View source for 8pia


==DNA binding domain of HNF-1A bound to P2-HNF4A promoter DNA variant (P2 -181G>T)==
<StructureSection load='8pia' size='340' side='right'caption='[[8pia]], [[Resolution|resolution]] 2.80&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8pia]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8PIA OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8PIA FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.8&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8pia FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8pia OCA], [https://pdbe.org/8pia PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8pia RCSB], [https://www.ebi.ac.uk/pdbsum/8pia PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8pia ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/HNF1A_HUMAN HNF1A_HUMAN] Defects in HNF1A are a cause of hepatic adenomas familial (HEPAF) [MIM:[https://omim.org/entry/142330 142330]. Hepatic adenomas are rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). Note=Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.  Defects in HNF1A are the cause of maturity-onset diabetes of the young type 3 (MODY3) [MIM:[https://omim.org/entry/600496 600496]; also symbolized MODY-3. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.<ref>PMID:12453420</ref> <ref>PMID:10966642</ref> <ref>PMID:8945470</ref> <ref>PMID:9166684</ref> <ref>PMID:9287053</ref> <ref>PMID:9392505</ref> <ref>PMID:9032114</ref> <ref>PMID:9075818</ref> <ref>PMID:9075819</ref> <ref>PMID:9097962</ref> <ref>PMID:9754819</ref> <ref>PMID:9626139</ref> <ref>PMID:10078571</ref> <ref>PMID:10102714</ref> <ref>PMID:10588527</ref> <ref>PMID:10482964</ref>   Defects in HNF1A are the cause of susceptibility to diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:[https://omim.org/entry/612520 612520]. IDDM20 is a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These features can result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.<ref>PMID:9313763</ref> <ref>PMID:9867222</ref> <ref>PMID:10333057</ref> 
== Function ==
[https://www.uniprot.org/uniprot/HNF1A_HUMAN HNF1A_HUMAN] Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.<ref>PMID:12453420</ref> <ref>PMID:10966642</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Kind L]]
[[Category: Kursula P]]
[[Category: Myllykoski M]]
[[Category: Raasakka A]]