1bnx

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[[Image:1bnx.gif|left|200px]]
 
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{{Structure
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==STRUCTURAL STUDIES ON THE EFFECTS OF THE DELETION IN THE RED CELL ANION EXCHANGER (BAND3, AE1) ASSOCIATED WITH SOUTH EAST ASIAN OVALOCYTOSIS.==
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|PDB= 1bnx |SIZE=350|CAPTION= <scene name='initialview01'>1bnx</scene>
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<StructureSection load='1bnx' size='340' side='right'caption='[[1bnx]]' scene=''>
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|SITE=
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== Structural highlights ==
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|LIGAND= <scene name='pdbligand=ACE:ACETYL GROUP'>ACE</scene>
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<table><tr><td colspan='2'>[[1bnx]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1BNX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1BNX FirstGlance]. <br>
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|ACTIVITY=
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR, 21 models</td></tr>
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|GENE=
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene></td></tr>
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}}
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1bnx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1bnx OCA], [https://pdbe.org/1bnx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1bnx RCSB], [https://www.ebi.ac.uk/pdbsum/1bnx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1bnx ProSAT]</span></td></tr>
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</table>
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'''STRUCTURAL STUDIES ON THE EFFECTS OF THE DELETION IN THE RED CELL ANION EXCHANGER (BAND3, AE1) ASSOCIATED WITH SOUTH EAST ASIAN OVALOCYTOSIS.'''
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== Disease ==
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[https://www.uniprot.org/uniprot/B3AT_HUMAN B3AT_HUMAN] Defects in SLC4A1 are the cause of elliptocytosis type 4 (EL4) [MIM:[https://omim.org/entry/109270 109270]. EL4 is a Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.<ref>PMID:1722314</ref> <ref>PMID:1538405</ref> Defects in SLC4A1 are the cause of spherocytosis type 4 (SPH4) [MIM:[https://omim.org/entry/612653 612653]; also known as hereditary spherocytosis type 4 (HS4). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal.<ref>PMID:8547122</ref> <ref>PMID:1378323</ref> <ref>PMID:7530501</ref> <ref>PMID:8943874</ref> <ref>PMID:8640229</ref> <ref>PMID:9207478</ref> <ref>PMID:9012689</ref> <ref>PMID:9233560</ref> <ref>PMID:9973643</ref> <ref>PMID:10580570</ref> <ref>PMID:10942416</ref> <ref>PMID:10745622</ref> <ref>PMID:11380459</ref> <ref>PMID:15813913</ref> <ref>PMID:16227998</ref> Defects in SLC4A1 are the cause of renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:[https://omim.org/entry/179800 179800]. A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:[https://omim.org/entry/611590 611590]. A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:[https://omim.org/entry/611590 611590]. A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
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== Function ==
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==Disease==
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[https://www.uniprot.org/uniprot/B3AT_HUMAN B3AT_HUMAN] Band 3 is the major integral glycoprotein of the erythrocyte membrane. Band 3 has two functional domains. Its integral domain mediates a 1:1 exchange of inorganic anions across the membrane, whereas its cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, and hemoglobin.
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Known diseases associated with this structure: Blood group, Diego OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Blood group, Froese , OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Blood group, Waldner OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Blood group, Wright OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Diabetes insipidus, nephrogenic OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538 300538]], Hemolytic anemia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Malaria, resistance to OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Nephrogenic syndrome of inappropriate antidiuresis OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538 300538]], Ovalocytosis OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Renal tubular acidosis, distal, AD OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Renal tubular acidosis, distal, AR OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]], Spherocytosis OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270 109270]]
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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==About this Structure==
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Check<jmol>
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1BNX is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/ ]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1BNX OCA].
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/bn/1bnx_consurf.spt"</scriptWhenChecked>
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==Reference==
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>
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Studies on the structure of a transmembrane region and a cytoplasmic loop of the human red cell anion exchanger (band 3, AE1)., Chambers EJ, Askin D, Bloomberg GB, Ring SM, Tanner MJ, Biochem Soc Trans. 1998 Aug;26(3):516-20. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/9765907 9765907]
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<text>to colour the structure by Evolutionary Conservation</text>
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[[Category: Single protein]]
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</jmolCheckbox>
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[[Category: Bloomberg, G B.]]
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1bnx ConSurf].
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[[Category: Chambers, E J.]]
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<div style="clear:both"></div>
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[[Category: Ring, S M.]]
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== References ==
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[[Category: Tanner, M J.A.]]
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<references/>
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[[Category: ACE]]
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__TOC__
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[[Category: human erythrocyte anion transporter]]
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</StructureSection>
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[[Category: nmr]]
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[[Category: Homo sapiens]]
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[[Category: synthetic peptide]]
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[[Category: Large Structures]]
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[[Category: transmembrane]]
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[[Category: Bloomberg GB]]
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[[Category: Chambers EJ]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 10:13:32 2008''
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[[Category: Ring SM]]
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[[Category: Tanner MJA]]

Current revision

STRUCTURAL STUDIES ON THE EFFECTS OF THE DELETION IN THE RED CELL ANION EXCHANGER (BAND3, AE1) ASSOCIATED WITH SOUTH EAST ASIAN OVALOCYTOSIS.

PDB ID 1bnx

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