBS2C; dbSNP:rs267607457 | |||
Sequence: V → E | ||||||
Natural variant | VAR_013829 | 186 | in EBS2B; dbSNP:rs121912475 | |||
Sequence: V → L | ||||||
Natural variant | VAR_031642 | 186 | in EBS2B; uncertain significance; dbSNP:rs121912475 | |||
Sequence: V → M | ||||||
Natural variant | VAR_086639 | 187 | in EBS2C; uncertain significance; dbSNP:rs267607452 | |||
Sequence: R → P | ||||||
Natural variant | VAR_027724 | 190 | in EBS2C; uncertain significance; also found in a patient with epidermolysis bullosa simplex with unspecified subtype; uncertain significance; requires 2 nucleotide substitutions; dbSNP:rs58976397 | |||
Sequence: E → K | ||||||
Natural variant | VAR_031643 | 191 | in EBS2B and EBS2A; uncertain significance; dbSNP:rs57751134 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_003873 | 193 | in EBS2A and EBS2C; dbSNP:rs60586163 | |||
Sequence: N → K | ||||||
Natural variant | VAR_028764 | 197 | in dbSNP:rs641615 | |||
Sequence: D → E | ||||||
Natural variant | VAR_086640 | 198 | in EBS2C; uncertain significance; dbSNP:rs267607435 | |||
Sequence: T → S | ||||||
Natural variant | VAR_086641 | 199 | in EBS2C; uncertain significance; dbSNP:rs58766676 | |||
Sequence: K → M | ||||||
Natural variant | VAR_026539 | 199 | in EBS2C; dbSNP:rs58766676 | |||
Sequence: K → T | ||||||
Natural variant | VAR_086642 | 203 | found in a patient with epidermolysis bullosa simplex with unspecified subtype; uncertain significance | |||
Sequence: L → M | ||||||
Natural variant | VAR_028765 | 232 | in dbSNP:rs200333163 | |||
Sequence: S → N | ||||||
Natural variant | VAR_026540 | 311 | in EBS2C; dbSNP:rs59864957 | |||
Sequence: L → P | ||||||
Natural variant | VAR_071632 | 321 | in EBS2C; dbSNP:rs1938635857 | |||
Sequence: T → P | ||||||
Natural variant | VAR_010460 | 323 | in EBS2B; dbSNP:rs59840738 | |||
Sequence: V → A | ||||||
Natural variant | VAR_086643 | 323 | in EBS2C | |||
Sequence: V → G | ||||||
Natural variant | VAR_026541 | 324 | in EBS2C; dbSNP:rs59335325 | |||
Sequence: V → D | ||||||
Natural variant | VAR_086644 | 325 | in EBS2C | |||
Sequence: L → F | ||||||
Natural variant | VAR_010461 | 325 | in EBS2B; dbSNP:rs58107458 | |||
Sequence: L → P | ||||||
Natural variant | VAR_010462 | 327 | in EBS2C; dbSNP:rs58072617 | |||
Sequence: M → K | ||||||
Natural variant | VAR_003874 | 327 | in EBS2C; dbSNP:rs58072617 | |||
Sequence: M → T | ||||||
Natural variant | VAR_026542 | 328 | in EBS2C; dbSNP:rs59464425 | |||
Sequence: D → E | ||||||
Natural variant | VAR_026543 | 328 | in EBS2C; dbSNP:rs57142010 | |||
Sequence: D → G | ||||||
Natural variant | VAR_010463 | 328 | in EBS2C; dbSNP:rs56790237 | |||
Sequence: D → H | ||||||
Natural variant | VAR_010464 | 328 | in EBS2C; dbSNP:rs57142010 | |||
Sequence: D → V | ||||||
Natural variant | VAR_010465 | 329 | in EBS2C; dbSNP:rs59730172 | |||
Sequence: N → K | ||||||
Natural variant | VAR_003875 | 331 | in EBS2C; dbSNP:rs61297109 | |||
Sequence: R → C | ||||||
Natural variant | VAR_027725 | 331 | in EBS2C; dbSNP:rs56729325 | |||
Sequence: R → H | ||||||
Natural variant | VAR_031644 | 352 | in EBS2C; dbSNP:rs59112594 | |||
Sequence: R → S | ||||||
Natural variant | VAR_028766 | 387 | in dbSNP:rs2669875 | |||
Sequence: S → T | ||||||
Mutagenesis | 399 | Increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with short filaments. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_023726 | 404 | in EBS2C; uncertain significance; dbSNP:rs60809982 | |||
Sequence: K → E | ||||||
Mutagenesis | 411 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: Q → A | ||||||
Mutagenesis | 412 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: N → A | ||||||
Natural variant | VAR_086645 | 418 | in EBS2D; dbSNP:rs121912476 | |||
Sequence: E → K | ||||||
Mutagenesis | 422 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_086646 | 428 | in EBS2C | |||
Sequence: A → D | ||||||
Natural variant | VAR_071633 | 428 | in EBS2C; dbSNP:rs267607458 | |||
Sequence: A → T | ||||||
Mutagenesis | 437 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: E → A | ||||||
Natural variant | VAR_023727 | 438 | in EBS2C and EBS2B; uncertain significance; dbSNP:rs57845028 | |||
Sequence: A → D | ||||||
Mutagenesis | 440 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: Q → A | ||||||
Natural variant | VAR_086647 | 443 | in EBS2C; uncertain significance; dbSNP:rs267607453 | |||
Sequence: K → N | ||||||
Mutagenesis | 444 | No effect on interaction with KRT14 or keratin intermediate filament networks. | ||||
Sequence: Q → A | ||||||
Natural variant | VAR_003876 | 463 | in EBS2B; dbSNP:rs57599352 | |||
Sequence: L → P | ||||||
Natural variant | VAR_086648 | 466 | in EBS2B; uncertain significance; dbSNP:rs62642056 | |||
Sequence: E → D | ||||||
Natural variant | VAR_086649 | 467 | in EBS2A;; dbSNP:rs60062350 | |||
Sequence: I → M | ||||||
Natural variant | VAR_010466 | 467 | in EBS2A; dbSNP:rs60271599 | |||
Sequence: I → T | ||||||
Natural variant | VAR_027726 | 469 | in EBS2A; dbSNP:rs60596287 | |||
Sequence: T → P | ||||||
Natural variant | VAR_086650 | 470-590 | found in a patient with EBS with an unspecified subtype; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_086651 | 471 | in EBS2C; uncertain significance; dbSNP:rs895084041 | |||
Sequence: R → H | ||||||
Natural variant | VAR_003877 | 475 | in EBS2A; dbSNP:rs61348633 | |||
Sequence: E → G | ||||||
Natural variant | VAR_023728 | 475 | in EBS2B; dbSNP:rs57155193 | |||
Sequence: E → K | ||||||
Natural variant | VAR_086652 | 476 | in EBS2C; uncertain significance; dbSNP:rs56922686 | |||
Sequence: G → D | ||||||
Natural variant | VAR_086653 | 477 | found in a patient with epidermolysis bullosa simplex with unspecified subtype; uncertain significance; dbSNP:rs58319159 | |||
Sequence: E → G | ||||||
Natural variant | VAR_010467 | 477 | in EBS2A; dbSNP:rs59190510 | |||
Sequence: E → K | ||||||
Natural variant | VAR_086654 | 478 | in EBS2A; uncertain significance; dbSNP:rs267607438 | |||
Sequence: E → K | ||||||
Natural variant | VAR_031645 | 517 | in EBS2B; dbSNP:rs58608695 | |||
Sequence: G → D | ||||||
Natural variant | VAR_028767 | 528 | in dbSNP:rs11549950 | |||
Sequence: S → G | ||||||
Natural variant | VAR_028768 | 543 | in dbSNP:rs11549949 | |||
Sequence: G → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 867 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
Protein family/group databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000063727 | 1-590 | Keratin, type II cytoskeletal 5 | |||
Sequence: MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGYGSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS | ||||||
Modified residue | 5 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 8 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 16 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 21 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 24 | Phosphothreonine; by CDK1 | ||||
Sequence: T | ||||||
Modified residue | 26 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 36 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 50 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 64 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 71 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 75 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 82 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 151 | Phosphothreonine; by CDK1 | ||||
Sequence: T |
Post-translational modification
Phosphorylated by CDK1, AURKB and Rho-kinase, phosphorylation is regulated by the cell cycle (By similarity).
Thr-24 phosphorylation, mediated by CDK1, peaks during prometaphase or metaphase cells with phosphorylated filamentous structures evident throughout the cytoplasm during early mitosis (By similarity).
CDK1 phosphorylates Thr-24 in mitotic cells at the site of injury (By similarity).
Thr-24 phosphorylation, mediated by CDK1, peaks during prometaphase or metaphase cells with phosphorylated filamentous structures evident throughout the cytoplasm during early mitosis (By similarity).
CDK1 phosphorylates Thr-24 in mitotic cells at the site of injury (By similarity).
O-glycosylated.
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Heterodimer of a type I and a type II keratin (PubMed:22705788, PubMed:31995743).
Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network (PubMed:28899683).
Forms a heterodimer (via 2B domains) with KRT14 (via 2B domains) (PubMed:22705788, PubMed:24940650, PubMed:31995743).
Interacts with PLEC isoform 1C, when in a heterodimer with KRT14 (PubMed:24940650).
Interacts with TCHP (PubMed:15731013).
Interacts with EPPK1 (By similarity).
Interacts with AMELX (By similarity).
Interacts with PKP1 (via N-terminus) and PKP2 (PubMed:10852826).
Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network (PubMed:28899683).
Forms a heterodimer (via 2B domains) with KRT14 (via 2B domains) (PubMed:22705788, PubMed:24940650, PubMed:31995743).
Interacts with PLEC isoform 1C, when in a heterodimer with KRT14 (PubMed:24940650).
Interacts with TCHP (PubMed:15731013).
Interacts with EPPK1 (By similarity).
Interacts with AMELX (By similarity).
Interacts with PKP1 (via N-terminus) and PKP2 (PubMed:10852826).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P13647 | ALOX12 P18054 | 7 | EBI-702187, EBI-1633210 | |
BINARY | P13647 | INCA1 Q0VD86 | 3 | EBI-702187, EBI-6509505 | |
BINARY | P13647 | KIFC3 Q9BVG8 | 3 | EBI-702187, EBI-2125614 | |
BINARY | P13647 | KIFC3 Q9BVG8-5 | 3 | EBI-702187, EBI-14069005 | |
BINARY | P13647 | KRT14 P02533 | 8 | EBI-702187, EBI-702178 | |
BINARY | P13647 | KRT15 P19012 | 6 | EBI-702187, EBI-739566 | |
BINARY | P13647 | KRT16 P08779 | 3 | EBI-702187, EBI-356410 | |
BINARY | P13647 | KRT19 P08727 | 3 | EBI-702187, EBI-742756 | |
BINARY | P13647 | KRT24 Q2M2I5 | 3 | EBI-702187, EBI-2952736 | |
BINARY | P13647 | KRT25 Q7Z3Z0 | 3 | EBI-702187, EBI-11980019 | |
BINARY | P13647 | KRT27 Q7Z3Y8 | 3 | EBI-702187, EBI-3044087 | |
BINARY | P13647 | KRT28 Q7Z3Y7 | 3 | EBI-702187, EBI-11980489 | |
BINARY | P13647 | KRT31 Q15323 | 6 | EBI-702187, EBI-948001 | |
BINARY | P13647 | KRT35 Q92764 | 3 | EBI-702187, EBI-1058674 | |
BINARY | P13647 | KRT38 O76015 | 6 | EBI-702187, EBI-1047263 | |
BINARY | P13647 | KRT40 Q6A162 | 6 | EBI-702187, EBI-10171697 | |
BINARY | P13647 | PKP1 Q13835-2 | 2 | EBI-702187, EBI-9087684 | |
BINARY | P13647 | TRIM29 Q14134 | 2 | EBI-702187, EBI-702370 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-20 | Disordered | ||||
Sequence: MSRQSSVSFRSGGSRSFSTA | ||||||
Region | 1-167 | Head | ||||
Sequence: MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGYGSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTE | ||||||
Region | 168-203 | Coil 1A | ||||
Sequence: EREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLL | ||||||
Domain | 168-481 | IF rod | ||||
Sequence: EREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRL | ||||||
Region | 204-222 | Linker 1 | ||||
Sequence: QEQGTKTVRQNLEPLFEQY | ||||||
Region | 223-315 | Coil 1B | ||||
Sequence: INNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQ | ||||||
Region | 316-338 | Linker 12 | ||||
Sequence: THVSDTSVVLSMDNNRNLDLDSI | ||||||
Region | 339-477 | Coil 2 | ||||
Sequence: IAEVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGE | ||||||
Region | 478-590 | Tail | ||||
Sequence: ECRLSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS | ||||||
Region | 566-590 | Disordered | ||||
Sequence: GSGGGSSSSVKFVSTTSSSRKSFKS | ||||||
Compositional bias | 567-590 | Polar residues | ||||
Sequence: SGGGSSSSVKFVSTTSSSRKSFKS |
Sequence similarities
Belongs to the intermediate filament family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length590
- Mass (Da)62,378
- Last updated2007-04-03 v3
- ChecksumE9D5318E01F55145
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 9-11 | in Ref. 2 | ||||
Sequence: FRS → SGA | ||||||
Sequence conflict | 261 | in Ref. 5; AAA36145 | ||||
Sequence: E → Q | ||||||
Sequence conflict | 271 | in Ref. 5; AAA36145 | ||||
Sequence: E → H | ||||||
Sequence conflict | 375 | in Ref. 7 | ||||
Sequence: H → E | ||||||
Sequence conflict | 558 | in Ref. 2 and 5; AAA36145 | ||||
Sequence: G → S | ||||||
Compositional bias | 567-590 | Polar residues | ||||
Sequence: SGGGSSSSVKFVSTTSSSRKSFKS |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M21389 EMBL· GenBank· DDBJ | AAA36143.1 EMBL· GenBank· DDBJ | mRNA | ||
M28496 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AF274874 EMBL· GenBank· DDBJ | AAF97931.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC024292 EMBL· GenBank· DDBJ | AAH24292.1 EMBL· GenBank· DDBJ | mRNA | ||
BC042132 EMBL· GenBank· DDBJ | AAH42132.1 EMBL· GenBank· DDBJ | mRNA | ||
BC071906 EMBL· GenBank· DDBJ | AAH71906.1 EMBL· GenBank· DDBJ | mRNA | ||
M19723 EMBL· GenBank· DDBJ | AAA36145.1 EMBL· GenBank· DDBJ | mRNA | ||
AY373434 EMBL· GenBank· DDBJ | AAQ81588.1 EMBL· GenBank· DDBJ | mRNA |