P04264 · K2C1_HUMAN

  • Protein
    Keratin, type II cytoskeletal 1
  • Gene
    KRT1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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).

Caution

A peptide corresponding to residues 278 to 289 was isolated as part of plant proteomics studies and was originally thought to be of plant origin (PubMed:16529377, PubMed:18602030, PubMed:19412582).
However, it was later shown that it is likely to be human type II keratin, a common contaminant in proteomic analyzes (PubMed:23895828).

Features

Showing features for site.

164450100150200250300350400450500550600
TypeIDPosition(s)Description
Site433Stutter

GO annotations

AspectTerm
Cellular Componentblood microparticle
Cellular Componentcollagen-containing extracellular matrix
Cellular Componentcornified envelope
Cellular Componentcytoplasm
Cellular Componentcytoskeleton
Cellular Componentcytosol
Cellular Componentextracellular exosome
Cellular Componentextracellular region
Cellular Componentextracellular space
Cellular Componentficolin-1-rich granule lumen
Cellular Componentkeratin filament
Cellular Componentmembrane
Cellular Componentnucleus
Molecular Functioncarbohydrate binding
Molecular Functionprotein heterodimerization activity
Molecular Functionsignaling receptor activity
Molecular Functionstructural constituent of skin epidermis
Biological Processcomplement activation, lectin pathway
Biological Processestablishment of skin barrier
Biological Processfibrinolysis
Biological Processintermediate filament organization
Biological Processkeratinization
Biological Processnegative regulation of inflammatory response
Biological Processpeptide cross-linking
Biological Processprotein heterotetramerization
Biological Processregulation of angiogenesis
Biological Processresponse to oxidative stress

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Keratin, type II cytoskeletal 1
  • Alternative names
    • 67 kDa cytokeratin
    • Cytokeratin-1 (CK-1)
    • Hair alpha protein
    • Keratin-1 (K1)
    • Type-II keratin Kb1

Gene names

    • Name
      KRT1
    • Synonyms
      KRTA

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P04264
  • Secondary accessions
    • B2RA01
    • P85925
    • P86104
    • Q14720
    • Q6GSJ0
    • Q9H298

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Epidermolytic hyperkeratosis 1 (EHK1)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:113800
Natural variants in EHK1
Variant IDPosition(s)ChangeDescription
VAR_017820155V>Din EHK1; dbSNP:rs57959072
VAR_003853155V>Gin EHK1; dbSNP:rs57959072
VAR_003854161L>Pin EHK1; dbSNP:rs57695159
VAR_003855186S>Pin EHK1; dbSNP:rs60022878
VAR_017821188N>Kin EHK1; dbSNP:rs59429455
VAR_003856188N>Sin EHK1; dbSNP:rs58928370
VAR_017822188N>Tin EHK1; severe; dbSNP:rs58928370
VAR_003857193S>Pin EHK1; dbSNP:rs60937700
VAR_017823214L>Pin EHK1; dbSNP:rs61549035
VAR_017824340D>Vin EHK1; dbSNP:rs58062863
VAR_071986478E>Qin EHK1; dbSNP:rs59089201
VAR_017826479I>Tin AEI2 and EHK1; dbSNP:rs57837128
VAR_017827482Y>Cin EHK1; dbSNP:rs58420087
VAR_071987485L>Pin EHK1; dbSNP:rs267607430
VAR_017828486L>Pin EHK1; dbSNP:rs56914602
VAR_071988490E>Kin EHK1; dbSNP:rs60279707
VAR_003861490E>Qin EHK1; dbSNP:rs60279707

Ichthyosis hystrix, Curth-Macklin type (IHCM)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:146590

Keratoderma, palmoplantar, non-epidermolytic (NEPPK)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:600962
Natural variants in NEPPK
Variant IDPosition(s)ChangeDescription
VAR_01781974K>Iin NEPPK; dbSNP:rs57977969

Ichthyosis, annular epidermolytic, 2 (AEI2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:620148
Natural variants in AEI2
Variant IDPosition(s)ChangeDescription
VAR_017825479I>Fin AEI2; dbSNP:rs61218439
VAR_017826479I>Tin AEI2 and EHK1; dbSNP:rs57837128

Keratoderma, palmoplantar, striate 3 (SPPK3)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:607654

Palmoplantar keratoderma, epidermolytic, 2 (EPPK2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:620411
Natural variants in EPPK2
Variant IDPosition(s)ChangeDescription
VAR_088636436A>Din EPPK2; uncertain significance

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_01781974in NEPPK; dbSNP:rs57977969
Natural variantVAR_017820155in EHK1; dbSNP:rs57959072
Natural variantVAR_003853155in EHK1; dbSNP:rs57959072
Natural variantVAR_003854161in EHK1; dbSNP:rs57695159
Natural variantVAR_038627176-197in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas
Natural variantVAR_003855186in EHK1; dbSNP:rs60022878
Natural variantVAR_017821188in EHK1; dbSNP:rs59429455
Natural variantVAR_003856188in EHK1; dbSNP:rs58928370
Natural variantVAR_017822188in EHK1; severe; dbSNP:rs58928370
Natural variantVAR_003857193in EHK1; dbSNP:rs60937700
Natural variantVAR_017823214in EHK1; dbSNP:rs61549035
Natural variantVAR_003858312
Natural variantVAR_003859330
Natural variantVAR_017824340in EHK1; dbSNP:rs58062863
Natural variantVAR_003860358in dbSNP:rs1050872
Natural variantVAR_088636436in EPPK2; uncertain significance
Natural variantVAR_038628454in dbSNP:rs17678945
Natural variantVAR_038629459-466in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas
Natural variantVAR_071986478in EHK1; dbSNP:rs59089201
Natural variantVAR_017825479in AEI2; dbSNP:rs61218439
Natural variantVAR_017826479in AEI2 and EHK1; dbSNP:rs57837128
Natural variantVAR_017827482in EHK1; dbSNP:rs58420087
Natural variantVAR_071987485in EHK1; dbSNP:rs267607430
Natural variantVAR_017828486in EHK1; dbSNP:rs56914602
Natural variantVAR_071988490in EHK1; dbSNP:rs60279707
Natural variantVAR_003861490in EHK1; dbSNP:rs60279707
Natural variantVAR_003862537
Natural variantVAR_003864560-566in allele 1B
Natural variantVAR_003863633in dbSNP:rs14024

Keywords

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).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntAct
BINARY P04264AMOTL2 Q9Y2J43EBI-298429, EBI-746752
BINARY P04264FFAR2 O155523EBI-298429, EBI-2833872
BINARY P04264GOLGA2 Q083796EBI-298429, EBI-618309
BINARY P04264GOLGA6L9 A6NEM13EBI-298429, EBI-5916454
BINARY P04264HAUS1 Q96CS23EBI-298429, EBI-2514791
BINARY P04264HMG20A Q9NP663EBI-298429, EBI-740641
BINARY P04264HOOK2 Q96ED9-23EBI-298429, EBI-10961706
BINARY P04264KRT10 P136455EBI-298429, EBI-465144
BINARY P04264KRT13 P136463EBI-298429, EBI-1223876
BINARY P04264KRT14 P025333EBI-298429, EBI-702178
BINARY P04264KRT15 P190127EBI-298429, EBI-739566
BINARY P04264KRT16 P087793EBI-298429, EBI-356410
BINARY P04264KRT19 P087273EBI-298429, EBI-742756
BINARY P04264KRT24 Q2M2I53EBI-298429, EBI-2952736
BINARY P04264KRT25 Q7Z3Z03EBI-298429, EBI-11980019
BINARY P04264KRT26 Q7Z3Y93EBI-298429, EBI-12084444
BINARY P04264KRT27 Q7Z3Y83EBI-298429, EBI-3044087
BINARY P04264KRT28 Q7Z3Y75EBI-298429, EBI-11980489
BINARY P04264KRT31 Q153233EBI-298429, EBI-948001
BINARY P04264KRT33B Q145257EBI-298429, EBI-1049638
BINARY P04264KRT34 O760113EBI-298429, EBI-1047093
BINARY P04264KRT35 Q927643EBI-298429, EBI-1058674
BINARY P04264KRT36 O76013-23EBI-298429, EBI-11958506
BINARY P04264KRT37 O760143EBI-298429, EBI-1045716
BINARY P04264KRT38 O760153EBI-298429, EBI-1047263
BINARY P04264KRT39 Q6A1633EBI-298429, EBI-11958242
BINARY P04264MAP1LC3A Q9H4922EBI-298429, EBI-720768
BINARY P04264NUP62 P371987EBI-298429, EBI-347978
BINARY P04264RINT1 Q6NUQ13EBI-298429, EBI-726876
BINARY P04264SGTB Q96EQ03EBI-298429, EBI-744081
BINARY P04264TFIP11 Q9UBB93EBI-298429, EBI-1105213
BINARY P04264TLCD4 Q96MV13EBI-298429, EBI-12947623
BINARY P04264TRIM27 P143734EBI-298429, EBI-719493
BINARY P04264TRIM54 Q9BYV23EBI-298429, EBI-2130429
BINARY P04264U2AF1 Q010813EBI-298429, EBI-632461

Complex viewer

View interactors in UniProtKB
View CPX-5662 in Complex Portal

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, domain, compositional bias.

Type
IDPosition(s)Description
Region2-179Head
Region22-47Disordered
Region180-215Coil 1A
Domain180-493IF rod
Region216-234Linker 1
Region235-326Coil 1B
Region327-350Linker 12
Region351-489Coil 2
Region489-523Disordered
Region490-644Tail
Region568-644Disordered
Compositional bias632-644Polar residues

Sequence similarities

Belongs to the intermediate filament family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    644
  • Mass (Da)
    66,039
  • Last updated
    2009-05-26 v6
  • MD5 Checksum
    FE9B210097FBD660E88B933CC05E6E2A
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

Features

Showing features for sequence conflict, compositional bias.

Type
IDPosition(s)Description
Sequence conflict201in Ref. 9; AAA36153
Sequence conflict206in Ref. 9; AAA36153
Sequence conflict238in Ref. 9; AAA36153
Sequence conflict344-345in Ref. 9; AAA36153
Sequence conflict403in Ref. 4; BAG36698
Sequence conflict404in Ref. 9; AAA36153
Sequence conflict447in Ref. 9; AAA36153
Sequence conflict463in Ref. 9; AAA36153
Sequence conflict466in Ref. 9; AAA36153
Sequence conflict504in Ref. 9; AAA36153
Sequence conflict511-512in Ref. 9; AAA36153
Sequence conflict564in Ref. 9; AAA36153
Sequence conflict613in Ref. 9; AAA36153
Compositional bias632-644Polar residues
Sequence conflict638in 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

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

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. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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