KRT81
| Keratin 81 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | KRT81 ; HB1; Hb-1; KRTHB1; MLN137; ghHkb1; hHAKB2-1 | ||||||||||
| External IDs | OMIM: 602153 HomoloGene: 55645 GeneCards: KRT81 Gene | ||||||||||
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| RNA expression pattern | |||||||||||
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| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 3887 | 64818 | |||||||||
| Ensembl | ENSG00000205426 | ENSMUSG00000067615 | |||||||||
| UniProt | Q14533 | Q9ERE2 | |||||||||
| RefSeq (mRNA) | NM_002281 | NM_001166157 | |||||||||
| RefSeq (protein) | NP_002272 | NP_001159629 | |||||||||
| Location (UCSC) | Chr 12: 52.68 – 52.69 Mb | Chr 15: 101.46 – 101.46 Mb | |||||||||
| PubMed search | |||||||||||
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.[1][2][3]
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.[3]
References
- ↑ Rogers MA, Nischt R, Korge B, Krieg T, Fink TM, Lichter P, Winter H, Schweizer J (Nov 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.
- ↑ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
- ↑ 3.0 3.1 "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. doi:10.1016/S0955-0674(01)00301-5. 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. doi:10.1016/0923-1811(94)90046-9. PMID 7528047.
- 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. doi:10.1007/s004390050607. 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. PMC 139241. 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. PMC 442148. 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. PMC 528928. 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.
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