FRAS1

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)
End	78,544,269 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	96,932,587 bp
RNA expression pattern
	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
	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
	80144
	231470
	ENSG00000138759
	ENSMUSG00000034687
	Q86XX4
	Q80T14
	NM_001166133; NM_020875; NM_025074; NM_032863; NM_206841
	NM_175473
	NP_001159605; NP_079350
	NP_780682
	Wikidata
View/Edit Human	View/Edit Mouse

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.^[5]^[6] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

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. ^[7]

Fras1 related extracellular matrix (FREM1^[8]) 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.^[9]

Clinical significance

Mutations in this gene have been observed to cause fraser syndrome.^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138759 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034687 – 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.
^ "Entrez Gene: Fraser syndrome 1".
^ McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, et al. (June 2003). "Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein". Nature Genetics. 34 (2): 203–208. doi:10.1038/ng1142. PMID 12766769. S2CID 1018128.
^ Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, et al. (July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The Prostate. 81 (10): 683–693. doi:10.1002/pros.24148. PMC 8491321. PMID 33956343.
^ Li, Chumei; Slavotinek, Anne (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "FREM1 Autosomal Recessive Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301721, retrieved 2021-11-23
^ Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, et al. (July 2021). "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer". The Prostate. 81 (10): 683–693. doi:10.1002/pros.24148. PMC 8491321. PMID 33956343.
^ "Fraser syndrome 1". February 23, 2010. Retrieved May 17, 2010.