This gene 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, hom... See more...

Aliases for RASGRP1 Gene

Aliases for RASGRP1 Gene

  • RAS Guanyl Releasing Protein 1 2 3 5
  • Calcium- And Diacylglycerol-Regulated Guanine Nucleotide Exchange Factor II 2 3
  • Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor II 3 4
  • RAS Guanyl Releasing Protein 1 (Calcium And DAG-Regulated) 2 3
  • RAS Guanyl-Releasing Protein 1 3 4
  • RASGRP 3 4
  • Guanine Nucleotide Exchange Factor, Calcium- And DAG-Regulated, Rap1A 3
  • RAS Guanyl Nucleotide-Releasing Protein 1 3
  • Ras Guanyl-Releasing Protein 4
  • Ras Activator RasGRP 3
  • CALDAG-GEFII 3
  • CalDAG-GEFII 4
  • CALDAG-GEFI 3
  • IMD64 3

External Ids for RASGRP1 Gene

Previous GeneCards Identifiers for RASGRP1 Gene

  • GC15M034123
  • GC15M031676
  • GC15M036359
  • GC15M036496
  • GC15M036567
  • GC15M038780
  • GC15M015624

Summaries for RASGRP1 Gene

Entrez Gene Summary for RASGRP1 Gene

  • This gene 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. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

GeneCards Summary for RASGRP1 Gene

RASGRP1 (RAS Guanyl Releasing Protein 1) is a Protein Coding gene. Diseases associated with RASGRP1 include Immunodeficiency 64 and Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and lipid binding. An important paralog of this gene is RASGRP3.

UniProtKB/Swiss-Prot Summary for RASGRP1 Gene

  • Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768). Activates the Erk/MAP kinase cascade (PubMed:15899849). Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994). Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860). Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By similarity). May also function in differentiation of other cell types (PubMed:12845332).

Gene Wiki entry for RASGRP1 Gene

Additional gene information for RASGRP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASGRP1 Gene

Genomics for RASGRP1 Gene

GeneHancer (GH) Regulatory Elements for RASGRP1 Gene

Promoters and enhancers for RASGRP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J038553 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 528.6 +5.8 5767 11.9 CTCF SIN3A USF1 EP300 ZBTB10 ZBTB26 REST RELA MYC RAD21 RASGRP1 LINC02694 RF00019-050
GH15J038565 Promoter/Enhancer 0.6 Ensembl dbSUPER 523.5 -0.4 -426 0.4 EZH2 RASGRP1 piR-40110-209
GH15J038610 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 54.6 -45.7 -45725 4.6 CTBP1 ZNF316 CEBPG IRF1 TBX21 CEBPB MAFK GATA3 YY1 SCRT2 HSALNG0105127 RASGRP1 LINC02694 piR-40476-029
GH15J038650 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 47.2 -86.7 -86660 4.1 SIN3A ARNT MEF2B CHD1 ELF1 IKZF1 NR2F1 CEBPG PRDM10 ATF4 RASGRP1 FAM98B LINC02694 LOC105370775
GH15J038531 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 36.7 +26.4 26375 18.8 NRF1 JUND ZBTB11 REST MYC ATF2 TAF9B CTCF ZNF316 ZNF263 RASGRP1 LINC02694 FAM98B RF00019-050 ENSG00000259598
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASGRP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASGRP1

Top Transcription factor binding sites by QIAGEN in the RASGRP1 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXO3
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RASGRP1 Gene

Genomic Locations for RASGRP1 Gene
chr15:38,488,101-38,565,575
(GRCh38/hg38)
Size:
77,475 bases
Orientation:
Minus strand
chr15:38,780,302-38,857,776
(GRCh37/hg19)
Size:
77,475 bases
Orientation:
Minus strand

Genomic View for RASGRP1 Gene

Genes around RASGRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGRP1 Gene

Proteins for RASGRP1 Gene

  • Protein details for RASGRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95267-GRP1_HUMAN
    Recommended name:
    RAS guanyl-releasing protein 1
    Protein Accession:
    O95267
    Secondary Accessions:
    • Q56CZ0
    • Q58G75
    • Q59HB1
    • Q5I3A8
    • Q6GV31
    • Q6NX39
    • Q7LDG6
    • Q9UI94
    • Q9UNN9

    Protein attributes for RASGRP1 Gene

    Size:
    797 amino acids
    Molecular mass:
    90402 Da
    Quaternary structure:
    • Homodimer (PubMed:23908768). Forms a signaling complex with DGKZ and HRAS (PubMed:11257115). Interacts with F-actin (PubMed:12839994). Interacts with SKAP1 (PubMed:17658605).
    SequenceCaution:
    • Sequence=AAH67298.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RASGRP1 Gene

    Alternative splice isoforms for RASGRP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGRP1 Gene

Post-translational modifications for RASGRP1 Gene

  • Ubiquitination at Lys596
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RASGRP1 Gene

Domains & Families for RASGRP1 Gene

Gene Families for RASGRP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RASGRP1 Gene

Suggested Antigen Peptide Sequences for RASGRP1 Gene

GenScript: Design optimal peptide antigens:
  • Ras guanyl-releasing protein (GRP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95267

UniProtKB/Swiss-Prot:

GRP1_HUMAN :
  • The phorbol-ester/DAG-type zinc finger is the principal mediator of the targeting to membranes and is required for functional activation through DAG-binding.
  • Belongs to the RASGRP family.
Domain:
  • The phorbol-ester/DAG-type zinc finger is the principal mediator of the targeting to membranes and is required for functional activation through DAG-binding.
  • Two EF-hand domains are present. However, only EF-hand 1 (and not EF-hand 2) binds calcium.
Family:
  • Belongs to the RASGRP family.
genes like me logo Genes that share domains with RASGRP1: view

Function for RASGRP1 Gene

Molecular function for RASGRP1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768). Activates the Erk/MAP kinase cascade (PubMed:15899849). Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994). Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860). Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By similarity). May also function in differentiation of other cell types (PubMed:12845332).
UniProtKB/Swiss-Prot EnzymeRegulation:
Autoinhibited. Activated by diacylglycerol and calcium binding, which induces a conformational change releasing the autoinhibitory state (PubMed:23908768). Regulated by DGKA (PubMed:11919165). Regulated by DGKZ (PubMed:11257115). Regulated by PLC gamma and F-actin polymerization (PubMed:12839994).
GENATLAS Biochemistry:
guanine nucleotide releasing (exchange) protein 1,RAS activator,calcium and DAG-regulated,expressed in the nervous system

Phenotypes From GWAS Catalog for RASGRP1 Gene

Gene Ontology (GO) - Molecular Function for RASGRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IMP --
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity IMP 23908768
GO:0005509 calcium ion binding IMP,IEA 23908768
GO:0008270 zinc ion binding IMP 23908768
genes like me logo Genes that share ontologies with RASGRP1: view
genes like me logo Genes that share phenotypes with RASGRP1: view

Human Phenotype Ontology for RASGRP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RASGRP1 Gene

MGI Knock Outs for RASGRP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGRP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RASGRP1 Gene

Localization for RASGRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASGRP1 Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Found both in the cytosol and associated with membranes. Relocalization to the cell membrane upon activation is F-actin-dependent. Translocates to the Golgi in response to phorbol ester or nerve growth factor. Localizes to somata and dendrites but not to axons of hippocampal pyramidal cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASGRP1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
nucleus 4
lysosome 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASGRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005622 intracellular IEA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RASGRP1: view

Pathways & Interactions for RASGRP1 Gene

PathCards logo

SuperPathways for RASGRP1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling events of B Cell Receptor (BCR)
3 Signaling by GPCR
4 MAPK signaling pathway
5 T cell receptor signaling pathway
genes like me logo Genes that share pathways with RASGRP1: view

Pathways by source for RASGRP1 Gene

7 GeneGo (Thomson Reuters) pathways for RASGRP1 Gene
  • Development Beta-adrenergic receptors regulation of ERK
  • G-protein signaling M-RAS regulation pathway
  • G-protein signaling N-RAS regulation pathway
  • G-protein signaling TC21 regulation pathway
  • G-protein signaling_H-RAS regulation pathway
1 R&D Systems pathway for RASGRP1 Gene
3 Qiagen pathways for RASGRP1 Gene
  • ITK and TCR Signaling
  • Molecular Mechanisms of Cancer
  • Rap1 Pathway

SIGNOR curated interactions for RASGRP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RASGRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001816 cytokine production IEA --
GO:0001934 positive regulation of protein phosphorylation IDA,IMP 23908768
GO:0002437 inflammatory response to antigenic stimulus IEA --
GO:0007165 signal transduction TAS 9789079
genes like me logo Genes that share ontologies with RASGRP1: view

Drugs & Compounds for RASGRP1 Gene

(3) Drugs for RASGRP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for RASGRP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with RASGRP1: view

Transcripts for RASGRP1 Gene

mRNA/cDNA for RASGRP1 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASGRP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASGRP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: -
SP8: - - - - -
SP9: - - - -
SP10:
SP11: -

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for RASGRP1 Gene

GeneLoc Exon Structure for
RASGRP1

Expression for RASGRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASGRP1 Gene

mRNA differential expression in normal tissues according to GTEx for RASGRP1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.8) and Brain - Cerebellum (x5.8).

Protein differential expression in normal tissues from HIPED for RASGRP1 Gene

This gene is overexpressed in Pancreatic juice (48.7) and CD8 Tcells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RASGRP1 Gene



Protein tissue co-expression partners for RASGRP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASGRP1

SOURCE GeneReport for Unigene cluster for RASGRP1 Gene:

Hs.591127

mRNA Expression by UniProt/SwissProt for RASGRP1 Gene:

O95267-GRP1_HUMAN
Tissue specificity: Expressed in brain with higher expression in cerebellum, cerebral cortex and amygdala. Expressed in the hematopoietic system. Expressed in T-cells (at protein level). Expressed in NK cells (at protein level) (PubMed:19933860).

Evidence on tissue expression from TISSUES for RASGRP1 Gene

  • Nervous system(4.7)
  • Blood(4.5)
genes like me logo Genes that share expression patterns with RASGRP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGRP1 Gene

Orthologs for RASGRP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASGRP1 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RASGRP1 31 30
  • 92.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RASGRP1 31 30
  • 90.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasgrp1 30
  • 87.1 (n)
oppossum
(Monodelphis domestica)
Mammalia RASGRP1 31
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgrp1 17 31 30
  • 86.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RASGRP1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASGRP1 31 30
  • 71.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGRP1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgrp1 30
  • 68.04 (n)
Str.18201 30
zebrafish
(Danio rerio)
Actinopterygii rasgrp4 30
  • 61.59 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12296 30
worm
(Caenorhabditis elegans)
Secernentea F25B3.3 32
  • 37 (a)
rgef-1 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for RASGRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RASGRP1 Gene

ENSEMBL:
Gene Tree for RASGRP1 (if available)
TreeFam:
Gene Tree for RASGRP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASGRP1: view image

Paralogs for RASGRP1 Gene

(7) SIMAP similar genes for RASGRP1 Gene using alignment to 9 proteins:

  • GRP1_HUMAN
  • F5H514_HUMAN
  • H0YKM0_HUMAN
  • H0YKP8_HUMAN
  • H0YMF3_HUMAN
  • H0YMT0_HUMAN
  • H0YN83_HUMAN
  • H0YNG8_HUMAN
  • H0YNK9_HUMAN
genes like me logo Genes that share paralogs with RASGRP1: view

Variants for RASGRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASGRP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
666277 Pathogenic: IMMUNODEFICIENCY 64 38,512,896(-) G/A NONSENSE
666278 Pathogenic: IMMUNODEFICIENCY 64 38,512,861(-) C/T NONSENSE
666279 Pathogenic: IMMUNODEFICIENCY 64 38,516,231(-) G/A MISSENSE_VARIANT
666280 Pathogenic: IMMUNODEFICIENCY 64 38,511,606(-) T/A NONSENSE
666281 Pathogenic: IMMUNODEFICIENCY 64 38,494,730(-) C/CCT FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RASGRP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RASGRP1 Gene

Variant ID Type Subtype PubMed ID
esv2749578 CNV deletion 23290073
esv3636194 CNV loss 21293372
esv3636195 CNV loss 21293372
nsv1046994 CNV gain 25217958
nsv525770 CNV gain 19592680

Variation tolerance for RASGRP1 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.38; 81.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGRP1 Gene

Human Gene Mutation Database (HGMD)
RASGRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGRP1 Gene

Disorders for RASGRP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RASGRP1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GRP1_HUMAN
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:17878389}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Aberrantly spliced isoforms and/or diminished levels of RASGRP1 are found in a cohort of SLE patients raising the possibility that dysregulation of this signaling protein contributes to the development of autoimmunity in a subset of SLE patients.

Additional Disease Information for RASGRP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RASGRP1: view

No data available for Genatlas for RASGRP1 Gene

Publications for RASGRP1 Gene

  1. RasGRP, a Ras activator: mouse and human cDNA sequences and chromosomal positions. (PMID: 10087292) Bottorff D … Stone JC (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 4 23 54
  2. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PMID: 9789079) Kawasaki H … Graybiel AM (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23 54
  3. Defective expression of Ras guanyl nucleotide-releasing protein 1 in a subset of patients with systemic lupus erythematosus. (PMID: 17878389) Yasuda S … Koike T (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 4 23 54
  4. Diacylglycerol kinase zeta regulates Ras activation by a novel mechanism. (PMID: 11257115) Topham MK … Prescott SM (The Journal of cell biology 2001) 3 4 23 54
  5. RasGRP links T-cell receptor signaling to Ras. (PMID: 10807788) Ebinu JO … Stone JC (Blood 2000) 3 4 23 54

Products for RASGRP1 Gene

Sources for RASGRP1 Gene