Ral Guanine Nucleotide Dissociation Stimulator-Like 1

Alternative Names

  • RGL1
  • RALGDS-Like Gene
  • RGL
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OMIM Number

605667

Gene Map Locus
1q25.3

Description

The RGL1 gene encodes Ral Guanine Nucleotide Dissociation Stimulator-Like 1, a protein that belongs to the Guanine Nucleotide Dissociation Stimulators (GDSs) family along with other proteins such as RALGDS.  GDSs are effectors of Ras-related GTPases and participate in various cell signaling pathways.  The function of the RGL1 protein is yet to be fully elucidated.  However, similar to RALGDS, it is believed to have Ral guanyl-nucleotide exchange factor activity and is involved in Ras and Ral signaling pathways.

Molecular Genetics

The RGL1 gene is located on the long arm of chromosome 1.  It spans a length of 92.5 kb of DNA and its coding sequence is spread across 21 exons.  The protein encoded by RGL1 has a molecular mass of 86.7 kDa and consists of 768 amino acids.  Alternative splicing gives rise to a transcript variant that encodes an additional isoform B of the RGL1 protein containing 803 amino acids.  While the gene is widely expressed in the human body, strong expression is seen in the heart, brain, kidney, spleen and testis.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) demonstrated the efficiency of genomic tools as a diagnostic test by analyzing 337 Intellectual Disability (ID) patients.  Exome sequencing uncovered the compound heterozygous mutations c.2333G>A (p.Arg778His) and c.965C>T (p.Thr322Ile) in the RGL1 gene of a 1-year old Saudi girl.  The patient suffered from global developmental delay, hypotonia, nystagmoid movements, myoclonic movements during sleep, chronic constipation and a hyperintense signal in the basal ganglia.  It was noted that RGL1 is enriched in the brain.  Furthermore, the T322I amino acid change occurred in the Ras-GEF domain and was predicted to affect RGL1 binding to Ral. 

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