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Gigaxonin protein sequence

WebGiant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. In GAN, aggregates of intermediate filaments (IFs) represent the main pathological feature detected in neurons and other … WebSep 4, 2002 · By replacing sequences separating the transcription factor binding sites with randomized sequences of the same length, sets of new promoters with different strengths, spanning a 10-fold range of transcriptional activity in cell culture, was obtained. ... which encodes the gigaxonin protein. Gigaxonin is involved in the regulation, turnover, and ...

GAN gene: MedlinePlus Genetics

WebApr 12, 2024 · 1 INTRODUCTION. Gigaxonin is a ubiquitously expressed protein encoded by the GAN gene located on human chromosome 16q24.1. 1, 2 The lack or loss of function of gigaxonin causes giant axonal neuropathy (GAN), an autosomal recessive disorder. The GAN gene has more than 50 distinct loss of function mutations that cause the disorder. 3 … WebFeb 2, 2024 · Giant axonal neuropathy (GAN) is a severe and rare autosomal recessive neurodegenerative disorder of childhood affecting both the peripheral and central nervous systems (CNS). It is caused by mutations in the GAN (gigaxonin) gene linked to chromosome 16q24. Here, we present a 15-year-old male patient with GAN from a … nursery workers arrested 2022 https://fredstinson.com

UniProt

WebFeb 15, 2024 · Thus, the covalent ubiquitination of the Cherry-ATG16L1 protein was assessed after transfection with a His-Ubiquitin construct in presence or absence of Gigaxonin short interfering RNAs (siRNAs ... WebProtein knowledgebase. UniParc. Sequence archive. Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. UniRef. Sequence clusters. Proteomes. Protein sets from fully sequenced genomes. Annotation systems. Systems used to automatically annotate proteins with high accuracy: WebDistantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct … nursery worker education requirements

Entry - *605379 - GIGAXONIN; GAN - OMIM

Category:The instability of the BTB-KELCH protein Gigaxonin causes Giant …

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Gigaxonin protein sequence

Gigaxonin - an overview ScienceDirect Topics

WebNX_Q9H2C0 - GAN - Gigaxonin - Structures. Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB.

Gigaxonin protein sequence

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WebFeb 25, 2024 · The GAN gene encodes gigaxonin, which belongs to the BTB/kelch cytoskeleton protein family, contains an N-terminus BTB domain, a C-terminus kelch domain, and a BACK domain between the N and C terminuses. Gigaxonin has been proposed to be an E3 ligase substrate adaptor, which may be important for the turnover … WebDec 16, 2008 · PIRSF037037 Kelch-like_protein_gigaxonin 1 hit; PROSITE. View protein in PROSITE; PS50097 BTB 1 hit; Pfam. View protein in Pfam; PF07707 BACK 1 hit; …

WebJul 1, 2016 · Gigaxonin functions as an E3 ubiquitin ligase adaptor protein and mediates the ubiquitination and subsequent proteasomal degradation of the targeted proteins [20][21] [22]. Although several 3 ... WebOct 16, 2005 · Our study defines gigaxonin as a ubiquitin-scaffolding protein that recruits E1 and directs ubiquitin-mediated degradation of MAP1B-LC, a role critical to neuronal …

WebThis high volume of traffic is likely due to program-driven rather than interactive access, or the submission of queries on a large number of sequences. If you are making large batch queries, please write to our [email protected] public mailing list and inquire about more efficient ways to access our data. WebNov 22, 2005 · Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB) , a function disrupted by GAN-associated mutations. The substantial TBCB protein accumulation caused by impaired UPS may be a causative factor of cytoskeletal pathology in GAN. Our study provides important insight into pathogenesis of ...

Weba, Sequence alignment between human gigaxonin, mayven and ENC-1 proteins, and mouse Keap1 protein. Drosophila kelch protein, which is 59% identical to mayven, is not shown. Identical residues are ...

WebOct 31, 2024 · Giant axonal neuropathy (GAN) is a pediatric, hereditary, neurodegenerative disorder that affects both the central and peripheral nervous systems. It is caused by mutations in the GAN gene, which codes for the gigaxonin protein. Gigaxonin plays a role in intermediate filament (IF) turnover hence loss of function of this protein leads to IF … nitric infusionWebGigaxonin is a cytoplasmic protein containing a BTB domain and six Kelch repeats. It binds directly to the ubiquitin-activating enzyme E1 and controls the ubiquitin-mediated … nursery worker explore careersWebNov 16, 2016 · In silico mutation analysis provided conflicting predictions as to the functional outcome of the variant on the gigaxonin protein: PolyPhen-2 HumDiv and HumVar both predicted the variant to be benign with scores of 0.108 and 0.021 respectively, while SIFT and PROVEAN predicted the variant to be disease causing with scores of 0.017 and … nursery with white furnitureWebWith the first genetic variant identified in the short ESTaa306952, the full 1791 bp coding sequence was cloned and shown to encompass 11 exons. The novel protein, named Gigaxonin was shown to contain a BTB domain at its N-terminus and a Kelch domain, composed of 6 Kelch repetitions at its C-terminal end (Bomont et al., 2000; Figure 4A). nitric flowWebWe report here identification of the gene GAN, which encodes a novel, ubiquitously expressed protein we have named gigaxonin. We found one frameshift, four nonsense … nursery woman in blackWebDec 12, 2014 · p16 Protein and gigaxonin are associated with the ubiquitination of NFκB in cisplatin-induced senescence of cancer cells J Biol Chem. 2014 Dec 12;289 (50):34921 ... assays show that this modification is associated with the inhibition of NFκB interacting with its DNA binding sequences, leading to decreased expression of NFκB-transcribed ... nitric mechanism of actionWebNormal Function. The GAN gene provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a multi-step … nursery workers cv