ATN1 antibody - N-terminal region (ARP34153_P050)
- Known as:
- ATN1 (anti-) - N-terminal region (ARP34153_P050)
- Catalog number:
- arp34153_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ATN1 antibody - N-terminal region (ARP34153_P050)
Related genes to: ATN1 antibody - N-terminal region (ARP34153_P050)
- Gene:
- ATN1 NIH gene
- Name:
- atrophin 1
- Previous symbol:
- D12S755E, DRPLA
- Synonyms:
- B37
- Chromosome:
- 12p13.31
- Locus Type:
- gene with protein product
- Date approved:
- 1994-04-07
- Date modifiied:
- 2016-01-15
- Gene:
- RERE NIH gene
- Name:
- arginine-glutamic acid dipeptide repeats
- Previous symbol:
- ATN1L
- Synonyms:
- KIAA0458, ARP, ARG, DNB1
- Chromosome:
- 1p36.23
- Locus Type:
- gene with protein product
- Date approved:
- 2000-05-19
- Date modifiied:
- 2016-04-05
Related products to: ATN1 antibody - N-terminal region (ARP34153_P050)
Related articles to: ATN1 antibody - N-terminal region (ARP34153_P050)
- Vascular smooth muscle cells (VSMCs) are normally quiescent and non-migratory, regulating the contraction and relaxation of blood vessels to control the vascular tone. In response to arterial injury, these cells become active; they proliferate, secrete matrix proteins, and migrate, and thereby contribute importantly to the progression of several cardiovascular diseases. VSMC migration specifically supports atherosclerosis, restenosis after catheter-based intervention, transplant vasculopathy, and vascular remodeling during the formation of aneurysms. The atypical cadherin FAT1 is expressed robustly in activated VSMCs and promotes their migration. A positive role of FAT1 in the migration of other cell types, including neurons, fibroblasts, podocytes, and astrocyte progenitors, has also been described. In cancer biology, however, the effect of FAT1 on migration depends on the cancer type or context, as FAT1 either suppresses or enhances cancer cell migration and invasion. With this review, we describe what is known about FAT1's effects on cell migration as well as the factors that influence FAT1-dependent migration. In VSMCs, these factors include angiotensin II, which activates FAT1 expression and cell migration, and proteins of the Atrophin family: Atrophin-1 and the short isoform of Atrophin-2, which promote VSMC migration, and the long isoform of Atrophin-2, which exerts negative effects on FAT1-dependent VSMC migration. - Source: PubMed
Publication date: 2023/06/14
Riascos-Bernal Dario FRessa GaiaKorrapati AnishSibinga Nicholas E S - Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid "HX repeat" motif of ATN1. Each of the affected individuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable congenital anomalies. However, they lack the progressive symptoms typical of DRPLA neurodegeneration. To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. CHEDDA-related variants alter the particular structural features of the HX repeat motif, suggesting that CHEDDA results from perturbation of the structural and functional integrity of the HX repeat. We found several non-homologous human genes containing similar motifs of eight to 10 HX repeat sequences, including RERE, where disruptive variants in this motif have also been linked to a separate condition that causes neurocognitive and congenital anomalies. These findings suggest that perturbation of the HX motif might explain other Mendelian human conditions. - Source: PubMed
Publication date: 2019/02/28
Palmer Elizabeth EHong SeungbeomAl Zahrani FatemaHashem Mais OAleisa Fajr AAhmed Heba M JalalKandula TejaswiMacintosh RebeccaMinoche Andre EPuttick ClareGayevskiy VelimirDrew Alexander PCowley Mark JDinger MarcelRosenfeld Jill AXiao RuiCho Megan TYakubu Suliat FHenderson Lindsay BGuillen Sacoto Maria JBegtrup AmberHamad MuddathirShinawi MarwanAndrews Marisa VJones Marilyn CLindstrom KristinBristol Ruth EKayani SaimaSnyder MollyVillanueva María MercedesSchteinschnaider AngelesFaivre LaurenceThauvin ChristelVitobello AntonioRoscioli TonyKirk Edwin PBye AnnMerzaban JasmeenJaremko ŁukaszJaremko MariuszSachdev Rani KAlkuraya Fowzan SArold Stefan T - Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype-phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7. - Source: PubMed
Publication date: 2018/01/25
Jordan Valerie KFregeau BrieanaGe XiaoyanGiordano JessicaWapner Ronald JBalci Tugce BCarter Melissa TBernat John AMoccia Amanda NSrivastava AnshikaMartin Donna MBielas Stephanie LPappas JohnSvoboda Melissa DRio MarlèneBoddaert NathalieCantagrel VincentLewis Andrea MScaglia Fernando Kohler Jennefer NBernstein Jonathan ADries Annika MRosenfeld Jill ADeFilippo ColetteThorson WillaYang YapingSherr Elliott HBi WeiminScott Daryl A - The normal development and physiological functions of multicellular organisms are regulated by complex gene transcriptional networks that include myriad transcription factors, their associating coregulators, and multiple chromatin-modifying factors. Aberrant gene transcriptional regulation resulting from mutations among these elements often leads to developmental defects and diseases. This review article concentrates on the Atrophin family proteins, including vertebrate Atrophin-1 (ATN1), vertebrate arginine-glutamic acid dipeptide repeats protein (RERE), and Drosophila Atrophin (Atro), which we recently identified as nuclear receptor corepressors. Disruption of Atrophin-mediated pathways causes multiple developmental defects in mouse, zebrafish, and Drosophila, while an aberrant form of ATN1 and altered expression levels of RERE are associated with neurodegenerative disease and cancer in humans, respectively. We here provide an overview of current knowledge about these Atrophin proteins. We hope that this information on Atrophin proteins may help stimulate fresh ideas about how this newly identified class of nuclear receptor corepressors aids specific nuclear receptors and other transcriptional factors in regulating gene transcription, manifesting physiological effects, and causing diseases. - Source: PubMed
Publication date: 2008/10/31
Wang LeiTsai Chih-Cheng - NR2E3, a photoreceptor-specific nuclear receptor (PNR), represses cone-specific genes and activates several rod-specific genes. In humans, mutations in NR2E3 have been associated with the recessively-inherited enhanced short-wavelength sensitive S-cone syndrome (ESCS) and, recently, with autosomal dominant (ad) retinitis pigmentosa (RP) (adRP). In the present work, we describe two additional families affected by adRP that carry a heterozygous c.166G>A (p.G56R) mutation in the NR2E3 gene. Functional analysis determined the dominant negative activity of the p.G56R mutant protein as the molecular mechanism of adRP. Interestingly, in one pedigree, the most common causal variant for ESCS (p.R311Q) cosegregated with the adRP-linked p.G56R mutation, and the compound heterozygotes exhibited an ESCS-like phenotype, which in 1 of the 2 cases was strikingly "milder" than the patients carrying the p.G56R mutation alone. Impaired repression of cone-specific genes by the corepressors atrophin-1 (dentatorubral-pallidoluysian atrophy [DRPLA] gene product) and atrophin-2 (arginine-glutamic acid dipeptide repeat [RERE] protein) appeared to be a molecular mechanism mediating the beneficial effect of the p.R311Q mutation. Finally, the functional dominance of the p.R311Q variant to the p.G56R mutation is discussed. - Source: PubMed
Escher PascalGouras PeterRoduit RaphaëlTiab LeilaBolay SylvainDelarive TaniaChen ShimingTsai Chih-ChengHayashi MasanoriZernant JanaMerriam Joanna EMermod NicolasAllikmets RandoMunier Francis LSchorderet Daniel F