Ask about this productRelated genes to: WDSUB1 Blocking Peptide
- Gene:
- WDSUB1 NIH gene
- Name:
- WD repeat, sterile alpha motif and U-box domain containing 1
- Previous symbol:
- WDSAM1
- Synonyms:
- UBOX6, FLJ36175
- Chromosome:
- 2q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-15
- Date modifiied:
- 2019-03-21
Related products to: WDSUB1 Blocking Peptide
Related articles to: WDSUB1 Blocking Peptide
- The ankle-link complex (ALC) consists of USH2A, WHRN, PDZD7, and ADGRV1 and plays an important role in hair cell development. At present, its architectural organization and signaling role remain unclear. By establishing Adgrv1 Y6236fsX1 mutant mice as a model of the deafness-associated human Y6244fsX1 mutation, the authors show here that the Y6236fsX1 mutation disrupts the interaction between adhesion G protein-coupled receptor V subfamily member 1 (ADGRV1) and other ALC components, resulting in stereocilia disorganization and mechanoelectrical transduction (MET) deficits. Importantly, ADGRV1 inhibits WHRN phosphorylation through regional cAMP-PKA signaling, which in turn regulates the ubiquitination and stability of USH2A via local signaling compartmentalization, whereas ADGRV1 Y6236fsX1 does not. Yeast two-hybrid screening identified the E3 ligase WDSUB1 that binds to WHRN and regulates the ubiquitination of USH2A in a WHRN phosphorylation-dependent manner. Further FlAsH-BRET assay, NMR spectrometry, and mutagenesis analysis provided insights into the architectural organization of ALC and interaction motifs at single-residue resolution. In conclusion, the present data suggest that ALC organization and accompanying local signal transduction play important roles in regulating the stability of the ALC. - Source: PubMed
Publication date: 2023/04/17
Guan YingDu Hai-BoYang ZhaoWang Yu-ZhuRen RuiLiu Wen-WenZhang ChaoZhang Jia-HaiAn Wen-TaoLi Na-NaZeng Xiao-XueLi JieSun Yi-XiaoWang Yan-FeiYang FanYang JunXiong WeiYu XiaoChai Ren-JieTu Xiao-MingSun Jin-PengXu Zhi-Gang - To explore the effect of WDSUB1 on dextran sulfate sodium (DSS)-induced inflammatory colon injury in mice and the underlying mechanism. - Source: PubMed
Wang SCui LLiu XLuo ZLi HPu J - Blood donors might develop iron deficiency as approximately 250 mg of iron is lost with every donation. Susceptibility to iron deficiency and low haemoglobin levels differs between individuals, which might be due to genetic variation. Therefore, the aim of this study was to investigate associations between single nucleotide polymorphisms (SNPs) and haemoglobin trajectories, haemoglobin levels and ferritin levels in blood donors. - Source: PubMed
Publication date: 2021/01/25
Timmer TiffanyTanck MichaelPenkett ChristopherStirrups KathleenGleadall Nicholasde Kort Wimvan der Schoot Ellenvan den Hurk Katja - Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues. The meta-analysis resulted in a list of 536 suggestive genome wide significant SNPs in or near 69 genes. Further interrogation with Pathway Analysis placed gait speed as a polygenic complex trait in five major networks. Subsequent eQTL analysis revealed several SNPs significantly associated with the expression of PRSS16, WDSUB1 and PTPRT, which in addition to the meta-analysis and pathway suggested that genetic effects on gait speed may occur through synaptic function and neuronal development pathways. No genome-wide significant signals for gait speed were identified from this moderately large sample of older adults, suggesting that more refined physical function phenotypes will be needed to identify the genetic basis of gait speed in aging. - Source: PubMed
Ben-Avraham DanKarasik DavidVerghese JoeLunetta Kathryn LSmith Jennifer AEicher John DVered RotemDeelen JorisArnold Alice MBuchman Aron STanaka ToshikoFaul Jessica DNethander MariaFornage MyriamAdams Hieab HMatteini Amy MCallisaya Michele LSmith Albert VYu LeiDe Jager Philip LEvans Denis AGudnason VilmundurHofman AlbertPattie AlisonCorley JanieLauner Lenore JKnopman Davis SParimi NeetaTurner Stephen TBandinelli StefaniaBeekman MarianGutman DanielleSharvit LitalMooijaart Simon PLiewald David CHouwing-Duistermaat Jeanine JOhlsson ClaesMoed MatthijsVerlinden Vincent JMellström Danvan der Geest Jos NKarlsson MagnusHernandez DenaMcWhirter RebekahLiu YongmeiThomson RussellTranah Gregory JUitterlinden Andre GWeir David RZhao WeiStarr John MJohnson Andrew DIkram M ArfanBennett David ACummings Steven RDeary Ian JHarris Tamara BKardia Sharon L RMosley Thomas HSrikanth Velandai KWindham Beverly GNewman Ann BWalston Jeremy DDavies GailEvans Daniel SSlagboom Eline PFerrucci LuigiKiel Douglas PMurabito Joanne MAtzmon Gil - The patterns of emergence and diversification of the families of ubiquitin ligases provide insights about the evolution of the eukaryotic ubiquitination system. U-box ubiquitin ligases (UULs) are proteins characterized by containing a peculiar protein domain known as U box. In this study, the origin of the animal UUL genes is described. - Source: PubMed
Publication date: 2010/10/27
Marín Ignacio