6gje

<table><tr><td colspan='2'>[[6gje]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6GJE OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6GJE FirstGlance]. <br>

</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">AMN, UNQ513/PRO1028 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), CUBN, IFCR ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6gje FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6gje OCA], [http://pdbe.org/6gje PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6gje RCSB], [http://www.ebi.ac.uk/pdbsum/6gje PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6gje ProSAT]</span></td></tr>

== Disease ==

[[http://www.uniprot.org/uniprot/AMNLS_HUMAN AMNLS_HUMAN]] Graesbeck-Imerslund disease. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/CUBN_HUMAN CUBN_HUMAN]] Grasbeck-Imerslund disease. Defects in CUBN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:[http://omim.org/entry/261100 261100]]; also known as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). RH-MGA1 is due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.<ref>PMID:10080186</ref> <ref>PMID:10887099</ref>

== Function ==

[[http://www.uniprot.org/uniprot/AMNLS_HUMAN AMNLS_HUMAN]] Necessary for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052). Required for normal CUBN-mediated protein transport in the kidney. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).[UniProtKB:Q99JB7]<ref>PMID:14576052</ref> <ref>PMID:12590260</ref> [[http://www.uniprot.org/uniprot/CUBN_HUMAN CUBN_HUMAN]] Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.<ref>PMID:9572993</ref> <ref>PMID:10371504</ref> <ref>PMID:11717447</ref> <ref>PMID:11606717</ref> <ref>PMID:14576052</ref>

[[Category: Human]]

[[Category: Andersen, C B.F]]

[[Category: Etzerodt, A]]

[[Category: Larsen, C]]

[[Category: Madsen, M]]

[[Category: Moestrup, S K]]

[[Category: Skjoedt, K]]

[[Category: Vitamin b12]]