EGF-containing fibulin-like extracellular matrix protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''EFEMP1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Gene
This gene encodes a member of the fibulin family of extracellular matrix
glycoproteins
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known a ...
. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant
gliomas
A glioma is a type of primary tumor, primary Neoplasm, tumor that starts in the glial cells of the Human brain, brain or spinal cord. They are Malignancy, malignant but some are extremely slow to develop. Gliomas comprise about 30% of all brain ...
and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy and with predisposition to
hernias
A hernia (: hernias or herniae, from Latin, meaning 'rupture') is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the i ...
. Alternatively spliced transcript variants that encode the same protein have been described.
rovided by RefSeq, Nov 2009 This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same
extracellular matrix
In biology, the extracellular matrix (ECM), also called intercellular matrix (ICM), is a network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide structural and bio ...
protein.
Clinical significance
Mutations in this gene are associated with
Doyne honeycomb retinal dystrophy and with predisposition to
hernias
A hernia (: hernias or herniae, from Latin, meaning 'rupture') is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the i ...
.
EFEMP1/Fibulin-3 has recently been reported as a potential biomarker to facilitate the identification of patients with pleural mesothelioma.
Interactions
EFEMP1 has been shown to
interact with
ARAF
Serine/threonine-protein kinase A-Raf, or simply A-Raf, is an enzyme that in humans is encoded by the ''ARAF'' gene. It belongs to the Raf kinase family of serine/threonine-specific protein kinases, which also includes Raf-1 and B-Raf. A-Raf is ...
.
References
Further reading
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