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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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RASGRP1
RAS guanyl releasing protein 1
Chromosome 15 Β· 15q14
NCBI Gene: 10125Ensembl: ENSG00000172575.15HGNC: HGNC:9878UniProt: B2RA89
67PubMed Papers
22Diseases
0Drugs
30Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activitycalcium ion bindingzinc ion bindingidentical protein bindingimmunodeficiency 64type 2 diabetes mellitusrheumatoid arthritisdiabetes mellitus
✦AI Summary

RASGRP1 (RAS guanyl releasing protein 1) functions as a calcium- and diacylglycerol (DAG)-regulated guanine nucleotide exchange factor that specifically activates RAS proteins by catalyzing the exchange of bound GDP for GTP 1. This activation triggers the ERK/MAPK kinase cascade, which is crucial for cellular signaling 1. RASGRP1 plays essential roles in immune cell development and function, governing B-cell and T-cell differentiation, activation, and proliferation 1. The protein operates through compartmentalized signaling mechanisms, with activity detected on both plasma membrane and Golgi apparatus, involving PLCgamma-dependent pathways 2. In T-lymphocytes, RASGRP1 expression is regulated by transcriptional enhancer elements, where variants like rs11631591 interact with hnRNP-K protein to modulate expression levels 1. Disease relevance includes association with systemic lupus erythematosus, where increased RASGRP1 expression and ERK activity correlate with disease risk 1. RASGRP1 deficiency causes primary immunodeficiency with autoimmune lymphoproliferative syndrome-like phenotypes 3. The protein also shows involvement in cancer biology, particularly in glioblastoma where it promotes temozolomide resistance through RAS-GTP transformation 4, and in cutaneous squamous cell carcinoma where elevated expression triggers oncogenic changes in keratinocytes 5. Additionally, fine-mapping studies have implicated RASGRP1 variants in bipolar disorder susceptibility 6.

Sources cited
1
RASGRP1 functions as DAG-regulated GEF activating RAS via GDP/GTP exchange, governs ERK/MAPK cascade and immune cell development, with variants affecting SLE risk through hnRNP-K interactions
PMID: 31164884
2
RASGRP1 operates through compartmentalized signaling on plasma membrane and Golgi apparatus via PLCgamma-dependent pathways
PMID: 16551266
3
RASGRP1 deficiency causes primary immunodeficiency with autoimmune lymphoproliferative syndrome-like phenotypes
PMID: 34447369
4
RASGRP1 promotes temozolomide resistance in glioblastoma through RAS-GTP transformation
PMID: 38773970
5
Elevated RASGRP1 expression in cutaneous squamous cell carcinoma triggers oncogenic changes in keratinocytes
PMID: 33074128
6
RASGRP1 variants are implicated in bipolar disorder susceptibility through fine-mapping studies
PMID: 40562893
Disease Associationsβ“˜22
immunodeficiency 64Open Targets
0.72Strong
type 2 diabetes mellitusOpen Targets
0.55Moderate
rheumatoid arthritisOpen Targets
0.54Moderate
diabetes mellitusOpen Targets
0.53Moderate
hypothyroidismOpen Targets
0.52Moderate
systemic lupus erythematosusOpen Targets
0.52Moderate
immune system diseaseOpen Targets
0.48Moderate
Crohn's diseaseOpen Targets
0.47Moderate
ImmunodeficiencyOpen Targets
0.47Moderate
immunodeficiency diseaseOpen Targets
0.46Moderate
autoimmune diseaseOpen Targets
0.44Moderate
autoimmune thyroid diseaseOpen Targets
0.41Moderate
insomniaOpen Targets
0.41Moderate
thyroid diseaseOpen Targets
0.41Moderate
myxedemaOpen Targets
0.41Moderate
coronary artery diseaseOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.39Weak
major depressive disorderOpen Targets
0.38Weak
lymphatic system diseaseOpen Targets
0.37Weak
ulcerative colitisOpen Targets
0.36Weak
Immunodeficiency 64 with lymphoproliferationUniProt
Systemic lupus erythematosusUniProt
Pathogenic Variants30
NM_005739.4(RASGRP1):c.2196_2199del (p.Ser732_Leu733insTer)Pathogenic
not provided|Immunodeficiency 64
β˜…β˜…β˜†β˜†2025β†’ Residue 732
NM_005739.4(RASGRP1):c.1418_1428+3delLikely pathogenic
Immunodeficiency 64|not provided
β˜…β˜…β˜†β˜†2025
NM_005739.4(RASGRP1):c.241C>T (p.Arg81Ter)Pathogenic
Immunodeficiency 64|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_005739.4(RASGRP1):c.327-1C>GPathogenic
Immunodeficiency 64
β˜…β˜…β˜†β˜†2020
NM_005739.4(RASGRP1):c.1720+1G>APathogenic
Immunodeficiency 64
β˜…β˜†β˜†β˜†2025
NM_005739.4(RASGRP1):c.1720+2T>CPathogenic
Immunodeficiency 64
β˜…β˜†β˜†β˜†2025
NM_005739.4(RASGRP1):c.811C>T (p.Arg271Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 271
NM_005739.4(RASGRP1):c.1232_1233del (p.His411fs)Pathogenic
Immunodeficiency 64
β˜…β˜†β˜†β˜†2025β†’ Residue 411
NM_005739.4(RASGRP1):c.1324-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_005739.4(RASGRP1):c.353C>A (p.Ser118Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 118
NM_005739.4(RASGRP1):c.1633C>T (p.Gln545Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 545
NM_005739.4(RASGRP1):c.1725C>A (p.Cys575Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 575
NM_005739.4(RASGRP1):c.219dup (p.Asp74Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 74
NM_005739.4(RASGRP1):c.521+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_005739.4(RASGRP1):c.865C>T (p.Gln289Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 289
NM_005739.4(RASGRP1):c.1518_1519del (p.Phe506fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 506
NM_005739.4(RASGRP1):c.945dup (p.Val316fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 316
NM_005739.4(RASGRP1):c.1428+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_005739.4(RASGRP1):c.1024C>T (p.Arg342Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 342
NM_005739.4(RASGRP1):c.1307_1314dup (p.Arg439fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 439
View on ClinVar β†—
Related Genes
ITKProtein interaction100%GRAP2Protein interaction100%GRB2Protein interaction100%KRASProtein interaction99%HRASProtein interaction98%DGKAProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
31%
Lung
11%
Heart
7%
Liver
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
RASGRP1ITKGRAP2GRB2KRASHRASDGKA
PROTEIN STRUCTURE
Preparing viewer…
PDB4L9U Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.48Tolerant
Observed/Expected LoF0.40 [0.30–0.54]
RankingsWhere RASGRP1 stands among ~20K protein-coding genes
  • #7,011of 20,598
    Most Researched67
  • #1,810of 5,498
    Most Pathogenic Variants30
  • #3,390of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedRASGRP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autoimmunity and immunodeficiency.
PMID: 31977526
Curr Opin Rheumatol Β· 2020
1.00
2
CRISPR-Cas9 library screening combined with an exosome-targeted delivery system addresses tumorigenesis/TMZ resistance in the mesenchymal subtype of glioblastoma.
PMID: 38773970
Theranostics Β· 2024
0.90
3
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
PMID: 34447369
Front Immunol Β· 2021
0.80
4
RasGRP1 induces autophagy and transformation-associated changes in primary human keratinocytes.
PMID: 33074128
Transl Oncol Β· 2021
0.70
5
Compartmentalized Ras/MAPK signaling.
PMID: 16551266
Annu Rev Immunol Β· 2006
0.60