≡

Cytokeratin 5 (CK5)

[Edit]

KRT5; DDD; EBS2; K5; KRT5A; KRT5-A; Keratin 5; 58 kDa cytokeratin; Type-II keratin Kb5; Epidermolysis Bullosa Simplex Dowling-Meara/Kobner/Weber-Cockayne Types

Cytokeratin 5 (CK5)
CCC A488
HGNC 6442
MGI 96702
PubMed 7534039
RGD 727894
UniProt P13647
Wiki Keratin_5

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic (i.e., different types of) keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. The type II cytokeratin genes are clustered in a region of chromosome 12q12-q13. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14.
Eckert and Rorke (1988) cloned full-length KRT5 from a cultured keratinocyte cDNA library. The deduced 590-amino acid protein contains a central alpha-helical core region of about 310 amino acids with a 7-amino acid repeat found in coiled-coil structures. The N and C termini are serine rich and contain gly-gly-gly-x motifs.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA488Hu01 Recombinant Cytokeratin 5 (CK5) Positive Control; Immunogen; SDS-PAGE; WB.
RPA488Hu02 Recombinant Cytokeratin 5 (CK5) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA488Hu01 Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IP.
MAA488Hu22 Monoclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IP.
LAA488Hu71 Biotin-Linked Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC.
LAA488Hu81 FITC-Linked Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IF.
PAA488Hu02 Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IP.
Assay Kits SEA488Hu ELISA Kit for Cytokeratin 5 (CK5) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA488Mu01 Recombinant Cytokeratin 5 (CK5) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA488Mu01 Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IP.
LAA488Mu71 Biotin-Linked Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC.
LAA488Mu81 FITC-Linked Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IF.
Assay Kits n/a CLIA Kit for Cytokeratin 5 (CK5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cytokeratin 5 (CK5) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA488Ra01 Recombinant Cytokeratin 5 (CK5) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA488Ra01 Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC; IP.
LAA488Ra71 Biotin-Linked Polyclonal Antibody to Cytokeratin 5 (CK5) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for Cytokeratin 5 (CK5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cytokeratin 5 (CK5) ELISA Kit Customized Service Offer
  1. "The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins."DNA 7:337-345(1988) [PubMed] [Europe PMC] [Abstract]
  2. "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control."Mol. Cell. Biol. 9:3685-3697(1989) [PubMed] [Europe PMC] [Abstract]
  3. "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5."Biochem. Biophys. Res. Commun. 274:149-152(2000) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Sequence and expression of a type II keratin, K5, in human epidermal cells."Mol. Cell. Biol. 8:486-493(1988) [PubMed] [Europe PMC] [Abstract]
  6. "A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex."Clin. Exp. Dermatol. 29:74-76(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin."J. Invest. Dermatol. 91:39-42(1988) [PubMed] [Europe PMC] [Abstract]
  8. "Identification of trichoplein, a novel keratin filament-binding protein."J. Cell Sci. 118:1081-1090(2005) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."Nat. Struct. Mol. Biol. 19:707-715(2012) [PubMed] [Europe PMC] [Abstract]
  12. "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering."Nature 356:244-246(1992) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex."Hum. Mutat. 2:94-102(1993) [PubMed] [Europe PMC] [Abstract]
  14. "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12."J. Invest. Dermatol. 100:735-741(1993) [PubMed] [Europe PMC] [Abstract]
  15. "Clustering of epidermolysis bullosa simplex mutations in relation to disease phenotype: data from Weber-Cockayne EBS."J. Invest. Dermatol. 101:481A-481A(1993)
  16. "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."Nat. Genet. 5:294-300(1993) [PubMed] [Europe PMC] [Abstract]
  17. "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex."Proc. Natl. Acad. Sci. U.S.A. 90:7414-7418(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex."J. Cell Sci. 107:765-774(1994) [PubMed] [Europe PMC] [Abstract]
  19. "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function."Am. J. Hum. Genet. 56:577-585(1995) [PubMed] [Europe PMC] [Abstract]
  20. "Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in linker 12 domain of keratin 5."Hum. Mol. Genet. 4:1999-2000(1995) [PubMed] [Europe PMC] [Abstract]
  21. "Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland."Hum. Mutat. 8:57-63(1996) [PubMed] [Europe PMC] [Abstract]
  22. "A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex."J. Invest. Dermatol. 107:253-254(1996) [PubMed] [Europe PMC] [Abstract]
  23. "The genetic basis of epidermolysis bullosa simplex with mottled pigmentation."Proc. Natl. Acad. Sci. U.S.A. 93:9079-9084(1996) [PubMed] [Europe PMC] [Abstract]
  24. "Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients."J. Invest. Dermatol. 108:349-353(1997) [PubMed] [Europe PMC] [Abstract]
  25. "A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara."J. Invest. Dermatol. 109:815-816(1997) [PubMed] [Europe PMC] [Abstract]
  26. "A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex."J. Invest. Dermatol. 111:524-527(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."J. Invest. Dermatol. 111:900-902(1998) [PubMed] [Europe PMC] [Abstract]
  28. "Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients."Am. J. Med. Genet. 86:376-379(1999) [PubMed] [Europe PMC] [Abstract]
  29. "Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
  30. "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."Br. J. Dermatol. 142:315-320(2000) [PubMed] [Europe PMC] [Abstract]
  31. "K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)."Hum. Hered. 50:234-236(2000) [PubMed] [Europe PMC] [Abstract]
  32. "A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes."J. Invest. Dermatol. 116:964-969(2001) [PubMed] [Europe PMC] [Abstract]
  33. "Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly."J. Biol. Chem. 277:23670-23674(2002) [PubMed] [Europe PMC] [Abstract]
  34. "Epidermolysis bullosa simplex in Israel: clinical and genetic features."Arch. Dermatol. 139:498-505(2003) [PubMed] [Europe PMC] [Abstract]
  35. "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]
  36. "A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema."J. Invest. Dermatol. 121:482-485(2003) [PubMed] [Europe PMC] [Abstract]
  37. "A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex."Clin. Exp. Dermatol. 29:539-541(2004) [PubMed] [Europe PMC] [Abstract]
  38. "A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype."Exp. Dermatol. 13:332-334(2004) [PubMed] [Europe PMC] [Abstract]
  39. "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease."Am. J. Hum. Genet. 78:510-519(2006) [PubMed] [Europe PMC] [Abstract]
  40. "Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]
  41. "Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
  42. "Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex." Br. J. Dermatol. 165:683-692(2011) [PubMed] [Europe PMC] [Abstract]