RALGAPA1

Last update 08 May 2025

Basic Info

Synonyms

DKFZp667F074, GAP-related-interacting partner to E12, GARNL1

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Introduction

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

100 Clinical Results associated with RALGAPA1

100 Translational Medicine associated with RALGAPA1

0 Patents (Medical) associated with RALGAPA1

Literatures (Medical) associated with RALGAPA1

01 Mar 2024·Animal Bioscience

Identification of genomic diversity and selection signatures in Luxi cattle using whole-genome sequencing data

Article

Author: Yi, Wenfeng ; Hu, Mingyue ; Yan, Shouqing ; Li, Feng ; Shi, Lulu

Objective: The objective of this study was to investigate the genetic diversity, population structure and whole-genome selection signatures of Luxi cattle to reveal its genomic characteristics in terms of meat and carcass traits, skeletal muscle development, body size, and other traits.Methods: To further analyze the genomic characteristics of Luxi cattle, this study sequenced the whole-genome of 16 individuals from the core conservation farm in Shandong region, and collected 174 published genomes of cattle for conjoint analysis. Furthermore, three different statistics (pi, Fst, and XP-EHH) were used to detect potential positive selection signatures related to selection in Luxi cattle. Moreover, gene ontology and Kyoto encyclopedia of genes and genomes pathway enrichment analyses were performed to reveal the potential biological function of candidate genes harbored in selected regions.Results: The results showed that Luxi cattle had high genomic diversity and low inbreeding levels. Using three complementary methods (pi, Fst, and XP-EHH) to detect the signatures of selection in the Luxi cattle genome, there were 2,941, 2,221 and 1,304 potentially selected genes identified, respectively. Furthermore, there were 45 genes annotated in common overlapping genomic regions covered 0.723 Mb, including PLAG1 zinc finger (PLAG1), dedicator of cytokinesis 3 (DOCK3), ephrin A2 (EFNA2), DAZ associated protein 1 (DAZAP1), Ral GTPase activating protein catalytic subunit alpha 1 (RALGAPA1), mediator complex subunit 13 (MED13), and decaprenyl diphosphate synthase subunit 2 (PDSS2), most of which were enriched in pathways related to muscle growth and differentiation and immunity.Conclusion: In this study, we provided a series of genes associated with important economic traits were found in positive selection regions, and a scientific basis for the scientific conservation and genetic improvement of Luxi cattle.

01 Jan 2024·International Journal of Genomics

Genome‐Wide Association Study for Test‐Day Milk Yield, Proteins, and Composition Traits of Crossbred Dairy Cattle in Ethiopia

Article

Author: Girma, A ; Meseret, S ; Rekik, B ; Besufekad, J ; Seid, M ; Mestawet, T

Identifying genetic regions and candidate genes that influence milk production traits is critical for understanding genetic inheritance and improving both the quality and quantity of milk in dairy cattle. Crossbred dairy cattle significantly contribute to increasing milk production and ensuring food security in the middle‐ and high‐altitude regions of Ethiopia. However, the genetic architecture underlying their milk yield and composition traits has not yet been thoroughly investigated. This study conducted a genome‐wide association study (GWAS) on 308 crossbred dairy cows from central, northeastern, and southern Ethiopia to identify genetic markers associated with key milk production traits. Using high‐density SNP chip data and the fixed and random model circulating probability unification (Farm CPU) method via the Memory‐efficient, Visualization‐enhanced, and Parallel‐accelerated R package (rMVP) (Version 1.0.7.), we analyzed traits including test‐day milk yield (TDMY), total protein (TP), casein (CN), whey (W), protein percentage (P), fat percentage (F), lactose percentage (L), total solids (TS), density (D), solids‐not‐fat (SNF), salt (S), and freezing point (FP). This study identified 16 significant SNPs associated with these traits, including rs41661899 on Chromosome 6, which was significantly associated with both TP and W, and rs42274954 on Chromosome 12, which was significantly associated with CN. Eight SNPs, such as rs43560693, rs109098713, rs111029661, rs134499665, rs133908307, rs133627532, rs42098411, and rs110066280, were found across multiple chromosomes (8, 10, 14, 15, 19, 21, 26, and 28, respectively) and were significantly associated with milk P. Additionally, SNPs rs110844447 and rs135995768 on Chromosomes 6 and 14 were significantly associated with D and FP, respectively. Three SNPs, including rs109564259, rs135552551, and rs41620904 on Chromosomes 6, 11, and 24, were significant associations with S. Candidate genes identified near and within these SNPs include TRAM1L1, DIAPH3, PEBP4, WDR89, BCAS3, RALGAPA1, HABP2, NRG3, HPSE, PCDH7, LINC02579, TRNAS‐GGA, and OR5CN1P. These findings enhance our understanding of the genetic architecture of milk‐related traits in Ethiopian dairy cattle and highlight the potential for marker‐assisted selection to improve milk production and composition in breeding programs.

01 Oct 2023·Neuromuscular Disorders

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

Author: Carlier, Robert-Yves ; Cojocaru, Andreea Iuliana ; Authier, François-Jérome ; Pennisi, Alessandra ; Severa, Gianmarco ; Barnerias, Christine ; Malfatti, Edoardo ; Jouni, Dima ; Desguerre, Isabelle ; Taglietti, Valentina ; Tachdjian, Gérard ; Verebi, Camille ; Scala, Marcello ; Metay, Corinne ; Tosca, Lucie ; Fiorillo, Chiara

Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood. Serum Creatine kinase level was normal. Whole-body muscle MRI showed thin muscles, and brain MRI was unremarkable. A deltoid muscle biopsy showed glycogen storage. WGS revealed a de novo 1.4 Mb-deletion of chromosome 14, confirmed by Array-CGH. This microdeletion causes the loss of ten genes including RALGAPA1, encoding for RalA, a regulator of glucose transporter 4 (GLUT4) expression at the membrane of myofibers. GLUT4 was overexpressed in patient's muscle. Here we highlight the importance to search for chromosomal alterations in the diagnostic workup of early onset myopathies.

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RALGAPA1

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