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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FRAS1 , Fraser extracellular matrix complex subunit 1, FRASRS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607830 MGI: 2385368 HomoloGene: 23516 GeneCards: FRAS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
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]
Mutations in this gene have been observed to cause fraser syndrome. [10]
Fraser syndrome is an autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.
Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the PTEN gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer. Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available.
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the FOXC2 gene. FOXC2 is a member of the fork head box (FOX) family of transcription factors.
Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.
Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. FGFR2 is a receptor for fibroblast growth factor.
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.
Tumor protein p63, typically referred to as p63, also known as transformation-related protein 63 is a protein that in humans is encoded by the TP63 gene.
Fukutin-related protein (FKRP) is also known as FKRP_HUMAN, LGMD2I, MDC1C, MDDGA5, MDDGB5, and MDDGC5. FKRP can be located in the brain, cardiac muscle and skeletal muscle, and in cells it is found in the Golgi apparatus. Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.
Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene.
Usherin is a protein that in humans is encoded by the USH2A gene.
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.
Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.
Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.
Hyaluronan synthase 3 is an enzyme that in humans is encoded by the HAS3 gene.
Thrombospondin-4 is a protein that in humans is encoded by the THBS4 gene.
FRAS1-related extracellular matrix protein 2 is a protein that in humans is encoded by the FREM2 gene.
Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.
The family with sequence similarity 43 member A (FAM43A) gene, also known as; GCO3P195887, GC03P194406, GC03P191784, and NM_153690.3, codes for a 423 bp protein that is conserved in primates, and orthologs have been found in vertebrate and invertebrate species. Three transcripts have been identified, two protein coding isoforms, and a non-coding transcript (cAug10). Molecular weight of 45.8 kdal in the unphosphorylated state and isoelectric point of 6.1.
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