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Entry version 142 (11 Dec 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Multiple epidermal growth factor-like domains protein 10

Gene

MEGF10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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, Ref. 14). 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).8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion, Myogenesis, Phagocytosis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Multiple epidermal growth factor-like domains protein 10Imported
Short name:
Multiple EGF-like domains protein 10Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MEGF10Imported
Synonyms:KIAA1780
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000145794.16

Human Gene Nomenclature Database

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HGNCi
HGNC:29634 MEGF10

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612453 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96KG7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 857ExtracellularSequence analysisAdd BLAST832
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei858 – 878HelicalSequence analysisAdd BLAST21
Topological domaini879 – 1140CytoplasmicSequence analysisAdd BLAST262

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06746971R → W in EMARDD; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs387907074EnsemblClinVar.1
Natural variantiVAR_067470326C → R in EMARDD; slightly decreased tyrosine phosphorylation; slightly reduced apoptotic cell engulfement by astrocytes; no effect on cell membrane location; no effect on binding to C1q; no effect on myoblasts migration and proliferation; no effect on interaction with NOTCH1. 5 PublicationsCorresponds to variant dbSNP:rs387907073EnsemblClinVar.1
Natural variantiVAR_067471774C → R in EMARDD; also found in a patient with MEGF10 myopathy; impairs tyrosine phosphorylation; no effect on cell membrane location; impairs binding to C1q; reduced apoptotic cell engulfement by astrocytes by 50%; reduced myoblast migration and proliferation; decreased interaction with NOTCH1; no effect on NOTCH1 nuclear location. 6 PublicationsCorresponds to variant dbSNP:rs387907072EnsemblClinVar.1
An adult onset form of MEG10 myopathy, a condition characterized by muscle weakness and respiratory distress. Additional features include a palatal midline ridge, bilateral scapular winging, pes cavus, lumbar lordosis and protruded abdomen. Muscle weakness is proximal more than distal with diffusely absent deep tendon reflexes. Affected individuals become ventilator-dependent and have poor exercise tolerance. Muscle biopsies from affected individuals show myopathic changes such as fiber atrophy and the presence of core-like structures. Prior to onset of symptoms, affected individuals do not display any significant respiratory or motor symptoms.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi927N → A: Does not interact with GULP1; when associated with A-930. 1 Publication1
Mutagenesisi930Y → A: Does not interact with GULP1; when associated with A-927. 1 Publication1
Mutagenesisi1030Y → D: Enhances cell proliferation. 1 Publication1
Mutagenesisi1030Y → F: Abolishes tyrosine phosphorylation. Unable to enhance cell proliferation. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
84466

MalaCards human disease database

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MalaCardsi
MEGF10
MIMi614399 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000145794

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA144596410

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96KG7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MEGF10

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74716908

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030973226 – 1140Multiple epidermal growth factor-like domains protein 10Add BLAST1115

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi34 ↔ 95Sequence analysis
Disulfide bondi60 ↔ 69Sequence analysis
Disulfide bondi94 ↔ 105Sequence analysis
Disulfide bondi109 ↔ 118By similarity
Disulfide bondi113 ↔ 124By similarity
Disulfide bondi126 ↔ 135By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi134N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi148 ↔ 160By similarity
Disulfide bondi154 ↔ 167By similarity
Disulfide bondi169 ↔ 178By similarity
Disulfide bondi191 ↔ 203By similarity
Disulfide bondi197 ↔ 210By similarity
Disulfide bondi212 ↔ 221By similarity
Disulfide bondi234 ↔ 246By similarity
Disulfide bondi240 ↔ 253By similarity
Disulfide bondi255 ↔ 264By similarity
Disulfide bondi281 ↔ 289By similarity
Disulfide bondi283 ↔ 296By similarity
Disulfide bondi298 ↔ 307By similarity
Disulfide bondi320 ↔ 332By similarity
Disulfide bondi326 ↔ 339By similarity
Disulfide bondi341 ↔ 350By similarity
Disulfide bondi409 ↔ 421By similarity
Disulfide bondi415 ↔ 428By similarity
Disulfide bondi430 ↔ 439By similarity
Disulfide bondi456 ↔ 464By similarity
Disulfide bondi458 ↔ 471By similarity
Disulfide bondi473 ↔ 482By similarity
Disulfide bondi495 ↔ 507By similarity
Glycosylationi496N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi501 ↔ 514By similarity
Disulfide bondi516 ↔ 525By similarity
Disulfide bondi542 ↔ 550By similarity
Disulfide bondi544 ↔ 557By similarity
Disulfide bondi559 ↔ 568By similarity
Disulfide bondi581 ↔ 593By similarity
Disulfide bondi587 ↔ 600By similarity
Disulfide bondi602 ↔ 611By similarity
Disulfide bondi669 ↔ 681By similarity
Disulfide bondi675 ↔ 688By similarity
Disulfide bondi690 ↔ 699By similarity
Disulfide bondi716 ↔ 724By similarity
Disulfide bondi718 ↔ 731By similarity
Disulfide bondi733 ↔ 742By similarity
Disulfide bondi755 ↔ 767By similarity
Disulfide bondi761 ↔ 774By similarity
Disulfide bondi776 ↔ 785By similarity
Disulfide bondi802 ↔ 810By similarity
Disulfide bondi804 ↔ 817By similarity
Disulfide bondi819 ↔ 828By similarity
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1030Phosphotyrosine; by SRC1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues. Phosphorylation at Tyr-1030 may be important for muscle cell proliferation.2 Publications
Ubiquitinated; mono- and polyubiquitinated forms are detected.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96KG7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96KG7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96KG7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96KG7

PeptideAtlas

More...
PeptideAtlasi
Q96KG7

PRoteomics IDEntifications database

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PRIDEi
Q96KG7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77067 [Q96KG7-1]
77068 [Q96KG7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96KG7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96KG7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000145794 Expressed in 154 organ(s), highest expression level in globus pallidus

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96KG7 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homopolymer (Probable).

Interacts with GULP1 and ABCA1.

Interacts with AP2M1 (PubMed:17643423). Does not interact with MEGF11 (PubMed:17498693). Binds with high affinity to complement C1q (PubMed:27170117).

Interacts (via the cytoplasmic domain) with NOTCH1 (via NICD domain) (PubMed:28498977).

5 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124099, 7 interactors

Protein interaction database and analysis system

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IntActi
Q96KG7, 26 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000274473

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96KG7 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96KG7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 107EMIPROSITE-ProRule annotationAdd BLAST78
Domaini106 – 136EGF-like 1PROSITE-ProRule annotationAdd BLAST31
Domaini144 – 179EGF-like 2PROSITE-ProRule annotationAdd BLAST36
Domaini187 – 222EGF-like 3PROSITE-ProRule annotationAdd BLAST36
Domaini230 – 265EGF-like 4PROSITE-ProRule annotationAdd BLAST36
Domaini278 – 308EGF-like 5PROSITE-ProRule annotationAdd BLAST31
Domaini316 – 351EGF-like 6PROSITE-ProRule annotationAdd BLAST36
Domaini405 – 440EGF-like 7PROSITE-ProRule annotationAdd BLAST36
Domaini453 – 483EGF-like 8PROSITE-ProRule annotationAdd BLAST31
Domaini491 – 526EGF-like 9PROSITE-ProRule annotationAdd BLAST36
Domaini539 – 569EGF-like 10PROSITE-ProRule annotationAdd BLAST31
Domaini577 – 612EGF-like 11PROSITE-ProRule annotationAdd BLAST36
Domaini665 – 700EGF-like 12PROSITE-ProRule annotationAdd BLAST36
Domaini713 – 743EGF-like 13PROSITE-ProRule annotationAdd BLAST31
Domaini751 – 786EGF-like 14PROSITE-ProRule annotationAdd BLAST36
Domaini799 – 829EGF-like 15PROSITE-ProRule annotationAdd BLAST31

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 857Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern1 PublicationAdd BLAST857
Regioni945 – 1140Necessary for formation of large intracellular vacuolesAdd BLAST196

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1119 – 1139Ser-richAdd BLAST21

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The EMI and EGF-like domains work in concert to promote self-assembly.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MEGF family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1218 Eukaryota
ENOG410XQWV LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157703

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294130

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96KG7

Identification of Orthologs from Complete Genome Data

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OMAi
QDGTYGM

Database of Orthologous Groups

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OrthoDBi
561378at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96KG7

TreeFam database of animal gene trees

More...
TreeFami
TF332598

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR011489 EMI_domain
IPR002049 Laminin_EGF

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12661 hEGF, 6 hits
PF00053 Laminin_EGF, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 17 hits
SM00180 EGF_Lam, 14 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 17 hits
PS01186 EGF_2, 17 hits
PS50026 EGF_3, 15 hits
PS51041 EMI, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96KG7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVISLNSCLS FICLLLCHWI GTASPLNLED PNVCSHWESY SVTVQESYPH
60 70 80 90 100
PFDQIYYTSC TDILNWFKCT RHRVSYRTAY RHGEKTMYRR KSQCCPGFYE
110 120 130 140 150
SGEMCVPHCA DKCVHGRCIA PNTCQCEPGW GGTNCSSACD GDHWGPHCTS
160 170 180 190 200
RCQCKNGALC NPITGACHCA AGFRGWRCED RCEQGTYGND CHQRCQCQNG
210 220 230 240 250
ATCDHVTGEC RCPPGYTGAF CEDLCPPGKH GPQCEQRCPC QNGGVCHHVT
260 270 280 290 300
GECSCPSGWM GTVCGQPCPE GRFGKNCSQE CQCHNGGTCD AATGQCHCSP
310 320 330 340 350
GYTGERCQDE CPVGTYGVLC AETCQCVNGG KCYHVSGACL CEAGFAGERC
360 370 380 390 400
EARLCPEGLY GIKCDKRCPC HLENTHSCHP MSGECACKPG WSGLYCNETC
410 420 430 440 450
SPGFYGEACQ QICSCQNGAD CDSVTGKCTC APGFKGIDCS TPCPLGTYGI
460 470 480 490 500
NCSSRCGCKN DAVCSPVDGS CTCKAGWHGV DCSIRCPSGT WGFGCNLTCQ
510 520 530 540 550
CLNGGACNTL DGTCTCAPGW RGEKCELPCQ DGTYGLNCAE RCDCSHADGC
560 570 580 590 600
HPTTGHCRCL PGWSGVHCDS VCAEGRWGPN CSLPCYCKNG ASCSPDDGIC
610 620 630 640 650
ECAPGFRGTT CQRICSPGFY GHRCSQTCPQ CVHSSGPCHH ITGLCDCLPG
660 670 680 690 700
FTGALCNEVC PSGRFGKNCA GICTCTNNGT CNPIDRSCQC YPGWIGSDCS
710 720 730 740 750
QPCPPAHWGP NCIHTCNCHN GAFCSAYDGE CKCTPGWTGL YCTQRCPLGF
760 770 780 790 800
YGKDCALICQ CQNGADCDHI SGQCTCRTGF MGRHCEQKCP SGTYGYGCRQ
810 820 830 840 850
ICDCLNNSTC DHITGTCYCS PGWKGARCDQ AGVIIVGNLN SLSRTSTALP
860 870 880 890 900
ADSYQIGAIA GIIILVLVVL FLLALFIIYR HKQKGKESSM PAVTYTPAMR
910 920 930 940 950
VVNADYTISG TLPHSNGGNA NSHYFTNPSY HTLTQCATSP HVNNRDRMTV
960 970 980 990 1000
TKSKNNQLFV NLKNVNPGKR GPVGDCTGTL PADWKHGGYL NELGAFGLDR
1010 1020 1030 1040 1050
SYMGKSLKDL GKNSEYNSSN CSLSSSENPY ATIKDPPVLI PKSSECGYVE
1060 1070 1080 1090 1100
MKSPARRDSP YAEINNSTSA NRNVYEVEPT VSVVQGVFSN NGRLSQDPYD
1110 1120 1130 1140
LPKNSHIPCH YDLLPVRDSS SSPKQEDSGG SSSNSSSSSE
Length:1,140
Mass (Da):122,205
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i45B2FA239423895A
GO
Isoform 2 (identifier: Q96KG7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     566-567: VH → LF
     568-1140: Missing.

Show »
Length:567
Mass (Da):60,797
Checksum:iCF2FB8CDEB7CF627
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB47409 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti543D → G in CAH18275 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06746971R → W in EMARDD; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs387907074EnsemblClinVar.1
Natural variantiVAR_036988206V → I. Corresponds to variant dbSNP:rs3812054EnsemblClinVar.1
Natural variantiVAR_067470326C → R in EMARDD; slightly decreased tyrosine phosphorylation; slightly reduced apoptotic cell engulfement by astrocytes; no effect on cell membrane location; no effect on binding to C1q; no effect on myoblasts migration and proliferation; no effect on interaction with NOTCH1. 5 PublicationsCorresponds to variant dbSNP:rs387907073EnsemblClinVar.1
Natural variantiVAR_067471774C → R in EMARDD; also found in a patient with MEGF10 myopathy; impairs tyrosine phosphorylation; no effect on cell membrane location; impairs binding to C1q; reduced apoptotic cell engulfement by astrocytes by 50%; reduced myoblast migration and proliferation; decreased interaction with NOTCH1; no effect on NOTCH1 nuclear location. 6 PublicationsCorresponds to variant dbSNP:rs387907072EnsemblClinVar.1
Natural variantiVAR_046377897P → L. Corresponds to variant dbSNP:rs13183625Ensembl.1
Natural variantiVAR_0819051030Y → C Probable disease-associated mutation found in a patient with MEGF10 myopathy. 1 PublicationCorresponds to variant dbSNP:rs1433266858Ensembl.1
Natural variantiVAR_0369891072R → K. Corresponds to variant dbSNP:rs17164935EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_029244566 – 567VH → LF in isoform 2. 1 Publication2
Alternative sequenceiVSP_029245568 – 1140Missing in isoform 2. 1 PublicationAdd BLAST573

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB058676 mRNA Translation: BAB47409.2 Different initiation.
CR749437 mRNA Translation: CAH18275.1
CH471062 Genomic DNA Translation: EAW62406.1
BC020198 mRNA Translation: AAH20198.1
BC152478 mRNA Translation: AAI52479.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4142.1 [Q96KG7-1]
CCDS78055.1 [Q96KG7-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001243474.1, NM_001256545.1 [Q96KG7-1]
NP_001295048.1, NM_001308119.1 [Q96KG7-2]
NP_001295050.1, NM_001308121.1 [Q96KG7-2]
NP_115822.1, NM_032446.2 [Q96KG7-1]
XP_011541996.1, XM_011543694.1 [Q96KG7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000274473; ENSP00000274473; ENSG00000145794 [Q96KG7-1]
ENST00000418761; ENSP00000416284; ENSG00000145794 [Q96KG7-2]
ENST00000503335; ENSP00000423354; ENSG00000145794 [Q96KG7-1]
ENST00000508365; ENSP00000423195; ENSG00000145794 [Q96KG7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84466

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84466

UCSC genome browser

More...
UCSCi
uc003kuh.5 human [Q96KG7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058676 mRNA Translation: BAB47409.2 Different initiation.
CR749437 mRNA Translation: CAH18275.1
CH471062 Genomic DNA Translation: EAW62406.1
BC020198 mRNA Translation: AAH20198.1
BC152478 mRNA Translation: AAI52479.1
CCDSiCCDS4142.1 [Q96KG7-1]
CCDS78055.1 [Q96KG7-2]
RefSeqiNP_001243474.1, NM_001256545.1 [Q96KG7-1]
NP_001295048.1, NM_001308119.1 [Q96KG7-2]
NP_001295050.1, NM_001308121.1 [Q96KG7-2]
NP_115822.1, NM_032446.2 [Q96KG7-1]
XP_011541996.1, XM_011543694.1 [Q96KG7-1]

3D structure databases

SMRiQ96KG7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124099, 7 interactors
IntActiQ96KG7, 26 interactors
STRINGi9606.ENSP00000274473

PTM databases

iPTMnetiQ96KG7
PhosphoSitePlusiQ96KG7

Polymorphism and mutation databases

BioMutaiMEGF10
DMDMi74716908

Proteomic databases

EPDiQ96KG7
jPOSTiQ96KG7
MassIVEiQ96KG7
PaxDbiQ96KG7
PeptideAtlasiQ96KG7
PRIDEiQ96KG7
ProteomicsDBi77067 [Q96KG7-1]
77068 [Q96KG7-2]

Genome annotation databases

EnsembliENST00000274473; ENSP00000274473; ENSG00000145794 [Q96KG7-1]
ENST00000418761; ENSP00000416284; ENSG00000145794 [Q96KG7-2]
ENST00000503335; ENSP00000423354; ENSG00000145794 [Q96KG7-1]
ENST00000508365; ENSP00000423195; ENSG00000145794 [Q96KG7-2]
GeneIDi84466
KEGGihsa:84466
UCSCiuc003kuh.5 human [Q96KG7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84466
DisGeNETi84466
EuPathDBiHostDB:ENSG00000145794.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MEGF10
HGNCiHGNC:29634 MEGF10
MalaCardsiMEGF10
MIMi612453 gene
614399 phenotype
neXtProtiNX_Q96KG7
OpenTargetsiENSG00000145794
Orphaneti439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
PharmGKBiPA144596410

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1218 Eukaryota
ENOG410XQWV LUCA
GeneTreeiENSGT00940000157703
HOGENOMiHOG000294130
InParanoidiQ96KG7
OMAiQDGTYGM
OrthoDBi561378at2759
PhylomeDBiQ96KG7
TreeFamiTF332598

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MEGF10 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MEGF10

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
84466
PharosiQ96KG7 Tbio

Protein Ontology

More...
PROi
PR:Q96KG7
RNActiQ96KG7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145794 Expressed in 154 organ(s), highest expression level in globus pallidus
GenevisibleiQ96KG7 HS

Family and domain databases

InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR011489 EMI_domain
IPR002049 Laminin_EGF
PfamiView protein in Pfam
PF12661 hEGF, 6 hits
PF00053 Laminin_EGF, 5 hits
SMARTiView protein in SMART
SM00181 EGF, 17 hits
SM00180 EGF_Lam, 14 hits
PROSITEiView protein in PROSITE
PS00022 EGF_1, 17 hits
PS01186 EGF_2, 17 hits
PS50026 EGF_3, 15 hits
PS51041 EMI, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMEG10_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96KG7
Secondary accession number(s): Q68DE5, Q8WUL3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: December 11, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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