KRT78

KRT78
Identifiers
AliasesKRT78, CK-78, K5B, K78, Kb40, keratin 78
External IDsOMIM: 611159; MGI: 1917529; HomoloGene: 65261; GeneCards: KRT78; OMA:KRT78 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT78
Genomic location for KRT78
Band12q13.13Start52,837,804 bp[1]
End52,849,092 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for KRT78
Genomic location for KRT78
Band15|15 F2Start101,854,436 bp[2]
End101,862,722 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 101.85 – 101.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000170423 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
  • v
  • t
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Human
Microfilaments
and ABPs
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
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects


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