C20orf42: Difference between revisions

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{{Underlinked|date=May 2016}}
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{{Infobox_gene}}
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'''Fermitin family homolog 1''' is a [[protein]] that in humans is encoded by the ''FERMT1'' [[gene]].<ref name="pmid12697302">{{cite journal | vauthors = Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C, Mazzarella R | title = 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 | journal = Biochim Biophys Acta | volume = 1637 | issue = 3 | pages = 207–16 |date=Apr 2003 | pmid = 12697302 | pmc =  | doi =  10.1016/S0925-4439(03)00035-8}}</ref><ref name="pmid12789646">{{cite journal | vauthors = Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH | title = Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome | journal = Am J Hum Genet | volume = 73 | issue = 1 | pages = 174–87 |date=Jun 2003 | pmid = 12789646 | pmc = 1180579 | doi = 10.1086/376609 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: C20orf42 chromosome 20 open reading frame 42| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55612| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Chromosome 20 open reading frame 42
| HGNCid = 15889
| Symbol = C20orf42
| AltSymbols =; DTGCU2; FLJ20116; FLJ23423; KIND1; URP1
| OMIM = 607900
| ECnumber =
  | Homologene = 9773
  | MGIid = 2443583
| GeneAtlas_image1 = PBB_GE_C20orf42_218796_at_tn.png
| GeneAtlas_image2 = PBB_GE_C20orf42_60474_at_tn.png
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55612
    | Hs_Ensembl = ENSG00000101311
    | Hs_RefseqProtein = NP_060141
    | Hs_RefseqmRNA = NM_017671
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 6003493
    | Hs_GenLoc_end = 6052191
    | Hs_Uniprot = Q9BQL6
    | Mm_EntrezGene = 241639
    | Mm_Ensembl = ENSMUSG00000027356
    | Mm_RefseqmRNA = XM_001000475
    | Mm_RefseqProtein = XP_001000475
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 132595833
    | Mm_GenLoc_end = 132637069
    | Mm_Uniprot = Q4W4Z0
  }}
}}
'''Chromosome 20 open reading frame 42''', also known as '''C20orf42''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: C20orf42 chromosome 20 open reading frame 42| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55612| accessdate = }}</ref>


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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [http://cmkb.cellmigration.org/report.cgi?report=orth_overview&gene_id=55612 FERMT1] Info with links in the [http://www.cellmigration.org/index.shtml Cell Migration Gateway]
* {{UCSC gene info|FERMT1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=White SJ, McLean WH |title=Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. |journal=J. Dermatol. Sci. |volume=38 |issue= 3 |pages= 169-75 |year= 2005 |pmid= 15927810 |doi= 10.1016/j.jdermsci.2004.12.026 }}
*{{cite journal  | vauthors=White SJ, McLean WH |title=Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome |journal=J. Dermatol. Sci. |volume=38 |issue= 3 |pages= 169–75 |year= 2005 |pmid= 15927810 |doi= 10.1016/j.jdermsci.2004.12.026 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
*{{cite journal  | author=Wang HY, Lin W, Dyck JA, ''et al.'' |title=SRPK2: a differentially expressed SR protein-specific kinase involved in mediating the interaction and localization of pre-mRNA splicing factors in mammalian cells. |journal=J. Cell Biol. |volume=140 |issue= 4 |pages= 737-50 |year= 1998 |pmid= 9472028 |doi=  }}
*{{cite journal  | vauthors=Wang HY, Lin W, Dyck JA |title=SRPK2: A Differentially Expressed SR Protein-specific Kinase Involved in Mediating the Interaction and Localization of Pre-mRNA Splicing Factors in Mammalian Cells |journal=J. Cell Biol. |volume=140 |issue= 4 |pages= 737–50 |year= 1998 |pmid= 9472028 |doi=10.1083/jcb.140.4.737  | pmc=2141757 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Jobard F, Bouadjar B, Caux F, ''et al.'' |title=Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. |journal=Hum. Mol. Genet. |volume=12 |issue= 8 |pages= 925-35 |year= 2004 |pmid= 12668616 |doi= }}
*{{cite journal  | vauthors=Jobard F, Bouadjar B, Caux F |title=Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome |journal=Hum. Mol. Genet. |volume=12 |issue= 8 |pages= 925–35 |year= 2004 |pmid= 12668616 |doi=10.1093/hmg/ddg097 |display-authors=etal}}
*{{cite journal  | author=Weinstein EJ, Bourner M, Head R, ''et al.'' |title=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. |journal=Biochim. Biophys. Acta |volume=1637 |issue= 3 |pages= 207-16 |year= 2003 |pmid= 12697302 |doi=  }}
*{{cite journal  | vauthors=Kloeker S, Major MB, Calderwood DA |title=The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion |journal=J. Biol. Chem. |volume=279 |issue= 8 |pages= 6824–33 |year= 2004 |pmid= 14634021 |doi= 10.1074/jbc.M307978200 |display-authors=etal}}
*{{cite journal | author=Siegel DH, Ashton GH, Penagos HG, ''et al.'' |title=Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. |journal=Am. J. Hum. Genet. |volume=73 |issue= 1 |pages= 174-87 |year= 2003 |pmid= 12789646 |doi=  }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Kloeker S, Major MB, Calderwood DA, ''et al.'' |title=The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. |journal=J. Biol. Chem. |volume=279 |issue= 8 |pages= 6824-33 |year= 2004 |pmid= 14634021 |doi= 10.1074/jbc.M307978200 }}
*{{cite journal  | vauthors=Ashton GH, McLean WH, South AP |title=Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome |journal=J. Invest. Dermatol. |volume=122 |issue= 1 |pages= 78–83 |year= 2004 |pmid= 14962093 |doi= 10.1046/j.0022-202X.2003.22136.x |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Fassihi H, Wessagowit V, Jones C |title=Neonatal diagnosis of Kindler syndrome |journal=J. Dermatol. Sci. |volume=39 |issue= 3 |pages= 183–5 |year= 2005 |pmid= 16051467 |doi= 10.1016/j.jdermsci.2005.05.007 |display-authors=etal}}
*{{cite journal  | author=Ashton GH, McLean WH, South AP, ''et al.'' |title=Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. |journal=J. Invest. Dermatol. |volume=122 |issue= 1 |pages= 78-83 |year= 2004 |pmid= 14962093 |doi= 10.1046/j.0022-202X.2003.22136.x }}
*{{cite journal  | vauthors=Has C, Wessagowit V, Pascucci M |title=Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene |journal=J. Invest. Dermatol. |volume=126 |issue= 8 |pages= 1776–83 |year= 2006 |pmid= 16675959 |doi= 10.1038/sj.jid.5700339 |display-authors=etal}}
*{{cite journal  | author=Fassihi H, Wessagowit V, Jones C, ''et al.'' |title=Neonatal diagnosis of Kindler syndrome. |journal=J. Dermatol. Sci. |volume=39 |issue= 3 |pages= 183-5 |year= 2005 |pmid= 16051467 |doi= 10.1016/j.jdermsci.2005.05.007 }}
*{{cite journal  | vauthors=Herz C, Aumailley M, Schulte C |title=Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes |journal=J. Biol. Chem. |volume=281 |issue= 47 |pages= 36082–90 |year= 2007 |pmid= 17012746 |doi= 10.1074/jbc.M606259200 |display-authors=etal}}
*{{cite journal  | author=Has C, Wessagowit V, Pascucci M, ''et al.'' |title=Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. |journal=J. Invest. Dermatol. |volume=126 |issue= 8 |pages= 1776-83 |year= 2006 |pmid= 16675959 |doi= 10.1038/sj.jid.5700339 }}
*{{cite journal  | vauthors=Sadler E, Klausegger A, Muss W |title=Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement |journal=Archives of dermatology |volume=142 |issue= 12 |pages= 1619–24 |year= 2007 |pmid= 17178989 |doi= 10.1001/archderm.142.12.1619 |display-authors=etal}}
*{{cite journal  | author=Herz C, Aumailley M, Schulte C, ''et al.'' |title=Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. |journal=J. Biol. Chem. |volume=281 |issue= 47 |pages= 36082-90 |year= 2007 |pmid= 17012746 |doi= 10.1074/jbc.M606259200 }}
*{{cite journal  | vauthors=Lai-Cheong JE, Liu L, Sethuraman G |title=Five new homozygous mutations in the KIND1 gene in Kindler syndrome |journal=J. Invest. Dermatol. |volume=127 |issue= 9 |pages= 2268–70 |year= 2007 |pmid= 17460733 |doi= 10.1038/sj.jid.5700830 |display-authors=etal}}
*{{cite journal  | author=Sadler E, Klausegger A, Muss W, ''et al.'' |title=Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. |journal=Archives of dermatology |volume=142 |issue= 12 |pages= 1619-24 |year= 2007 |pmid= 17178989 |doi= 10.1001/archderm.142.12.1619 }}
*{{cite journal  | author=Lai-Cheong JE, Liu L, Sethuraman G, ''et al.'' |title=Five new homozygous mutations in the KIND1 gene in Kindler syndrome. |journal=J. Invest. Dermatol. |volume=127 |issue= 9 |pages= 2268-70 |year= 2007 |pmid= 17460733 |doi= 10.1038/sj.jid.5700830 }}
}}
}}
{{refend}}
{{refend}}
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{{gene-20-stub}}
{{gene-20-stub}}
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Latest revision as of 09:01, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Fermitin family homolog 1 is a protein that in humans is encoded by the FERMT1 gene.[1][2][3]


References

  1. ↑ Weinstein EJ, Bourner M, Head R, Zakeri H, Bauer C, Mazzarella R (Apr 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. doi:10.1016/S0925-4439(03)00035-8. PMID 12697302.
  2. ↑ Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH (Jun 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. doi:10.1086/376609. PMC 1180579. PMID 12789646.
  3. ↑ "Entrez Gene: C20orf42 chromosome 20 open reading frame 42".

External links

Further reading



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