KRT86

KRT86
Identifiers
Aliases	KRT86 , HB6, Hb1, KRTHB1, KRTHB6, MNX, hHb6, K86, keratin 86
External IDs	OMIM: 601928 MGI: 109362 HomoloGene: 1717 GeneCards: KRT86
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.13 Start 52,249,300 bp [1] End 52,309,163 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 F2|15 56.9 cM Start 101,473,478 bp [2] End 101,479,986 bp [2]
Gene ontology Molecular function • GO:0001948 protein binding • structural molecule activity Cellular component • keratin filament • extracellular exosome • intermediate filament • extracellular space • cytosol Biological process • keratinization • cornification Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3892	16679
Ensembl	ENSG00000170442	ENSMUSG00000067614
UniProt	O43790	P97861
RefSeq (mRNA)	NM_002284 NM_001320198	NM_010667
RefSeq (protein)	NP_001307127	NP_034797
Location (UCSC)	Chr 12: 52.25 – 52.31 Mb	Chr 15: 101.47 – 101.48 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene. ^{[5] [6] [7]}

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 KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000170442 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000067614 - 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. Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J (Aug 1997). "Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix". Nat Genet. 16 (4): 372–4. doi:10.1038/ng0897-372. PMID   9241275. S2CID   25352502.
6. 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.
7. "Entrez Gene: KRT86 keratin 86".

Further reading

• Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. International Review of Cytology. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. ISBN   9780123646477. PMID   15797458.
• 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.
• Rogers MA, Langbein L, Praetzel S, et al. (1997). "Sequences and differential expression of three novel human type-II hair keratins". Differentiation. 61 (3): 187–94. doi:10.1046/j.1432-0436.1997.6130187.x. PMID   9084137.
• 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. S2CID   20555394.
• 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, Clark RD, Tarras-Wahlberg C, et al. (1999). "Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6". J. Invest. Dermatol. 113 (2): 263–6. doi: 10.1046/j.1523-1747.1999.00685.x . PMID   10469314.
• Korge BP, Hamm H, Jury CS, et al. (1999). "Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype". J. Invest. Dermatol. 113 (4): 607–12. doi: 10.1046/j.1523-1747.1999.00722.x . PMID   10504448.
• Pearce EG, Smith SK, Lanigan SW, Bowden PE (2000). "Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix". J. Invest. Dermatol. 113 (6): 1123–7. doi: 10.1046/j.1523-1747.1999.00777.x . PMID   10594761.
• 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.
• 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.