background:
EGFLAM is a 1,017 amino acid secreted protein containing three EGF-like domains, two fibronectin type-III domains, and three laminin G-like domains. Colocalizing with bassoon, CtBP and dystroglycan in photoreceptor synaptic terminals, EGFLAM is involved in retinal photoreceptor ribbon synapse formation. EGFLAM may also promote matrix assembly and cell adhesion. Existing as five alternatively spliced isoforms, the gene encoding EGFLAM maps to human chromosome 5p13.2. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Cockayne syndrome, Treacher Collins syndrome, acute myelogenous leukemias and myelodysplastic syndrome are associated with genes present on chromosome 5.
Function:
Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness.
Subunit:
Interacts with DAG1 alpha-dystroglycan
Subcellular Location:
Secreted; extracellular space; extracellular matrix. Cell junction > synapse. Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals.
Post-translational modifications:
O-glycosylated; contains chondroitin sulfate and heparan sulfate.
Similarity:
Contains 3 EGF-like domains.
Contains 2 fibronectin type-III domains.
Contains 3 laminin G-like domains.
Database links:
Entrez Gene: 133584 Human
Entrez Gene: 268780 Mouse
Entrez Gene: 365691 Rat
Entrez Gene: 534427 Cow
SwissProt: A3KN33 Cow
SwissProt: Q63HQ2 Human
SwissProt: Q4VBE4 Mouse
SwissProt: B4F785 Rat
Unigene: 20103 Human
Unigene: 20648 Mouse
Unigene: 27713 Rat
Important Note:This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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