From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Keratin 9 is a
protein that in humans is encoded by the KRT9
gene .
[5]
[6]
Keratin 9 is a
type I cytokeratin . It is found only in the terminally differentiated
epidermis of
palms and
soles . Mutations in the gene encoding this protein cause
epidermolytic palmoplantar keratoderma .
[7]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000171403 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000051617 –
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 .
^ Langbein L, Heid HW, Moll I, Franke WW (December 1993). "Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression". Differentiation . 55 (1): 57–71.
doi :
10.1111/j.1432-0436.1993.tb00033.x .
PMID
7507869 .
^ 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 .
^ Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K (February 1994). "Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)". Nat. Genet . 6 (2): 174–9.
doi :
10.1038/ng0294-174 .
PMID
7512862 .
S2CID
31277241 .
Further reading
Stelzl U, Worm U, Lalowski M, et al. (2005).
"A human protein-protein interaction network: a resource for annotating the proteome" . Cell . 122 (6): 957–68.
doi :
10.1016/j.cell.2005.08.029 .
hdl :
11858/00-001M-0000-0010-8592-0 .
PMID
16169070 .
S2CID
8235923 .
Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S (1996). "Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation". FEBS Lett . 386 (2–3): 149–55.
doi :
10.1016/0014-5793(96)00393-6 .
hdl :
2433/182271 .
PMID
8647270 .
S2CID
28388021 .
Jin J, Smith FD, Stark C, et al. (2004).
"Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization" . Curr. Biol . 14 (16): 1436–50.
Bibcode :
2004CBio...14.1436J .
doi :
10.1016/j.cub.2004.07.051 .
PMID
15324660 .
S2CID
2371325 .
Feng W, Han W, Man X, et al. (2008).
"Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma" . Eur J Dermatol . 18 (4): 387–90.
doi :
10.1684/ejd.2008.0432 (inactive 31 January 2024).
PMID
18573708 . {{
cite journal }}
: CS1 maint: DOI inactive as of January 2024 (
link )
Kierszenbaum AL (2002). "Keratins: unraveling the coordinated construction of scaffolds in spermatogenic cells". Mol. Reprod. Dev . 61 (1): 1–2.
doi :
10.1002/mrd.1124 .
PMID
11774369 .
S2CID
28475473 .
Endo H, Hatamochi A, Shinkai H (1997).
"A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma" . J. Invest. Dermatol . 109 (1): 113–5.
doi :
10.1111/1523-1747.ep12276751 .
PMID
9204965 .
Covello SP, Irvine AD, McKenna KE, et al. (1998).
"Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland" . J. Invest. Dermatol . 111 (6): 1207–9.
doi :
10.1046/j.1523-1747.1998.00445.x .
PMID
9856842 .
Hamada T, Ishii N, Karashima T, et al. (2005). "The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses". J. Dermatol . 32 (6): 500–2.
doi :
10.1111/j.1346-8138.2005.tb00789.x .
PMID
16043929 .
S2CID
32916199 .
Barbe L, Lundberg E, Oksvold P, et al. (2008).
"Toward a confocal subcellular atlas of the human proteome" . Mol. Cell. Proteomics . 7 (3): 499–508.
doi :
10.1074/mcp.M700325-MCP200 .
PMID
18029348 .
S2CID
10810250 .
Kobayashi S, Kore-eda S, Tanaka T (1999).
"Demonstration of the pathogenic effect of point mutated keratin 9 in vivo" . FEBS Lett . 447 (1): 39–43.
doi :
10.1016/S0014-5793(99)00233-1 .
PMID
10218578 .
S2CID
44924402 .
Zhao JJ, Zhang ZH, Niu ZM, et al. (2008). "Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma". Int. J. Dermatol . 47 (6): 634–7.
doi :
10.1111/j.1365-4632.2008.03441.x .
PMID
18477167 .
S2CID
21427875 .
Chen XL, Xu CM, Cai SR, et al. (2009). "Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred". Prenat. Diagn . 29 (9): 911–3.
doi :
10.1002/pd.2315 .
PMID
19548225 .
S2CID
43229075 .
Lee JH, Ahn KS, Lee CH, et al. (2003). "Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma". Exp. Dermatol . 12 (6): 876–81.
doi :
10.1111/j.0906-6705.2003.00012.x .
PMID
14675368 .
S2CID
40628931 .
Tsunemi Y, Hattori N, Saeki H, et al. (2002). "A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma". J. Dermatol . 29 (12): 768–72.
doi :
10.1111/j.1346-8138.2002.tb00220.x .
PMID
12532041 .
S2CID
43884047 .
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 .
Li M, Yang LJ, Hua HK, et al. (2009). "Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family". Clin. Exp. Dermatol . 34 (1): 26–8.
doi :
10.1111/j.1365-2230.2007.02384.x .
PMID
17362238 .
S2CID
10208101 .
Codispoti A, Colombo E, Zocchi L, et al. (2009). "Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression". Eur J Dermatol . 19 (2): 114–8.
doi :
10.1684/ejd.2008.0575 .
PMID
19106041 .
Frum R, Busby SA, Ramamoorthy M, et al. (2007).
"HDM2-binding partners: interaction with translation elongation factor EF1alpha" . J. Proteome Res . 6 (4): 1410–7.
doi :
10.1021/pr060584p .
PMC
4626875 .
PMID
17373842 .
Funakushi N, Mayuzumi N, Sugimura R, Ikeda S (2009). "Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes". Arch Dermatol . 145 (5): 609–10.
doi :
10.1001/archdermatol.2009.83 .
PMID
19451521 .