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MGP000927

UniProt Annotations

Entry Information
Gene Nameepidermal growth factor
Protein EntryEGF_HUMAN
UniProt IDP01133
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P01133-1; Sequence=Displayed; Name=2; IsoId=P01133-2; Sequence=VSP_041586; Name=3; IsoId=P01133-3; Sequence=VSP_047190; Note=No experimental confirmation available. Gene prediction based on cDNA data.;
DiseaseHypomagnesemia 4 (HOMG4) [MIM:611718]: A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes. {ECO:0000269|PubMed:17671655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. {ECO:0000269|PubMed:17671655}.
InteractionP00533:EGFR; NbExp=16; IntAct=EBI-640857, EBI-297353; Q01279:Egfr (xeno); NbExp=3; IntAct=EBI-640857, EBI-6296235;
PtmO-glycosylated with core 1-like and core 2-like glycans. It is uncertain if Ser-954 or Thr-955 is O-glycosylated. The modification here shows glycan heterogeneity: HexHexNAc (major) and Hex2HexNAc2 (minor). {ECO:0000269|PubMed:22171320}.
Sequence CautionSequence=AAR84237.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityContains 9 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 9 LDL-receptor class B repeats. {ECO:0000255|PROSITE-ProRule:PRU00461}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitInteracts with EGFR and promotes EGFR dimerization. Interacts with RHBDF2 (By similarity). Interacts with RHBDF1; may retain EGF in the endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation (ERAD). {ECO:0000250, ECO:0000269|PubMed:12297050, ECO:0000269|PubMed:12620237, ECO:0000269|PubMed:20837704, ECO:0000269|PubMed:21029725, ECO:0000269|PubMed:21439629}.
Tissue SpecificityExpressed in kidney, salivary gland, cerebrum and prostate. {ECO:0000269|PubMed:17671655}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/egf/";
Web ResourceName=Wikipedia; Note=Epidermal growth factor entry; URL="http://en.wikipedia.org/wiki/Epidermal_growth_factor";
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