KRT81

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Keratin 81
Identifiers
Symbols KRT81 ; HB1; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1
External IDs Template:OMIM5 HomoloGene55645
RNA expression pattern
File:PBB GE KRT81 213711 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Keratin 81, also known as KRT81, is a human gene.[1]

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix.[1]

References

  1. 1.0 1.1 "Entrez Gene: KRT81 keratin 81".

Further reading

  • Coulombe PA, Omary MB (2002). "'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments". Curr. Opin. Cell Biol. 14 (1): 110–22. PMID 11792552.
  • Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. PMID 15797458.
  • Tomasetto C, Régnier C, Moog-Lutz C; et al. (1996). "Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17". Genomics. 28 (3): 367–76. doi:10.1006/geno.1995.1163. PMID 7490069.
  • Bowden PE, Hainey S, Parker G, Hodgins MB (1995). "Sequence and expression of human hair keratin genes". J. Dermatol. Sci. 7 Suppl: S152–63. PMID 7528047.
  • Rogers MA, Nischt R, Korge B; et al. (1995). "Sequence data and chromosomal localization of human type I and type II hair keratin genes". Exp. Cell Res. 220 (2): 357–62. doi:10.1006/excr.1995.1326. PMID 7556444.
  • Winter H, Rogers MA, Gebhardt M; et al. (1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix". Hum. Genet. 101 (2): 165–9. PMID 9402962.
  • Bowden PE, Hainey SD, Parker G; et al. (1998). "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle". J. Invest. Dermatol. 110 (2): 158–64. doi:10.1046/j.1523-1747.1998.00097.x. PMID 9457912.
  • Winter H, Labrèze C, Chapalain V; et al. (1998). "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1". J. Invest. Dermatol. 111 (1): 169–72. doi:10.1046/j.1523-1747.1998.00234.x. PMID 9665406.
  • Rogers MA, Winter H, Langbein L; et al. (2000). "Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain". J. Invest. Dermatol. 114 (3): 464–72. doi:10.1046/j.1523-1747.2000.00910.x. PMID 10692104.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Nishikawa J, Kiss C, Imai S; et al. (2003). "Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV)". Int. J. Cancer. 107 (4): 597–602. doi:10.1002/ijc.11289. PMID 14520698.
  • Colland F, Jacq X, Trouplin V; et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Schweizer J, Bowden PE, Coulombe PA; et al. (2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMID 16831889.

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