KRT78

KRT78
Identifiers
Aliases	KRT78 , CK-78, K5B, K78, Kb40, keratin 78
External IDs	OMIM: 611159; MGI: 1917529; HomoloGene: 65261; GeneCards: KRT78; OMA:KRT78 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.13 Start 52,837,804 bp [1] End 52,849,092 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 F2 Start 101,854,436 bp [2] End 101,862,722 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell oral cavity mucosa of pharynx amniotic fluid skin of leg body of tongue gums skin of abdomen gingival epithelium testicle Top expressed in esophagus lip skin of external ear condyle conjunctival fornix fossa stomach skin of back cornea molar More reference expression data BioGPS n/a
Gene ontology Molecular function structural molecule activity Cellular component intermediate filament keratin filament extracellular exosome extracellular space cytosol Biological process keratinization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 196374 332131 Ensembl ENSG00000170423 ENSMUSG00000050463 UniProt Q8N1N4 n/a RefSeq (mRNA) NM_001300814 NM_173352 NM_212487 RefSeq (protein) NP_001287743 NP_775487 n/a Location (UCSC) Chr 12: 52.84 – 52.85 Mb Chr 15: 101.85 – 101.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Keratin, type II cytoskeletal 78 is a protein that in humans is encoded by the KRT78 gene. ^{[5] [6]}

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]

References

1. GRCh38: Ensembl release 89: ENSG00000170423 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000050463 – Ensembl, 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. 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.
6. "Entrez Gene: KRT78 keratin 78".

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.
• 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.