MEGF10
entrez
84466
canonical
uniprot
Q96KG7
canonical
ensembl
ENSG00000145794
resolver
ensp
ENSP00000274473
resolver
ensp
ENSP00000416284
resolver
ensp
ENSP00000423195
resolver
ensp
ENSP00000423354
resolver
genesymbol
MEGF10
resolver
genesymbol_syn
KIAA1780
resolver
hgnc
HGNC:29634
resolver
uniprot
Q68DE5
resolver
uniprot
Q8WUL3
resolver
uniprot_entry
MEG10_HUMAN
resolver
uniprot_sec
Q68DE5
resolver
uniprot_sec
Q8WUL3
resolver
amino_acid_sequence
MVISLNSCLSFICLLLCHWIGTASPLNLEDPNVCSHWESYSVTVQESYPHPFDQIYYTSCTDILNWFKCTRHRVSYRTAYRHGEKTMYRRKSQCCPGFYESGEMCVPHCADKCVHGRCIAPNTCQCEPGWGGTNCSSACDGDHWGPHCTSRCQCKNGALCNPITGACHCAAGFRGWRCEDRCEQGTYGNDCHQRCQCQNGATCDHVTGECRCPPGYTGAFCEDLCPPGKHGPQCEQRCPCQNGGVCHHVTGECSCPSGWMGTVCGQPCPEGRFGKNCSQECQCHNGGTCDAATGQCHCSPGYTGERCQDECPVGTYGVLCAETCQCVNGGKCYHVSGACLCEAGFAGERCEARLCPEGLYGIKCDKRCPCHLENTHSCHPMSGECACKPGWSGLYCNETCSPGFYGEACQQICSCQNGADCDSVTGKCTCAPGFKGIDCSTPCPLGTYGINCSSRCGCKNDAVCSPVDGSCTCKAGWHGVDCSIRCPSGTWGFGCNLTCQCLNGGACNTLDGTCTCAPGWRGEKCELPCQDGTYGLNCAERCDCSHADGCHPTTGHCRCLPGWSGVHCDSVCAEGRWGPNCSLPCYCKNGASCSPDDGICECAPGFRGTTCQRICSPGFYGHRCSQTCPQCVHSSGPCHHITGLCDCLPGFTGALCNEVCPSGRFGKNCAGICTCTNNGTCNPIDRSCQCYPGWIGSDCSQPCPPAHWGPNCIHTCNCHNGAFCSAYDGECKCTPGWTGLYCTQRCPLGFYGKDCALICQCQNGADCDHISGQCTCRTGFMGRHCEQKCPSGTYGYGCRQICDCLNNSTCDHITGTCYCSPGWKGARCDQAGVIIVGNLNSLSRTSTALPADSYQIGAIAGIIILVLVVLFLLALFIIYRHKQKGKESSMPAVTYTPAMRVVNADYTISGTLPHSNGGNANSHYFTNPSYHTLTQCATSPHVNNRDRMTVTKSKNNQLFVNLKNVNPGKRGPVGDCTGTLPADWKHGGYLNELGAFGLDRSYMGKSLKDLGKNSEYNSSNCSLSSSENPYATIKDPPVLIPKSSECGYVEMKSPARRDSPYAEINNSTSANRNVYEVEPTVSVVQGVFSNNGRLSQDPYDLPKNSHIPCHYDLLPVRDSSSSPKQEDSGGSSSNSSSSSE
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 10A, severe variant (CMYO10A) [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:0000269|PubMed:22101682, ECO:0000269|PubMed:23954233, ECO:0000269|PubMed:27170117, ECO:0000269|PubMed:28498977, ECO:0000269|Ref.16}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 10B, mild variant (CMYO10B) [MIM:620249]: An autosomal recessive skeletal muscle disorder characterized by infantile or childhood onset of proximal and distal weakness of upper and lower limbs, facial weakness, areflexia, dysphagia, and respiratory distress. Muscle biopsy shows myopathic changes including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization. {ECO:0000269|PubMed:22371254, ECO:0000269|PubMed:23954233, ECO:0000269|PubMed:27170117, ECO:0000269|PubMed:27460346, ECO:0000269|PubMed:28498977, ECO:0000269|PubMed:29128256, ECO:0000269|PubMed:36349186}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:17643423, PubMed:20828568). 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, Ref.16). 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). {ECO:0000269|PubMed:17205124, ECO:0000269|PubMed:17498693, ECO:0000269|PubMed:17643423, ECO:0000269|PubMed:20828568, ECO:0000269|PubMed:22101682, ECO:0000269|PubMed:27170117, ECO:0000269|PubMed:28498977, ECO:0000269|Ref.16}.
uniprot
proteins
mass_dalton
122205
uniprot
proteins
mutagenesis
MUTAGEN 927; /note="N->A: Does not interact with GULP1; when associated with A-930."; /evidence="ECO:0000269|PubMed:17205124"; MUTAGEN 930; /note="Y->A: Does not interact with GULP1; when associated with A-927."; /evidence="ECO:0000269|PubMed:17205124"; MUTAGEN 1030; /note="Y->D: Enhances cell proliferation."; /evidence="ECO:0000269|PubMed:23954233"; MUTAGEN 1030; /note="Y->F: Abolishes tyrosine phosphorylation. Unable to enhance cell proliferation."; /evidence="ECO:0000269|PubMed:23954233
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues. Phosphorylation at Tyr-1030 may be important for muscle cell proliferation. {ECO:0000269|PubMed:17643423, ECO:0000269|PubMed:23954233}.; PTM: Ubiquitinated; mono- and polyubiquitinated forms are detected. {ECO:0000269|PubMed:17643423}.
uniprot
proteins
protein_family
MEGF family
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17205124
uniprot
proteins
pubmed
17498693
uniprot
proteins
pubmed
17643423
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20828568
uniprot
proteins
pubmed
22101682
uniprot
proteins
pubmed
22371254
uniprot
proteins
pubmed
23954233
uniprot
proteins
pubmed
27170117
uniprot
proteins
pubmed
27460346
uniprot
proteins
pubmed
28498977
uniprot
proteins
pubmed
29128256
uniprot
proteins
pubmed
36349186
uniprot
proteins
sequence_length
1140
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27170117}; Single-pass type I membrane protein. Cell projection, phagocytic cup {ECO:0000269|PubMed:17205124}. Note=Enriched at the sites of contact with apoptotic thymocyte cells (PubMed:17205124). 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 (PubMed:17498693). Colocalizes with ABCA1 in absence of any phagocytic challenge (PubMed:17205124). Does not localize within lamellipodia (PubMed:17498693). Does not localize with MEGF11 (PubMed:17498693). {ECO:0000269|PubMed:17205124, ECO:0000269|PubMed:17498693}.
uniprot
proteins
transmembrane_region
TRANSMEM 858..878; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins