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 (KRT81), KRTHB3 (KRT83, this protein), and KRTHB6 (KRT86), is highly related. The other less-related subfamily includes KRTHB2 (KRT82), KRTHB4 (KRT84), and KRTHB5 (KRT85). All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex.[7]
Clinical significanceedit
Mutations in the KRT83 gene have been associated with monilethrix.[8]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000170523 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000067613 - 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.
^Rogers MA, Langbein L, Praetzel S, Moll I, Krieg T, Winter H, Schweizer J (February 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. Archived from the original on 2013-01-05.
^Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC2064177. PMID 16831889.
^van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M (March 2005). "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix". J. Med. Genet. 42 (3): e19. doi:10.1136/jmg.2004.021030. PMC1736019. PMID 15744029.
Further readingedit
Langbein L, Rogers MA, Winter H, et al. (2001). "The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins". J. Biol. Chem. 276 (37): 35123–32. doi:10.1074/jbc.M103305200. PMID 11445569.
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. ISBN9780123646477. PMID 15797458.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMC139241. PMID 12477932.
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.
krt83, keratin, also, known, protein, which, humans, encoded, gene, identifiersaliases, krthb3, keratin, mnlix, ekvp5external, idsomim, 602765, 3690448, homologene, 68248, genecards, gene, location, human, chromosome, human, band12q13, 13start52, end52, gene, . Keratin 83 also known as KRT83 is a protein which humans is encoded by the KRT83 gene 5 6 KRT83IdentifiersAliasesKRT83 HB3 Hb 3 KRTHB3 keratin 83 MNLIX EKVP5External IDsOMIM 602765 MGI 3690448 HomoloGene 68248 GeneCards KRT83Gene location Human Chr Chromosome 12 human 1 Band12q13 13Start52 314 301 bp 1 End52 321 398 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 15 F2Start101 383 011 bp 2 End101 389 393 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inhair folliclenippleprefrontal cortexspinal cordmesencephalonsubstantia nigrasuperior frontal gyrusBrodmann area 9thyroid glandheadTop expressed inliphair follicleankle jointskin of backskin of abdomendermiscervixsexually immature organismconjunctival fornixbone marrowMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding structural molecule activityCellular componentkeratin filament intermediate filament extracellular space cytosolBiological processhair cycle human ageing epidermis development keratinization cornificationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez3889100126226EnsemblENSG00000170523ENSMUSG00000067613UniProtP78385E9Q1Y9RefSeq mRNA NM 002282NM 001201323RefSeq protein NP 002273NP 001188252Location UCSC Chr 12 52 31 52 32 MbChr 15 101 38 101 39 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further readingFunction editThe 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 KRT81 KRTHB3 KRT83 this protein and KRTHB6 KRT86 is highly related The other less related subfamily includes KRTHB2 KRT82 KRTHB4 KRT84 and KRTHB5 KRT85 All hair keratins are expressed in the hair follicle this hair keratin as well as KRTHB1 and KRTHB6 is found primarily in the hair cortex 7 Clinical significance editMutations in the KRT83 gene have been associated with monilethrix 8 References edit a b c GRCh38 Ensembl release 89 ENSG00000170523 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000067613 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 Rogers MA Langbein L Praetzel S Moll I Krieg T Winter H Schweizer J February 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 Archived from the original on 2013 01 05 Schweizer J Bowden PE Coulombe PA Langbein L Lane EB Magin TM Maltais L Omary MB Parry DA Rogers MA Wright MW July 2006 New consensus nomenclature for mammalian keratins J Cell Biol 174 2 169 74 doi 10 1083 jcb 200603161 PMC 2064177 PMID 16831889 Entrez Gene KRT83 keratin 83 van Steensel MA Steijlen PM Bladergroen RS Vermeer M van Geel M March 2005 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix J Med Genet 42 3 e19 doi 10 1136 jmg 2004 021030 PMC 1736019 PMID 15744029 Further reading editLangbein L Rogers MA Winter H et al 2001 The catalog of human hair keratins II Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins J Biol Chem 276 37 35123 32 doi 10 1074 jbc M103305200 PMID 11445569 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 Strausberg RL Feingold EA Grouse LH et al 2002 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 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 This article incorporates text from the United States National Library of Medicine which is in the public domain 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 KRT83 amp oldid 1042824169, wikipedia, wiki, book, books, library,
