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Keratin 1

From Wikipedia, the free encyclopedia
Protein-coding gene
KRT1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

4ZRY

Identifiers
AliasesKRT1, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK, keratin 1
External IDsOMIM:139350;MGI:96698;HomoloGene:38146;GeneCards:KRT1;OMA:KRT1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT1
Genomic location for KRT1
Band12q13.13Start52,674,736bp[1]
End52,680,407bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for KRT1
Genomic location for KRT1
Band15 F2|15 57.06 cMStart101,753,861bp[2]
End101,759,229bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of thigh

  • vulva

  • skin of arm

  • skin of hip

  • human penis

  • nipple

  • skin of abdomen

  • cervix epithelium

  • gums

  • gingival epithelium
Top expressed in
  • lip

  • condyle

  • umbilical cord

  • skin of external ear

  • skin of abdomen

  • human fetus

  • skin of back

  • fossa

  • sexually immature organism

  • cervix
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3848

16678

Ensembl

ENSG00000167768

ENSMUSG00000046834

UniProt

P04264

P04104

RefSeq (mRNA)

NM_006121

NM_008473

RefSeq (protein)

NP_006112

NP_032499

Location (UCSC)Chr 12: 52.67 – 52.68 MbChr 15: 101.75 – 101.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 1 is a Type IIintermediate filament (IFs) of the intracytoplasmatic cytoskeleton. Is co-expressed with and binds toKeratin 10, a Type I keratin, to form a coiled coil heterotypic keratin chain. Keratin 1 and Keratin 10 are specifically expressed in the spinous and granular layers of theepidermis.[5] In contrast, basal layer keratinocytes express little to no Keratin 1. Mutations inKRT1, the gene encoding Keratin 1, have been associated with variants of the diseasebullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected. Mutations inKRT10 have also been associated with bullous congenital ichthyosiform erythroderma; however, in patients with KRT10 mutations the palms and soles are spared. This difference is likely due toKeratin 9, rather than Keratin 10, being the major binding partner of Keratin 1 in acral (palm and sole) keratinocytes.[6]

Type IIcytokeratins are clustered in a region ofchromosome 12q12-q13.

Interactions

[edit]

Keratin 1 has been shown tointeract withdesmoplakin[7] andPRKCE.[8]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000167768Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000046834Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Freedberg IM (June 1993). "Keratin: a journey of three decades".The Journal of Dermatology.20 (6):321–328.doi:10.1111/j.1346-8138.1993.tb01293.x.PMID 7688776.S2CID 41254909.
  6. ^Merleev AA, Le ST, Alexanian C, Toussi A, Xie Y, Marusina AI, et al. (August 2022)."Biogeographic and disease-specific alterations in epidermal lipid composition and single-cell analysis of acral keratinocytes".JCI Insight.7 (16) e159762.doi:10.1172/jci.insight.159762.PMC 9462509.PMID 35900871.
  7. ^Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W (August 1997)."Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments".The Journal of Biological Chemistry.272 (34):21495–21503.doi:10.1074/jbc.272.34.21495.PMID 9261168.
  8. ^England K, Ashford D, Kidd D, Rumsby M (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts".Cellular Signalling.14 (6):529–536.doi:10.1016/S0898-6568(01)00277-7.PMID 11897493.

Further reading

[edit]
Human
Microfilaments
andABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
andMAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
Stub icon

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