5aay: Difference between revisions

<StructureSection load='5aay' size='340' side='right'caption='[[5aay]]' scene=''>

<table><tr><td colspan='2'>[[5aay]] 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=5AAY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5AAY FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</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=5aay FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5aay OCA], [https://pdbe.org/5aay PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5aay RCSB], [https://www.ebi.ac.uk/pdbsum/5aay PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5aay ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/NEMO_HUMAN NEMO_HUMAN] Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:[https://omim.org/entry/300291 300291]; also known as hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID). Is a form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases.<ref>PMID:14651848</ref> <ref>PMID:16547522</ref> <ref>PMID:21606507</ref> <ref>PMID:19185524</ref> <ref>PMID:11047757</ref> <ref>PMID:11242109</ref> <ref>PMID:11224521</ref> <ref>PMID:12045264</ref> <ref>PMID:15100680</ref>  Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphedema (OLEDAID) [MIM:[https://omim.org/entry/300301 300301].  Defects in IKBKG are a cause of immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID) [MIM:[https://omim.org/entry/300584 300584]; also called immunodeficiency without anhidrotic ectodermal dysplasia, isolated immunodeficiency or pure immunodeficiency. Patients manifest immunodeficiency not associated with other abnormalities, and resulting in increased infection susceptibility. Patients suffer from multiple episodes of infectious diseases.<ref>PMID:15100680</ref> <ref>PMID:15356572</ref>  Defects in IKBKG are the cause of susceptibility to X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:[https://omim.org/entry/300636 300636]; also known as X-linked disseminated atypical mycobacterial infection type 1 or X-linked susceptibility to mycobacterial disease type 1. AMCBX1 is the X-linked recessive form of Mendelian susceptibility to mycobacterial disease (MSMD). MSMD is a congenital syndrome resulting in predisposition to clinical disease caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guerin vaccines and non-tuberculous, environmental mycobacteria. Patients are also susceptible to the more virulent species Mycobacterium tuberculosis.<ref>PMID:19185524</ref> <ref>PMID:16818673</ref>  Defects in IKBKG are the cause of recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:[https://omim.org/entry/300640 300640]. Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.<ref>PMID:16950813</ref>  Defects in IKBKG are the cause of incontinentia pigmenti (IP) [MIM:[https://omim.org/entry/308300 308300]; formerly designed familial incontinentia pigmenti type II (IP2). IP is a genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring.<ref>PMID:20010814</ref> <ref>PMID:17728323</ref> <ref>PMID:19185524</ref> <ref>PMID:16950813</ref> <ref>PMID:10839543</ref> <ref>PMID:19033441</ref> <ref>PMID:11590134</ref> <ref>PMID:15229184</ref>  

[https://www.uniprot.org/uniprot/NEMO_HUMAN NEMO_HUMAN] Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity (By similarity). Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination.<ref>PMID:14695475</ref> <ref>PMID:19854139</ref> <ref>PMID:20724660</ref>  

[[Category: Homo sapiens]]

[[Category: Allen MD]]

[[Category: Bloor S]]

[[Category: Bycroft M]]

[[Category: Holden D]]

[[Category: Karpiyevitch M]]

[[Category: Kaul A]]

[[Category: Komander D]]

[[Category: Matthews S]]

[[Category: Randow F]]

[[Category: Ravenhill B]]

[[Category: Thurston Tl]]