3kq4

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Template:STRUCTURE 3kq4

Contents 1 Structure of Intrinsic Factor-Cobalamin bound to its receptor Cubilin 2 Disease 3 Function 4 About this Structure 5 Reference

Structure of Intrinsic Factor-Cobalamin bound to its receptor Cubilin

Template:ABSTRACT PUBMED 20237569

Disease

[IF_HUMAN] Defects in GIF are the cause of hereditary intrinsic factor deficiency (IFD) [MIM:261000]; also known as congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia.^[1]

Function

[IF_HUMAN] Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.

About this Structure

3kq4 is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

• Andersen CB, Madsen M, Storm T, Moestrup SK, Andersen GR. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. Nature. 2010 Mar 18;464(7287):445-8. PMID:20237569 doi:10.1038/nature08874

1. ↑ Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. Epub 2005 Feb 28. PMID:15738392 doi:0500517102