RASGRP1

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RASGRP1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RASGRP1, CALDAG-GEFI, CALDAG-GEFII, RASGRP, V, hRasGRP1, RAS guanyl releasing protein 1
External IDs MGI: 1314635 HomoloGene: 4195 GeneCards: RASGRP1
Gene location (Human)
Chromosome 15 (human)
Chr. Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for RASGRP1
Genomic location for RASGRP1
Band 15q14 Start 38,488,103 bp[1]
End 38,565,575 bp[1]
RNA expression pattern
PBB GE RASGRP1 205590 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001128602
NM_001306086
NM_005739

NM_011246

RefSeq (protein)

NP_001122074
NP_001293015
NP_005730

NP_035376

Location (UCSC) Chr 15: 38.49 – 38.57 Mb Chr 15: 117.28 – 117.34 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

RAS guanyl-releasing protein 1 is a protein that in humans is encoded by the RASGRP1 gene.[5][6][7]

Function[edit]

RAS guanyl nucleotide-releasing protein (RASGRP) is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation.[7]

Gene[edit]

Alternatively spliced transcript variants encoding different isoforms have been identified. The corresponding rat gene rbc7, which lacks a 5-prime exon, represents a 5-prime and 3-prime truncated version of a larger normal rat transcript that encodes a predicted 90-kD protein. This shorter transcript has not been found in humans.[7]

Clinical significance[edit]

In November 2016 a 12-year-old patient was hospitalized for repetitive infections. Scientists have assumed that a genetic problem might be the reason. More specifically, the genetic cause is a defect of the RASGRP1 gene which makes it inactive. .

RASGRP1 plays a role in the functions of natural killer cell dyneins. Since dyneins are motor proteins, their function is to circulate the elements inside the cells. Dr. Orange's laboratory studies have established a functional link between the defects of natural killer cells and dyneins, which in combination with Other observations led doctors to try the drug lenalidommide to treat the patient. The drug was able to reverse certain effects of the mutation RASGRP1.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172575 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027347 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Bottorff D, Ebinu J, Stone JC (May 1999). "RasGRP, a Ras activator: mouse and human cDNA sequences and chromosomal positions". Mamm Genome. 10 (4): 358–61. doi:10.1007/s003359901001. PMID 10087292. 
  6. ^ Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel JP, Chen EJ, Bany IA, Mochizuki N, Ashbacher A, Matsuda M, Housman DE, Graybiel AM (Nov 1998). "A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia". Proc Natl Acad Sci U S A. 95 (22): 13278–83. doi:10.1073/pnas.95.22.13278. PMC 23782Freely accessible. PMID 9789079. 
  7. ^ a b c "Entrez Gene: RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.