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MGP001596

UniProt Annotations

Entry Information
Gene Nameinsulin-like growth factor binding protein 7
Protein EntryIBP7_HUMAN
UniProt IDQ16270
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16270-1; Sequence=Displayed; Name=2; IsoId=Q16270-2; Sequence=VSP_045297;
DiseaseRetinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) [MIM:614224]: An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction. {ECO:0000269|PubMed:21835307}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. {ECO:0000269|PubMed:8117260, ECO:0000269|PubMed:8939990}.
PtmN-glycosylated. {ECO:0000269|PubMed:8939990}.
Rna EditingModified_positions=78 {ECO:0000269|PubMed:18772245}, 95 {ECO:0000269|PubMed:18772245, ECO:0000269|PubMed:7694637}; Note=Partially edited. In the brain, position 78 is edited at about 55% and position 95 at about 31%.;
SimilarityContains 1 IGFBP N-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00653}.
SimilarityContains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule:PRU00798}.
Subcellular LocationSecreted.
SubunitMay interact with VPS24/CHMP3; the relevance of such interaction however remains unclear.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp7/";
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