FERMT1

FERMT1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KMC, 4BBK
Identifiers
Aliases	FERMT1 , C20orf42, DTGCU2, KIND1, UNC112A, URP1, fermitin family member 1, FERM domain containing kindlin 1
External IDs	OMIM: 607900 MGI: 2443583 HomoloGene: 9773 GeneCards: FERMT1
Gene location (Human)
Chr.	Chromosome 20 (human)
End	6,123,030 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	132,787,826 bp
RNA expression pattern
	Top expressed in
	hair follicle; ; rectum; ; pancreatic ductal cell; ; nipple; ; human penis; ; secondary oocyte; ; Left adrenal gland; ; cavity of mouth; ; vulva; ; jejunal mucosa;
	Top expressed in
	colon; ; stomach; ; proximal tubule; ; jejunum; ; ileum; ; duodenum; ; kidney; ; urethra; ; zone of skin; ; lip;
	More reference expression data
	; ;
	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
	55612
	241639
	ENSG00000101311
	ENSMUSG00000027356
	Q9BQL6
	P59113
	NM_017671
	NM_198029
	NP_060141
	NP_932146
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 13, 2022

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

Related Research Articles

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 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.

Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.

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

Treacle protein is a protein that in humans is encoded by the TCOF1 gene.

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

<span class="mw-page-title-main">Kindler syndrome</span> Medical condition

Kindler syndrome is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.

LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

Lympho-epithelial Kazal-type-related inhibitor (LEKTI) also known as serine protease inhibitor Kazal-type 5 (SPINK5) is a protein that in humans is encoded by the SPINK5 gene.

Loricrin is a protein that in humans is encoded by the LOR gene.

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.

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

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.

Fermitin family homolog 3) (FERMT3), also known as kindlin-3 (KIND3), MIG2-like protein (MIG2B), or unc-112-related protein 2 (URP2) is a protein that in humans is encoded by the FERMT3 gene. The kindlin family of proteins, member of the B4.1 superfamily, comprises three conserved protein homologues, kindlin 1, 2, and 3. They each contain a bipartite FERM domain comprising four subdomains F0, F1, F2, and F3 that show homology with the FERM head (H) domain of the cytoskeletal Talin protein. Kindlins have been linked to Kindler syndrome, leukocyte adhesion deficiency, cancer and other acquired human diseases. They are essential in the organisation of focal adhesions that mediate cell-extracellular matrix junctions and are involved in other cellular compartments that control cell-cell contacts and nucleus functioning. Therefore, they are responsible for cell to cell crosstalk via cell-cell contacts and integrin mediated cell adhesion through focal adhesion proteins and as specialised adhesion structures of hematopoietic cells they are also present in podosome's F actin surrounding ring structure. Isoform 2 may act as a repressor of NF-kappa-B and apoptosis

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000101311 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027356 - 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.
↑ 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.
↑ 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.
↑ "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 .

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 . 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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000101311 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12697302-5] 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.

[pmid12789646-6] 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.

[entrez-7] "Entrez Gene: C20orf42 chromosome 20 open reading frame 42".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

FERMT1

Contents

Related Research Articles

References

External links

Further reading