FERMT1

FERMT1
Identifiers
Aliases	FERMT1 , C20orf42, DTGCU2, KIND1, UNC112A, URP1, fermitin family member 1, FERM domain containing kindlin 1
External IDs	OMIM: 607900; MGI: 2443583; GeneCards: FERMT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KMC, 4BBK
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p12.3 Start 6,074,845 bp [1] End 6,123,030 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 F2 Start 132,746,309 bp [2] End 132,787,826 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of sigmoid colon gingival epithelium hair follicle rectum pancreatic ductal cell skin of thigh mucosa of transverse colon nipple right adrenal cortex human penis Top expressed in right kidney colon stomach genital tubercle proximal tubule jejunum ileum duodenum tail of embryo human kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin filament binding Cellular component cell projection ruffle membrane cytosol cell junction filamentous actin plasma membrane membrane focal adhesion cytoplasm cytoskeleton Biological process keratinocyte proliferation cell adhesion keratinocyte migration establishment of epithelial cell polarity positive regulation of cell-matrix adhesion negative regulation of gene expression positive regulation of transforming growth factor beta receptor signaling pathway positive regulation of cell adhesion mediated by integrin negative regulation of protein import into nucleus negative regulation of timing of anagen basement membrane organization negative regulation of canonical Wnt signaling pathway negative regulation of stem cell proliferation integrin-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 55612 241639 Ensembl ENSG00000101311 ENSMUSG00000027356 UniProt Q9BQL6 P59113 RefSeq (mRNA) NM_017671 NM_198029 RefSeq (protein) NP_060141 NP_932146 Location (UCSC) Chr 20: 6.07 – 6.12 Mb Chr 2: 132.75 – 132.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Fermitin family homolog 1 is a protein that in humans is encoded by the FERMT1 gene. ^{[5] [6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000101311 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027356 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: C20orf42 chromosome 20 open reading frame 42".

External links

• FERMT1 Info with links in the Cell Migration Gateway Archived 2014-12-11 at the Wayback Machine
• Human FERMT1 genome location and FERMT1 gene details page in the UCSC Genome Browser .

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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1083/jcb.140.4.737. PMC   2141757 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. doi: 10.1093/hmg/ddg097 . PMID   12668616.
• 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 . hdl: 2434/732663 . 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.