Homo sapiens Protein: MEGF10 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-475596.4 | ||||||||||||||||||
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 | ENSP00000423195 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR002049 EGF-like, laminin IPR011489 EMI domain IPR013111 EGF-like domain, extracellular |
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PFAM |
PF00008
PF00053 PF07546 PF07974 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00181
SM00180 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q96KG7 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q96KG7 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 84466 | ||||||||||||||||||
UniGene | Hs.438709 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:29634 | ||||||||||||||||||
OMIM | 612453 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 14384 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB058676 BC020198 BC152478 CH471062 CR749437 | ||||||||||||||||||
GenPept | AAH20198 AAI52479 BAB47409 CAH18275 EAW62406 | ||||||||||||||||||