C20orf42

From Wikipedia, the free encyclopedia


Chromosome 20 open reading frame 42
Identifiers
Symbol(s) C20orf42; DTGCU2; FLJ20116; FLJ23423; KIND1; URP1
External IDs OMIM: 607900 MGI: 2443583 HomoloGene: 9773
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 55612 241639
Ensembl ENSG00000101311 ENSMUSG00000027356
Uniprot Q9BQL6 Q4W4Z0
Refseq NM_017671 (mRNA)
NP_060141 (protein)		 XM_001000475 (mRNA)
XP_001000475 (protein)
Location Chr 20: 6 - 6.05 Mb Chr 2: 132.6 - 132.64 Mb
Pubmed search [1] [2]

Chromosome 20 open reading frame 42, also known as C20orf42, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: C20orf42 chromosome 20 open reading frame 42.

[edit] Further reading

  • White SJ, McLean WH (2005). "Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.". J. Dermatol. Sci. 38 (3): 169–75. doi:10.1016/j.jdermsci.2004.12.026. PMID 15927810. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Wang HY, Lin W, Dyck JA, et al. (1998). "SRPK2: a differentially expressed SR protein-specific kinase involved in mediating the interaction and localization of pre-mRNA splicing factors in mammalian cells.". J. Cell Biol. 140 (4): 737–50. PMID 9472028. 
  • 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. PMID 12477932. 
  • Jobard F, Bouadjar B, Caux F, et al. (2004). "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.". Hum. Mol. Genet. 12 (8): 925–35. PMID 12668616. 
  • Weinstein EJ, Bourner M, Head R, et al. (2003). "URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas.". Biochim. Biophys. Acta 1637 (3): 207–16. PMID 12697302. 
  • Siegel DH, Ashton GH, Penagos HG, et al. (2003). "Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.". Am. J. Hum. Genet. 73 (1): 174–87. PMID 12789646. 
  • Kloeker S, Major MB, Calderwood DA, et al. (2004). "The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.". J. Biol. Chem. 279 (8): 6824–33. doi:10.1074/jbc.M307978200. PMID 14634021. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Ashton GH, McLean WH, South AP, et al. (2004). "Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.". J. Invest. Dermatol. 122 (1): 78–83. doi:10.1046/j.0022-202X.2003.22136.x. PMID 14962093. 
  • Fassihi H, Wessagowit V, Jones C, et al. (2005). "Neonatal diagnosis of Kindler syndrome.". J. Dermatol. Sci. 39 (3): 183–5. doi:10.1016/j.jdermsci.2005.05.007. PMID 16051467. 
  • Has C, Wessagowit V, Pascucci M, et al. (2006). "Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.". J. Invest. Dermatol. 126 (8): 1776–83. doi:10.1038/sj.jid.5700339. PMID 16675959. 
  • Herz C, Aumailley M, Schulte C, et al. (2007). "Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.". J. Biol. Chem. 281 (47): 36082–90. doi:10.1074/jbc.M606259200. PMID 17012746. 
  • Sadler E, Klausegger A, Muss W, et al. (2007). "Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.". Archives of dermatology 142 (12): 1619–24. doi:10.1001/archderm.142.12.1619. PMID 17178989. 
  • Lai-Cheong JE, Liu L, Sethuraman G, et al. (2007). "Five new homozygous mutations in the KIND1 gene in Kindler syndrome.". J. Invest. Dermatol. 127 (9): 2268–70. doi:10.1038/sj.jid.5700830. PMID 17460733. 
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