Ask about this productRelated genes to: ARV1 antibody
- Gene:
- ARV1 NIH gene
- Name:
- ARV1 homolog, fatty acid homeostasis modulator
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1q42.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-17
- Date modifiied:
- 2015-09-25
Related products to: ARV1 antibody
Related articles to: ARV1 antibody
- The ubiquitous ARV1 gene shows significant functional conservation across eukaryotes. Saccharomyces cerevisiae Arv1 is implicated in several cellular processes, including lipid/sterol homeostasis, morphogenesis, and drug resistance. Human and fungal ARV1 functionally complement S. cerevisiae ARV1, and arv1Δ is rescued by the overexpression of some subunits of the GPI-N-acetylglucosaminyltransferase (GPI-GnT), which catalyzes the first GPI biosynthetic step. Human and Trypanosoma brucei Arv1 homologs co-immunoprecipitate with different GPI-GnT subunits. Based on these previous reports, we hypothesized a cross talk between Candida albicans ARV1 and the first step of GPI biosynthesis. Using super-resolution radial fluctuation (SRRF) analysis of co-localization data, co-immunoprecipitation assays, and acceptor-photobleaching FRET studies, we show that CaArv1 physically interacts with the GPI-GnT. It also regulates the expression of the GPI-GnT subunits via the epigenetic modulator, Rtt109. Overexpressing GPI19 (which encodes a GPI-GnT subunit whose expression is repressed in Caarv1Δ/Δ) rescues its cell wall phenotype, sensitivity to azoles, and GPI-GnT activity without reversing the filamentation defect. A similar rescue is observed on downregulating GPI2 (encoding another GPI-GnT subunit, whose expression is upregulated in Caarv1Δ/Δ). Thus, transcriptional control rather than physical interaction appears to be the primary mechanism by which CaArv1 controls GPI-GnT. Overexpressing RAS1 restores all phenotypes, including filamentation, without restoring GPI-GnT activity. The filamentation defect of Caarv1Δ/Δ is independent of the GPI-GnT. CaArv1 transcriptionally regulates hyphae-specific transcription factors downstream of cAMP-PKA signaling (Efg1, Flo8) and repressors (Tup1, Nrg1) to modulate filamentation. The cross talk between CaArv1 and GPI-GnT has important implications for the virulence of C. albicans. - Source: PubMed
Publication date: 2025/08/13
Bharati MonikaSaini HarshitaThakran NehaKumar YatinShefali ShailjaYadav UshaSaun SunynaAnzar AaishaKomath Sneha Sudha - Colorectal cancer (CRC) is a highly lethal gastrointestinal malignancy with substantial global health implications. Although mitochondrial metabolism genes play a crucial role in CRC development, their prognostic significance remains unclear. - Source: PubMed
Publication date: 2025/07/08
Wang HouZhang KaiNing Guang - Familial adenomatous polyposis (FAP) is typically characterized by numerous adenomatous polyps that will inevitably progress to adenocarcinomas. To enhance the clinical management of colon adenocarcinoma (COAD), a deeper understanding of the molecular mechanisms driving malignant transformation in pre-cancerous adenomatous polyposis, as well as the identification of predictive biomarkers, is essential. - Source: PubMed
Publication date: 2025/06/17
Zhu Yu-ChengZhang JunLiu KunCheng Ya-BinJiang Wei - Genome-wide association studies (GWAS) have identified many quantitative trait loci (QTL) associated with complex traits, predominantly in non-coding regions, posing challenges in pinpointing the causal variants and their target genes. Three types of evidence can help identify the gene through which QTL acts: (1) proximity to the most significant GWAS variant, (2) correlation of gene expression with the trait, and (3) the gene's physiological role in the trait. However, there is still uncertainty about the success of these methods in identifying the correct genes. Here, we test the ability of these methods in a comparatively simple series of traits associated with the concentration of polar lipids in milk. We conducted single-trait GWAS for ~14 million imputed variants and 56 individual milk polar lipid (PL) phenotypes in 336 cows. A multi-trait meta-analysis of GWAS identified 10,063 significant SNPs at FDR ≤ 10% (P ≤ 7.15E-5). Transcriptome data from blood (~12.5K genes, 143 cows) and mammary tissue (~12.2K genes, 169 cows) were analyzed using the genetic score omics regression (GSOR) method. This method links observed gene expression to genetically predicted phenotypes and was used to find associations between gene expression and 56 PL phenotypes. GSOR identified 2,186 genes in blood and 1,404 in mammary tissue associated with at least one PL phenotype (FDR ≤ 1%). We partitioned the genome into non-overlapping windows of 100 Kb to test for overlap between GSOR-identified genes and GWAS signals. We found a significant overlap between these two datasets, indicating that GSOR-significant genes were more likely to be located within 100 Kb windows that include GWAS signals than those that do not (P = 0.01; odds ratio = 1.47). These windows included 70 significant genes expressed in mammary tissue and 95 in blood. Compared to all expressed genes in each tissue, these genes were enriched for lipid metabolism gene ontology (GO). That is, seven of the 70 significant mammary transcriptome genes (P < 0.01; odds ratio = 3.98) and five of the 95 significant blood genes (P < 0.10; odds ratio = 2.24) were involved in lipid metabolism GO. The candidate causal genes include DGAT1, ACSM5, SERINC5, ABHD3, CYP2U1, PIGL, ARV1, SMPD5, and NPC2, with some overlap between the two tissues. The overlap between GWAS, GSOR, and GO analyses suggests that together, these methods are more likely to identify genes mediating QTL, though their power remains limited, as reflected by modest odds ratios. Larger sample sizes would enhance the power of these analyses, but issues like linkage disequilibrium would remain. - Source: PubMed
Publication date: 2025/05/30
Ghoreishifar MohammadMacleod Iona MChamberlain Amanda JLiu ZhiqianLopdell Thomas JLittlejohn Mathew DXiang RuidongPryce Jennie EGoddard Michael E - The ARV1 gene produces a protein made up of 271 amino acids that helps transport fats across membranes within the cell's endoplasmic reticulum (ER), a key area involved in processing lipids. This protein is related to an enzyme called ACAT2, which is important for managing cholesterol and fat levels in the body. This protein features an N-terminal zinc-binding motif located in the cytosol, followed by multiple domains that span the ER membrane, and concludes with a C-terminus that terminates in the ER lumen. ARV1 deficiency clinically manifests as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38) in humans. In this report, we share three pediatric cases presenting with early-onset epileptic encephalopathy and significant developmental delay. Whole-exome sequencing (WES) identified two pathogenic ARV1 variants: p.Cys61Tyr (missense) and p.Phe144Argfs5* (frameshift), both predicted to severely disrupt protein structure and function. These findings add to what we know about how mutations in the ARV1 gene can lead to developmental and epileptic encephalopathy (DEE38), and they strengthen our understanding of the gene's role in brain development. The children in our report also show how widely the symptoms of ARV1-related conditions can vary from case to case. Their experiences highlight just how important early genetic testing can be, especially for young patients with unexplained seizures and developmental challenges. Our report contributes to understanding the spectrum of complex neurological conditions. By sharing these cases, we're adding to the growing knowledge about ARV1-related encephalopathies and reinforcing why this gene deserves a place in targeted epilepsy genetic panels. - Source: PubMed
Publication date: 2025/04/24
Buhusayen Feras A MajeedAlashraaf MohamedJadah Raafat Hamad Seroor H