KRT81

KRT81
Identifiers
Aliases	KRT81 , HB1, Hb-1, KRTHB1, MLN137, ghHkb1, hHAKB2-1, keratin 81, K81
External IDs	OMIM: 602153; MGI: 1928858; HomoloGene: 55645; GeneCards: KRT81; OMA:KRT81 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.13 Start 52,285,913 bp [1] End 52,291,534 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 F2|15 56.9 cM Start 101,356,942 bp [2] End 101,361,632 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle hair follicle placenta mammary gland olfactory zone of nasal mucosa female breast lactiferous gland amniotic fluid right coronary artery bone Top expressed in lip right ventricle tibiofemoral joint hair follicle granulocyte skin of back skin of abdomen gastrula motor neuron sternocleidomastoid muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural molecule activity Cellular component intermediate filament keratin filament extracellular space cytosol Biological process keratinization cornification Sources:Amigo / QuickGO
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: 52.29 – 52.29 Mb Chr 15: 101.36 – 101.36 Mb PubMed search [3] [4]
Wikidata
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Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 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 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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000205426 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000067615 – 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. 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.
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: 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. International Review of Cytology. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. ISBN   9780123646477. 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. 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, 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. Bibcode:2002PNAS...9916899M. 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. S2CID   2569578.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.