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: 10125
Genetically Related Diseases
Disease Name References
Rheumatoid Arthritis
diabetes mellitus type 2
diabetes mellitus type 1
RNA expression pattern
PBB GE RASGRP1 205590 at tn.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_001122074.1
NP_001293015.1
NP_005730.2

NP_035376.1

Location (UCSC) Chr 15: 38.49 – 38.57 Mb Chr 2: 117.28 – 117.34 Mb
PubMed search [4] [5]
Wikidata
View/Edit Human View/Edit Mouse

RAS guanyl-releasing protein 1 is a protein that in humans is encoded by the RASGRP1 gene.[1][2][3]

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.[3]

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.[3]

Clinical significance[edit]

Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE).[3]

References[edit]

  1. ^ 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. 
  2. ^ 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 23782. PMID 9789079. 
  3. ^ a b c d "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.