2lob

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{{STRUCTURE_2lob| PDB=2lob | SCENE= }}
 
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===PDZ Domain of CAL (Cystic Fibrosis Transmembrane Regulator-Associated Ligand)===
 
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{{ABSTRACT_PUBMED_16331976}}
 
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==Disease==
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==PDZ Domain of CAL (Cystic Fibrosis Transmembrane Regulator-Associated Ligand)==
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[[http://www.uniprot.org/uniprot/GOPC_HUMAN GOPC_HUMAN]] Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity.<ref>PMID:12661006</ref> [[http://www.uniprot.org/uniprot/CFTR_HUMAN CFTR_HUMAN]] Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:[http://omim.org/entry/219700 219700]]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes.<ref>PMID:1695717</ref><ref>PMID:2236053</ref><ref>PMID:1710600</ref><ref>PMID:1284466</ref><ref>PMID:1284468</ref><ref>PMID:1284530</ref><ref>PMID:1284529</ref><ref>PMID:7680525</ref><ref>PMID:7683628</ref><ref>PMID:7683954</ref><ref>PMID:7505694</ref><ref>PMID:7504969</ref><ref>PMID:7522211</ref><ref>PMID:7513296</ref><ref>PMID:7525450</ref><ref>PMID:7520022</ref><ref>PMID:7524913</ref><ref>PMID:7524909</ref><ref>PMID:7517264</ref><ref>PMID:8081395</ref><ref>PMID:7544319</ref><ref>PMID:8522333</ref><ref>PMID:7537150</ref><ref>PMID:7541273</ref><ref>PMID:7581407</ref><ref>PMID:7543567</ref><ref>PMID:7541510</ref><ref>PMID:8800923</ref><ref>PMID:8829633</ref><ref>PMID:8723693</ref><ref>PMID:8723695</ref><ref>PMID:8956039</ref><ref>PMID:9101301</ref><ref>PMID:9222768</ref><ref>PMID:9375855</ref><ref>PMID:9401006</ref><ref>PMID:9443874</ref><ref>PMID:9521595</ref><ref>PMID:9921909</ref><ref>PMID:9736778</ref><ref>PMID:9482579</ref><ref>PMID:9554753</ref><ref>PMID:9452048</ref><ref>PMID:9452054</ref><ref>PMID:9452073</ref><ref>PMID:10094564</ref> Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:[http://omim.org/entry/277180 277180]]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.<ref>PMID:7529962</ref><ref>PMID:7539342</ref><ref>PMID:9067761</ref><ref>PMID:10651488</ref>[:]
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<StructureSection load='2lob' size='340' side='right'caption='[[2lob]]' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2lob]] is a 2 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=2LOB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LOB FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/GOPC_HUMAN GOPC_HUMAN]] Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes.<ref>PMID:11707463</ref><ref>PMID:14570915</ref><ref>PMID:15358775</ref> [[http://www.uniprot.org/uniprot/CFTR_HUMAN CFTR_HUMAN]] Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1.<ref>PMID:22178883</ref>
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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</td></tr>
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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=2lob FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2lob OCA], [https://pdbe.org/2lob PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2lob RCSB], [https://www.ebi.ac.uk/pdbsum/2lob PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2lob ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[2lob]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LOB OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/GOPC_HUMAN GOPC_HUMAN] Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity.<ref>PMID:12661006</ref>
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==Reference==
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== Function ==
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<ref group="xtra">PMID:016331976</ref><references group="xtra"/><references/>
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[https://www.uniprot.org/uniprot/GOPC_HUMAN GOPC_HUMAN] Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes.<ref>PMID:11707463</ref> <ref>PMID:14570915</ref> <ref>PMID:15358775</ref>
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[[Category: Channel-conductance-controlling ATPase]]
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Fellows, A.]]
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[[Category: Large Structures]]
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[[Category: Madden, D R.]]
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[[Category: Fellows A]]
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[[Category: Mierke, D F.]]
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[[Category: Madden DR]]
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[[Category: Piserchio, A.]]
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[[Category: Mierke DF]]
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[[Category: Peptide binding protein]]
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[[Category: Piserchio A]]
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[[Category: Structural protein-hydrolase complex]]
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Current revision

PDZ Domain of CAL (Cystic Fibrosis Transmembrane Regulator-Associated Ligand)

PDB ID 2lob

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