FRAS1

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene. This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

FRAS1
Identifiers
Aliases	FRAS1, Fraser extracellular matrix complex subunit 1, FRASRS1
External IDs	OMIM: 607830; MGI: 2385368; HomoloGene: 23516; GeneCards: FRAS1; OMA:FRAS1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q21.21 Start 78,057,323 bp End 78,544,269 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 E3 Start 96,521,814 bp End 96,932,587 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium parietal pleura renal medulla Brodmann area 23 visceral pleura middle temporal gyrus lateral nuclear group of thalamus epithelium of colon placenta biceps brachii Top expressed in fourth ventricle choroid plexus of fourth ventricle molar squamous epithelium hand choroidal fissure mesothelium pericardium atrium mesothelium of peritoneum More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding extracellular matrix structural constituent Cellular component plasma membrane extracellular matrix membrane basement membrane integral component of membrane collagen-containing extracellular matrix Biological process skin development embryonic limb morphogenesis protein transport metanephros morphogenesis morphogenesis of an epithelium roof of mouth development cell communication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80144 231470 Ensembl ENSG00000138759 ENSMUSG00000034687 UniProt Q86XX4 Q80T14 RefSeq (mRNA) NM_001166133 NM_020875 NM_025074 NM_032863 NM_206841 NM_175473 RefSeq (protein) NP_001159605 NP_079350 NP_780682 Location (UCSC) Chr 4: 78.06 – 78.54 Mb Chr 5: 96.52 – 96.93 Mb PubMed search
Wikidata
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Metastatic prostate cancer

A single nucleotide switch (polymorphism) in FRAS1 promoter region is associated with metastatic Prostate cancer. The promoter region is directly related to the NFkB pathway and has been shown to be associated with lethal prostate cancer.

Fras1 related extracellular matrix (FREM1) directly relates to congenital diaphragmatic hernia in developing fetuses. Decreased expression of FREM1 may be linked with disruptions in the growth of diaphragm cells. Both FRAS1 and FREM1 are among the proteins that are primarily interacting during embryonic development. It is shown that a decrease in these two proteins lead to an increase of congenital diaphragmatic hernia in both humans and mice.

Clinical significance

Mutations in this gene have been observed to cause fraser syndrome.

See also

• Fraser syndrome

Further reading

• Short K, Wiradjaja F, Smyth I (July 2007). "Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion". IUBMB Life. 59 (7): 427–435. doi:10.1080/15216540701510581. PMID 17654118. S2CID 6690146.
• Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M (February 2008). "Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1". Journal of Molecular Biology. 375 (5): 1457–1468. doi:10.1016/j.jmb.2007.11.088. hdl:10397/14647. PMID 18155042.
• Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, et al. (July 2010). "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia". PLOS ONE. 5 (7): e11493. Bibcode:2010PLoSO...511493J. doi:10.1371/journal.pone.0011493. PMC 2901336. PMID 20634891.
• Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, et al. (November 2009). "Common variants in the trichohyalin gene are associated with straight hair in Europeans". American Journal of Human Genetics. 85 (5): 750–755. doi:10.1016/j.ajhg.2009.10.009. PMC 2775823. PMID 19896111.
• Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, et al. (June 2003). "Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice". Nature Genetics. 34 (2): 209–214. doi:10.1038/ng1168. hdl:11858/00-001M-0000-0012-F0CE-9. PMID 12766770. S2CID 23226763.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Docherty SJ, Kovas Y, Petrill SA, Plomin R (July 2010). "Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities". BMC Genetics. 11: 61. doi:10.1186/1471-2156-11-61. PMC 2909150. PMID 20602751.
• Gattuso J, Patton MA, Baraitser M (September 1987). "The clinical spectrum of the Fraser syndrome: report of three new cases and review". Journal of Medical Genetics. 24 (9): 549–555. doi:10.1136/jmg.24.9.549. PMC 1050267. PMID 3118036.
• van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, et al. (September 2008). "Molecular study of 33 families with Fraser syndrome new data and mutation review". American Journal of Medical Genetics. Part A. 146A (17): 2252–2257. doi:10.1002/ajmg.a.32440. PMID 18671281. S2CID 44521706.
• Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (April 2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" (PDF). DNA Research. 7 (2): 143–150. doi:10.1093/dnares/7.2.143. PMID 10819331.