HOME
BACK
Q96KG7 Proteins EGF-like domain Repeats
Uniprot ID:Q96KG7
Protein name: Multiple epidermal growth factor-like domains protein 10
Gene : MEGF10 KIAA1780
Protein Family:MEGF family
Squence Length : 1140
Sequnce
>Q96KG7 1141 MVISLNSCLSFICLLLCHWIGTASPLNLEDPNVCSHWESYSVTVQESYPHPFDQIYYTSCTDILNWFKCTRHRVSYRTAYRHGEKTMYRRKSQCCPGFYESGEMCVPHCADKCVHGRCIAPNTCQCEPGWGGTNCSSACDGDHWGPHCTSRCQCKNGALCNPITGACHCAAGFRGWRCEDRCEQGTYGNDCHQRCQCQNGATCDHVTGECRCPPGYTGAFCEDLCPPGKHGPQCEQRCPCQNGGVCHHVTGECSCPSGWMGTVCGQPCPEGRFGKNCSQECQCHNGGTCDAATGQCHCSPGYTGERCQDECPVGTYGVLCAETCQCVNGGKCYHVSGACLCEAGFAGERCEARLCPEGLYGIKCDKRCPCHLENTHSCHPMSGECACKPGWSGLYCNETCSPGFYGEACQQICSCQNGADCDSVTGKCTCAPGFKGIDCSTPCPLGTYGINCSSRCGCKNDAVCSPVDGSCTCKAGWHGVDCSIRCPSGTWGFGCNLTCQCLNGGACNTLDGTCTCAPGWRGEKCELPCQDGTYGLNCAERCDCSHADGCHPTTGHCRCLPGWSGVHCDSVCAEGRWGPNCSLPCYCKNGASCSPDDGICECAPGFRGTTCQRICSPGFYGHRCSQTCPQCVHSSGPCHHITGLCDCLPGFTGALCNEVCPSGRFGKNCAGICTCTNNGTCNPIDRSCQCYPGWIGSDCSQPCPPAHWGPNCIHTCNCHNGAFCSAYDGECKCTPGWTGLYCTQRCPLGFYGKDCALICQCQNGADCDHISGQCTCRTGFMGRHCEQKCPSGTYGYGCRQICDCLNNSTCDHITGTCYCSPGWKGARCDQAGVIIVGNLNSLSRTSTALPADSYQIGAIAGIIILVLVVLFLLALFIIYRHKQKGKESSMPAVTYTPAMRVVNADYTISGTLPHSNGGNANSHYFTNPSYHTLTQCATSPHVNNRDRMTVTKSKNNQLFVNLKNVNPGKRGPVGDCTGTLPADWKHGGYLNELGAFGLDRSYMGKSLKDLGKNSEYNSSNCSLSSSENPYATIKDPPVLIPKSSECGYVEMKSPARRDSPYAEINNSTSANRNVYEVEPTVSVVQGVFSNNGRLSQDPYDLPKNSHIPCHYDLLPVRDSSSSPKQEDSGGSSSNSSSSSE
Domains
DOMAIN 30 107 EMI DOMAIN 106 136 EGF-like 1 DOMAIN 144 179 EGF-like 2 DOMAIN 187 222 EGF-like 3 DOMAIN 230 265 EGF-like 4 DOMAIN 278 308 EGF-like 5 DOMAIN 316 351 EGF-like 6 DOMAIN 405 440 EGF-like 7 DOMAIN 453 483 EGF-like 8 DOMAIN 491 526 EGF-like 9 DOMAIN 539 569 EGF-like 10 DOMAIN 577 612 EGF-like 11 DOMAIN 665 700 EGF-like 12 DOMAIN 713 743 EGF-like 13 DOMAIN 751 786 EGF-like 14 DOMAIN 799 829 EGF-like 15
EGF-like sequence regions
106 - 136 HCADKCVHGRCIAPNTCQCEPGWGGTNCSSA 144 - 179 PHCTSRCQCKNGALCNPITGACHCAAGFRGWRCEDR 187 - 222 NDCHQRCQCQNGATCDHVTGECRCPPGYTGAFCEDL 230 - 265 PQCEQRCPCQNGGVCHHVTGECSCPSGWMGTVCGQP 278 - 308 ECQCHNGGTCDAATGQCHCSPGYTGERCQDE 316 - 351 VLCAETCQCVNGGKCYHVSGACLCEAGFAGERCEAR 405 - 440 EACQQICSCQNGADCDSVTGKCTCAPGFKGIDCSTP 453 - 483 RCGCKNDAVCSPVDGSCTCKAGWHGVDCSIR 491 - 526 FGCNLTCQCLNGGACNTLDGTCTCAPGWRGEKCELP 539 - 569 RCDCSHADGCHPTTGHCRCLPGWSGVHCDSV 577 - 612 PNCSLPCYCKNGASCSPDDGICECAPGFRGTTCQRI 665 - 700 KNCAGICTCTNNGTCNPIDRSCQCYPGWIGSDCSQP 713 - 743 TCNCHNGAFCSAYDGECKCTPGWTGLYCTQR 751 - 786 KDCALICQCQNGADCDHISGQCTCRTGFMGRHCEQK 799 - 829 ICDCLNNSTCDHITGTCYCSPGWKGARCDQA
Function
"Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). 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 (PubMed:20828568, PubMed:17643423). Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum (PubMed:27170117). Plays role in muscle cell proliferation, adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between skeletal muscle satellite cells proliferation and differentiation through regulation of the notch signaling pathway (PubMed:28498977). 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 (PubMed:17498693, PubMed:17643423, PubMed:20828568, PubMed:22101682, PubMed:27170117, PubMed:28498977)"
Mutation
927 927 N->A: Does not interact with GULP1 when associated with A-930 930 930 Y->A: Does not interact with GULP1 when associated with A-927 1030 1030 Y->D: Enhances cell proliferation 1030 1030 Y->F: Abolishes tyrosine phosphorylation
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"