This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000170423 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000050463 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. PMC2064177. PMID 16831889.
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.
Mischke D, Wild G (1987). "Polymorphic keratins in human epidermis". J. Invest. Dermatol. 88 (2): 191–7. doi:10.1111/1523-1747.ep12525329. PMID 2433356.
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.
Hesse M, Magin TM, Weber K (2002). "Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18". J. Cell Sci. 114 (Pt 14): 2569–75. doi:10.1242/jcs.114.14.2569. PMID 11683385.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hesse M, Zimek A, Weber K, Magin TM (2004). "Comprehensive analysis of keratin gene clusters in humans and rodents". Eur. J. Cell Biol. 83 (1): 19–26. doi:10.1078/0171-9335-00354. hdl:11858/00-001M-0000-0012-EE54-6. PMID 15085952.
Rogers MA, Edler L, Winter H, et al. (2005). "Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13". J. Invest. Dermatol. 124 (3): 536–44. doi:10.1111/j.0022-202X.2004.23530.x. PMID 15737194.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC1847948. PMID 17353931.
This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.
krt78, keratin, type, cytoskeletal, protein, that, humans, encoded, gene, identifiersaliases, kb40, keratin, 78external, idsomim, 611159, 1917529, homologene, 65261, genecards, gene, location, human, chromosome, human, band12q13, 13start52, end52, gene, locati. Keratin type II cytoskeletal 78 is a protein that in humans is encoded by the KRT78 gene 5 6 KRT78IdentifiersAliasesKRT78 CK 78 K5B K78 Kb40 keratin 78External IDsOMIM 611159 MGI 1917529 HomoloGene 65261 GeneCards KRT78Gene location Human Chr Chromosome 12 human 1 Band12q13 13Start52 837 804 bp 1 End52 849 092 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 15 F2Start101 854 436 bp 2 End101 862 722 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inoral cavityamniotic fluidbody of tonguegumsskin of abdomensuperior surface of tonguehuman penisvulvavaginathymusTop expressed inesophaguslipcondyleconjunctival fornixfossastomachskin of backcorneamolarbelly cordMore reference expression dataBioGPSn aGene ontologyMolecular functionstructural molecule activityCellular componentintermediate filament keratin filament extracellular exosome extracellular space cytosolBiological processkeratinization cornificationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez196374332131EnsemblENSG00000170423ENSMUSG00000050463UniProtQ8N1N4n aRefSeq mRNA NM 001300814NM 173352NM 212487RefSeq protein NP 001287743NP 775487n aLocation UCSC Chr 12 52 84 52 85 MbChr 15 101 85 101 86 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThis gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain Keratins are the major structural proteins in epithelial cells forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non mechanical stresses The genes of the type II keratin family are located as a gene cluster at 12p13 13 Four pseudogenes of this gene family have been identified 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000170423 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000050463 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b Entrez Gene KRT78 keratin 78 Further reading editCoulombe 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 Mischke D Wild G 1987 Polymorphic keratins in human epidermis J Invest Dermatol 88 2 191 7 doi 10 1111 1523 1747 ep12525329 PMID 2433356 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 Hesse M Magin TM Weber K 2002 Genes for intermediate filament proteins and the draft sequence of the human genome novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18 J Cell Sci 114 Pt 14 2569 75 doi 10 1242 jcs 114 14 2569 PMID 11683385 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Hesse M Zimek A Weber K Magin TM 2004 Comprehensive analysis of keratin gene clusters in humans and rodents Eur J Cell Biol 83 1 19 26 doi 10 1078 0171 9335 00354 hdl 11858 00 001M 0000 0012 EE54 6 PMID 15085952 Rogers MA Edler L Winter H et al 2005 Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13 13 J Invest Dermatol 124 3 536 44 doi 10 1111 j 0022 202X 2004 23530 x PMID 15737194 Kimura K Wakamatsu A Suzuki Y et al 2006 Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters of human genes Genome Res 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Ewing RM Chu P Elisma F et al 2007 Large scale mapping of human protein protein interactions by mass spectrometry Mol Syst Biol 3 1 89 doi 10 1038 msb4100134 PMC 1847948 PMID 17353931 nbsp This article on a gene on human chromosome 12 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title KRT78 amp oldid 1170995906, wikipedia, wiki, book, books, library,
