InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MEGF10

Summary

InnateDB Protein

IDBP-39571.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MEGF10

Protein Name

multiple EGF-like-domains 10

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000274473

InnateDB Gene

IDBG-39569 (MEGF10)

Protein Structure

UniProt Annotation

Function

Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides. May also function in the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements. May play role in cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling pathway. {ECO:0000269PubMed:17498693, ECO:0000269PubMed:17643423, ECO:0000269PubMed:20828568, ECO:0000269PubMed:22101682}.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Basolateral cell membrane; Single-pass type I membrane protein. Cell projection, phagocytic cup. Note=Enriched at the sites of contact with apoptotic thymocyte cells (By similarity). Forms an irregular, mosaic-like adhesion pattern in region of the cell surface that becomes firmely fixed to the substrate. Expressed at the cell surface in clusters around cell corpses during engulfment. During the engulfment of apoptotic thymocytes, recruited at the bottom of the forming phagocytic cup. Colocalizes with ABCA1 in absence of any phagocytic challenge. Does not localize within lamellipodia. Does not localize with MEGF11. {ECO:0000250}.

Disease Associations

Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]: An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. {ECO:0000269PubMed:22101682, ECO:0000269PubMed:22371254}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004866	endopeptidase inhibitor activity
GO:0005515	protein binding

Biological Process

GO:0014719	satellite cell activation
GO:0014816	satellite cell differentiation
GO:0014841	satellite cell proliferation
GO:0034109	homotypic cell-cell adhesion
GO:0043654	recognition of apoptotic cell
GO:0048641	regulation of skeletal muscle tissue development
GO:0051147	regulation of muscle cell differentiation
GO:0055001	muscle cell development

Cellular Component

GO:0001891	phagocytic cup
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0042995	cell projection

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR002049 EGF-like, laminin
IPR011052 Proteinase/amylase inhibitor domain
IPR011489 EMI domain
IPR013111 EGF-like domain, extracellular

PFAM

PF00008
PF00053
PF07546
PF07974

PRINTS

PIRSF

SMART

SM00181
SM00180

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96KG7