P04264 · K2C1_HUMAN
- ProteinKeratin, type II cytoskeletal 1
- GeneKRT1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids644 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.
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 | 433 | Stutter | |||
GO annotations
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameKeratin, type II cytoskeletal 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP04264
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Epidermolytic hyperkeratosis 1 (EHK1)
- Note
- DescriptionA skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK1 inheritance is autosomal dominant or autosomal recessive.
- See alsoMIM:113800
Natural variants in EHK1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017820 | 155 | V>D | in EHK1; dbSNP:rs57959072 | |
VAR_003853 | 155 | V>G | in EHK1; dbSNP:rs57959072 | |
VAR_003854 | 161 | L>P | in EHK1; dbSNP:rs57695159 | |
VAR_003855 | 186 | S>P | in EHK1; dbSNP:rs60022878 | |
VAR_017821 | 188 | N>K | in EHK1; dbSNP:rs59429455 | |
VAR_003856 | 188 | N>S | in EHK1; dbSNP:rs58928370 | |
VAR_017822 | 188 | N>T | in EHK1; severe; dbSNP:rs58928370 | |
VAR_003857 | 193 | S>P | in EHK1; dbSNP:rs60937700 | |
VAR_017823 | 214 | L>P | in EHK1; dbSNP:rs61549035 | |
VAR_017824 | 340 | D>V | in EHK1; dbSNP:rs58062863 | |
VAR_071986 | 478 | E>Q | in EHK1; dbSNP:rs59089201 | |
VAR_017826 | 479 | I>T | in AEI2 and EHK1; dbSNP:rs57837128 | |
VAR_017827 | 482 | Y>C | in EHK1; dbSNP:rs58420087 | |
VAR_071987 | 485 | L>P | in EHK1; dbSNP:rs267607430 | |
VAR_017828 | 486 | L>P | in EHK1; dbSNP:rs56914602 | |
VAR_071988 | 490 | E>K | in EHK1; dbSNP:rs60279707 | |
VAR_003861 | 490 | E>Q | in EHK1; dbSNP:rs60279707 |
Ichthyosis hystrix, Curth-Macklin type (IHCM)
- Note
- DescriptionA genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.
- See alsoMIM:146590
Keratoderma, palmoplantar, non-epidermolytic (NEPPK)
- Note
- DescriptionA dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.
- See alsoMIM:600962
Natural variants in NEPPK
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017819 | 74 | K>I | in NEPPK; dbSNP:rs57977969 |
Ichthyosis, annular epidermolytic, 2 (AEI2)
- Note
- DescriptionA form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma.
- See alsoMIM:620148
Natural variants in AEI2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017825 | 479 | I>F | in AEI2; dbSNP:rs61218439 | |
VAR_017826 | 479 | I>T | in AEI2 and EHK1; dbSNP:rs57837128 |
Keratoderma, palmoplantar, striate 3 (SPPK3)
- Note
- DescriptionA dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal.
- See alsoMIM:607654
Palmoplantar keratoderma, epidermolytic, 2 (EPPK2)
- Note
- DescriptionA form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood.
- See alsoMIM:620411
Natural variants in EPPK2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088636 | 436 | A>D | in EPPK2; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Natural variant | VAR_017819 | 74 | in NEPPK; dbSNP:rs57977969 | ||
Natural variant | VAR_017820 | 155 | in EHK1; dbSNP:rs57959072 | ||
Natural variant | VAR_003853 | 155 | in EHK1; dbSNP:rs57959072 | ||
Natural variant | VAR_003854 | 161 | in EHK1; dbSNP:rs57695159 | ||
Natural variant | VAR_038627 | 176-197 | in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas | ||
Natural variant | VAR_003855 | 186 | in EHK1; dbSNP:rs60022878 | ||
Natural variant | VAR_017821 | 188 | in EHK1; dbSNP:rs59429455 | ||
Natural variant | VAR_003856 | 188 | in EHK1; dbSNP:rs58928370 | ||
Natural variant | VAR_017822 | 188 | in EHK1; severe; dbSNP:rs58928370 | ||
Natural variant | VAR_003857 | 193 | in EHK1; dbSNP:rs60937700 | ||
Natural variant | VAR_017823 | 214 | in EHK1; dbSNP:rs61549035 | ||
Natural variant | VAR_003858 | 312 | |||
Natural variant | VAR_003859 | 330 | |||
Natural variant | VAR_017824 | 340 | in EHK1; dbSNP:rs58062863 | ||
Natural variant | VAR_003860 | 358 | in dbSNP:rs1050872 | ||
Natural variant | VAR_088636 | 436 | in EPPK2; uncertain significance | ||
Natural variant | VAR_038628 | 454 | in dbSNP:rs17678945 | ||
Natural variant | VAR_038629 | 459-466 | in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas | ||
Natural variant | VAR_071986 | 478 | in EHK1; dbSNP:rs59089201 | ||
Natural variant | VAR_017825 | 479 | in AEI2; dbSNP:rs61218439 | ||
Natural variant | VAR_017826 | 479 | in AEI2 and EHK1; dbSNP:rs57837128 | ||
Natural variant | VAR_017827 | 482 | in EHK1; dbSNP:rs58420087 | ||
Natural variant | VAR_071987 | 485 | in EHK1; dbSNP:rs267607430 | ||
Natural variant | VAR_017828 | 486 | in EHK1; dbSNP:rs56914602 | ||
Natural variant | VAR_071988 | 490 | in EHK1; dbSNP:rs60279707 | ||
Natural variant | VAR_003861 | 490 | in EHK1; dbSNP:rs60279707 | ||
Natural variant | VAR_003862 | 537 | |||
Natural variant | VAR_003864 | 560-566 | in allele 1B | ||
Natural variant | VAR_003863 | 633 | in dbSNP:rs14024 | ||
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
Expression
Tissue specificity
The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.
Induction
Repressed in keratinocytes by all-trans retinoic acid (ATRA), via reduction of mRNA stability.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Heterotetramer of two type I and two type II keratins (PubMed:24940650, PubMed:27595935).
Heterodimer with KRT10 (PubMed:24940650, PubMed:27595935).
Two heterodimers of KRT1 and KRT10 form a heterotetramer (PubMed:27595935).
Forms a heterodimer with KRT14; the interaction is more abundant in the absence of KRT5 (By similarity).
Interacts with PLEC isoform 1C, when in a heterodimer with KRT10 (PubMed:24940650).
Interacts with ITGB1 in the presence of RACK1 and SRC, and with RACK1 (PubMed:17956333).
Interacts with C1QBP; the association represents a cell surface kininogen receptor (PubMed:21544310).
Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132).
Heterodimer with KRT10 (PubMed:24940650, PubMed:27595935).
Two heterodimers of KRT1 and KRT10 form a heterotetramer (PubMed:27595935).
Forms a heterodimer with KRT14; the interaction is more abundant in the absence of KRT5 (By similarity).
Interacts with PLEC isoform 1C, when in a heterodimer with KRT10 (PubMed:24940650).
Interacts with ITGB1 in the presence of RACK1 and SRC, and with RACK1 (PubMed:17956333).
Interacts with C1QBP; the association represents a cell surface kininogen receptor (PubMed:21544310).
Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132).
Binary interactions
Complex viewer
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Region | 2-179 | Head | |||
Region | 22-47 | Disordered | |||
Region | 180-215 | Coil 1A | |||
Domain | 180-493 | IF rod | |||
Region | 216-234 | Linker 1 | |||
Region | 235-326 | Coil 1B | |||
Region | 327-350 | Linker 12 | |||
Region | 351-489 | Coil 2 | |||
Region | 489-523 | Disordered | |||
Region | 490-644 | Tail | |||
Region | 568-644 | Disordered | |||
Compositional bias | 632-644 | Polar residues | |||
Sequence similarities
Belongs to the intermediate filament family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length644
- Mass (Da)66,039
- Last updated2009-05-26 v6
- MD5 ChecksumFE9B210097FBD660E88B933CC05E6E2A
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Sequence conflict | 201 | in Ref. 9; AAA36153 | |||
Sequence conflict | 206 | in Ref. 9; AAA36153 | |||
Sequence conflict | 238 | in Ref. 9; AAA36153 | |||
Sequence conflict | 344-345 | in Ref. 9; AAA36153 | |||
Sequence conflict | 403 | in Ref. 4; BAG36698 | |||
Sequence conflict | 404 | in Ref. 9; AAA36153 | |||
Sequence conflict | 447 | in Ref. 9; AAA36153 | |||
Sequence conflict | 463 | in Ref. 9; AAA36153 | |||
Sequence conflict | 466 | in Ref. 9; AAA36153 | |||
Sequence conflict | 504 | in Ref. 9; AAA36153 | |||
Sequence conflict | 511-512 | in Ref. 9; AAA36153 | |||
Sequence conflict | 564 | in Ref. 9; AAA36153 | |||
Sequence conflict | 613 | in Ref. 9; AAA36153 | |||
Compositional bias | 632-644 | Polar residues | |||
Sequence conflict | 638 | in Ref. 9; AAA36153 | |||
Polymorphism
There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M98776 EMBL· GenBank· DDBJ | AAB47721.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF237621 EMBL· GenBank· DDBJ | AAF60327.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF304164 EMBL· GenBank· DDBJ | AAG41947.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK313986 EMBL· GenBank· DDBJ | BAG36698.1 EMBL· GenBank· DDBJ | mRNA | ||
AC055716 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC063697 EMBL· GenBank· DDBJ | AAH63697.1 EMBL· GenBank· DDBJ | mRNA | ||
M10938 EMBL· GenBank· DDBJ | AAA36153.1 EMBL· GenBank· DDBJ | mRNA |