KRT83

KRT83
Identifiers
Aliases	KRT83 , HB3, Hb-3, KRTHB3, keratin 83, MNLIX, EKVP5
External IDs	OMIM: 602765 MGI: 3690448 HomoloGene: 68248 GeneCards: KRT83
Gene location (Human)
Chr.	Chromosome 12 (human)
End	52,321,398 bp
Gene ontology
Molecular function	• GO:0001948 protein binding ; • structural molecule activity ;
Cellular component	• keratin filament ; • intermediate filament ; • extracellular space ; • cytosol ;
Biological process	• hair cycle ; • aging ; • epidermis development ; • keratinization ; • cornification ;
	Sources:Amigo / QuickGO
Orthologs
	3889
	100126226
	ENSG00000170523
	ENSMUSG00000067613
	P78385
	E9Q1Y9
	NM_002282
	NM_001201323
	NP_002273
	NP_001188252
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 07, 2021

Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene.^[4]^[5]

Function

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.^[6]

Clinical significance

Mutations in the KRT83 gene have been associated with monilethrix.^[7]

Related Research Articles

Keratin 6A is one of the 27 different type II keratins expressed in humans. Keratin 6A was the first type II keratin sequence determined. Analysis of the sequence of this keratin together with that of the first type I keratin led to the discovery of the four helical domains in the central rod of keratins. In humans Keratin 6A is encoded by the KRT6A gene.

Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.

Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene. Keratin 3 is a type II cytokeratin. It is specifically found in the corneal epithelium together with keratin 12.

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.

Keratin 15 is a protein that in humans is encoded by the KRT15 gene.

Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).

Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.

Keratin, type I cuticular Ha1 is a protein that in humans is encoded by the KRT31 gene.

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.

Keratin, type II cytoskeletal 78 is a protein that in humans is encoded by the KRT78 gene.

Keratin, type I cuticular Ha3-II is a protein that in humans is encoded by the KRT33B gene.

Keratin, type I cytoskeletal 23 is a protein that in humans is encoded by the KRT23 gene.

Keratin, type I cuticular Ha2 is a protein that in humans is encoded by the KRT32 gene.

Keratin, type I cuticular Ha3-I is a protein that in humans is encoded by the KRT33A gene.

Keratin, type I cuticular Ha4 is a protein that in humans is encoded by the KRT34 gene.

Keratin, type II cuticular Hb5 is a protein that in humans is encoded by the KRT85 gene.

Keratin, type I cuticular Ha6 is a protein that in humans is encoded by the KRT36 gene.

Keratin 80, also known as KRT80, is a protein which humans is encoded by the KRT80 gene.

Keratin 79 also known as KRT79 is a protein which humans is encoded by the KRT79 gene.

Keratin 37 is a protein that in humans is encoded by the KRT37 gene. KRT37 is a member of the keratin gene family.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000170523 - 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.

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. 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000170523 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9084137-4] 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.

[pmid16831889-5] 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-6] "Entrez Gene: KRT83 keratin 83".

[pmid15744029-7] 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.

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KRT83

Contents

Function

Clinical significance

Related Research Articles

References

Further reading