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==Structural and ligand binding properties of the Bateman domain of human magnesium transporters CNNM2 and CNNM4==
==Structural and ligand binding properties of the Bateman domain of human magnesium transporters CNNM2 and CNNM4==
<StructureSection load='4iy3' size='340' side='right' caption='[[4iy3]], [[Resolution|resolution]] 3.60&Aring;' scene=''>
<StructureSection load='4iy3' size='340' side='right' caption='[[4iy3]], [[Resolution|resolution]] 3.60&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[4iy3]] 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=4IY3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4IY3 FirstGlance]. <br>
<table><tr><td colspan='2'>[[4iy3]] 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=4IY3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4IY3 FirstGlance]. <br>
</td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4iy0|4iy0]], [[4iy2|4iy2]], [[4iy4|4iy4]]</td></tr>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4iy0|4iy0]], [[4iy2|4iy2]], [[4iy4|4iy4]]</td></tr>
<tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CNNM4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CNNM4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4iy3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4iy3 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4iy3 RCSB], [http://www.ebi.ac.uk/pdbsum/4iy3 PDBsum]</span></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=4iy3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4iy3 OCA], [http://pdbe.org/4iy3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4iy3 RCSB], [http://www.ebi.ac.uk/pdbsum/4iy3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4iy3 ProSAT]</span></td></tr>
<table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/CNNM4_HUMAN CNNM4_HUMAN]] Jalili syndrome. The disease is caused by mutations affecting the gene represented in this entry.  
[[http://www.uniprot.org/uniprot/CNNM4_HUMAN CNNM4_HUMAN]] Jalili syndrome. The disease is caused by mutations affecting the gene represented in this entry.  
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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
[[Category: Accardi, A.]]
[[Category: Accardi, A]]
[[Category: Corral-Rodriguez, M A.]]
[[Category: Corral-Rodriguez, M A]]
[[Category: Diercks, T.]]
[[Category: Diercks, T]]
[[Category: Encinar, J A.]]
[[Category: Encinar, J A]]
[[Category: Ereno-Orbea, J.]]
[[Category: Ereno-Orbea, J]]
[[Category: Gomez-Garcia, I.]]
[[Category: Gomez-Garcia, I]]
[[Category: Martinez-Cruz, L A.]]
[[Category: Martinez-Cruz, L A]]
[[Category: Muller, D.]]
[[Category: Muller, D]]
[[Category: Oyenarte, I.]]
[[Category: Oyenarte, I]]
[[Category: Spiwok, V.]]
[[Category: Spiwok, V]]
[[Category: Stuiver, M.]]
[[Category: Stuiver, M]]
[[Category: Terashima, H.]]
[[Category: Terashima, H]]
[[Category: Cbs domain]]
[[Category: Cbs domain]]
[[Category: Cytosol]]
[[Category: Cytosol]]
[[Category: Magnesium transport]]
[[Category: Magnesium transport]]
[[Category: Metal transport]]
[[Category: Metal transport]]

Latest revision as of 17:21, 11 August 2016

Structural and ligand binding properties of the Bateman domain of human magnesium transporters CNNM2 and CNNM4Structural and ligand binding properties of the Bateman domain of human magnesium transporters CNNM2 and CNNM4

Structural highlights

4iy3 is a 4 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:CNNM4 (HUMAN)
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[CNNM4_HUMAN] Jalili syndrome. The disease is caused by mutations affecting the gene represented in this entry.

Function

[CNNM4_HUMAN] Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function.[1] [2]

References

  1. ↑ Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Megarbane A, Schorderet DF. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009, Feb 5. PMID:19200527 doi:http://dx.doi.org/10.1016/j.ajhg.2009.01.006
  2. ↑ Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009, Feb 5. PMID:19200525 doi:http://dx.doi.org/10.1016/j.ajhg.2009.01.009

4iy3, resolution 3.60Å

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