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Aliases for RASGRP1 Gene

Aliases for RASGRP1 Gene

  • RAS Guanyl Releasing Protein 1 (Calcium And DAG-Regulated) 2 3
  • Calcium And DAG-Regulated Guanine Nucleotide Exchange Factor II 3 4
  • CALDAG-GEFII 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 1 3
  • Ras Guanyl-Releasing Protein 4
  • Ras Activator RasGRP 3
  • CALDAG-GEFI 3
  • HRasGRP1 3
  • V 3

External Ids for RASGRP1 Gene

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 (Calcium And DAG-Regulated)) is a Protein Coding gene. Diseases associated with RASGRP1 include leukocyte adhesion deficiency and systemic lupus erythematosus. Among its related pathways are PI-3K cascade and MAPK signaling pathway. GO annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGRP3.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASGRP1 Gene

Genomics for RASGRP1 Gene

Genomic Location for RASGRP1 Gene

Start:
38,488,101 bp from pter
End:
38,565,575 bp from pter
Size:
77,475 bases
Orientation:
Minus strand

Genomic View for RASGRP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RASGRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGRP1 Gene

Regulatory Elements 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

Proteomics data for RASGRP1 Gene at MOPED

Post-translational modifications for RASGRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys596

No data available for DME Specific Peptides for RASGRP1 Gene

Domains for RASGRP1 Gene

Gene Families for RASGRP1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Suggested Antigen Peptide Sequences for RASGRP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95267

UniProtKB/Swiss-Prot:

GRP1_HUMAN
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:
    • O95267
  • Two EF-hand domains are present. However, only EF-hand 1 (and not EF-hand 2) binds calcium.:
    • O95267
  • Contains 2 EF-hand domains.:
    • O95267
  • Contains 1 N-terminal Ras-GEF domain.:
    • O95267
  • Contains 1 Ras-GEF domain.:
    • O95267
Family:
  • Belongs to the RASGRP family.:
    • O95267
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.:
    • O95267
genes like me logo Genes that share domains with RASGRP1: view

Function for RASGRP1 Gene

Molecular function for RASGRP1 Gene

GENATLAS Biochemistry: guanine nucleotide releasing (exchange) protein 1,RAS activator,calcium and DAG-regulated,expressed in the nervous system
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).
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).

Gene Ontology (GO) - Molecular Function for RASGRP1 Gene

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

Phenotypes for RASGRP1 Gene

genes like me logo Genes that share phenotypes with RASGRP1: view

Animal Models for RASGRP1 Gene

MGI Knock Outs for RASGRP1:

miRNA for RASGRP1 Gene

miRTarBase miRNAs that target RASGRP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for RASGRP1 Gene COMPARTMENTS Subcellular localization image for RASGRP1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for RASGRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005622 intracellular --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA 21968647
genes like me logo Genes that share ontologies with RASGRP1: view

Pathways for RASGRP1 Gene

genes like me logo Genes that share pathways with RASGRP1: view

Gene Ontology (GO) - Biological Process for RASGRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001816 cytokine production IEA --
GO:0001934 positive regulation of protein phosphorylation IMP 23908768
GO:0002437 inflammatory response to antigenic stimulus IEA --
GO:0007165 signal transduction TAS 9789079
GO:0007264 small GTPase mediated signal transduction --
genes like me logo Genes that share ontologies with RASGRP1: view

Compounds for RASGRP1 Gene

(845) HMDB Compounds for RASGRP1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available
DG(14:0/16:0/0:0)
  • DAG(30:0)
Not Available

(3) Novoseek inferred chemical compound relationships for RASGRP1 Gene

Compound -log(P) Hits PubMed IDs
bryostatin 1 76.2 3
calcium 31.2 11
lipid 1.16 2
genes like me logo Genes that share compounds with RASGRP1: view

Transcripts for RASGRP1 Gene

Unigene Clusters for RASGRP1 Gene

RAS guanyl releasing protein 1 (calcium and DAG-regulated):
Representative Sequences:

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
ECgene alternative splicing isoforms for
RASGRP1

Expression for RASGRP1 Gene

mRNA expression in normal human tissues for RASGRP1 Gene

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.8) and Brain - Cerebellum (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RASGRP1 Gene

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).
genes like me logo Genes that share expressions with RASGRP1: view

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 35
  • 99.79 (n)
  • 100 (a)
RASGRP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RASGRP1 35
  • 90.92 (n)
  • 94.23 (a)
RASGRP1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASGRP1 35
  • 92.01 (n)
  • 95.65 (a)
RASGRP1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgrp1 35
  • 86.84 (n)
  • 90.79 (a)
Rasgrp1 16
Rasgrp1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASGRP1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASGRP1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasgrp1 35
  • 87.1 (n)
  • 90.29 (a)
chicken
(Gallus gallus)
Aves RASGRP1 35
  • 71.16 (n)
  • 74.81 (a)
RASGRP1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGRP1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgrp1 35
  • 68.04 (n)
  • 72.68 (a)
Str.18201 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12296 35
zebrafish
(Danio rerio)
Actinopterygii rasgrp4 35
  • 61.59 (n)
  • 58.61 (a)
worm
(Caenorhabditis elegans)
Secernentea rgef-1 36
  • 31 (a)
OneToMany
F25B3.3 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for RASGRP1:
  • 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)

Paralogs for RASGRP1 Gene

Paralogs for RASGRP1 Gene

genes like me logo Genes that share paralogs with RASGRP1: view

Variants for RASGRP1 Gene

Sequence variations from dbSNP and Humsavar for RASGRP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs967905 -- 38,560,855(-) GACTC(G/T)TAAGC intron-variant
rs1136973 -- 38,489,111(-) AGCCA(A/G)TAGCA utr-variant-3-prime
rs3935641 -- 38,506,264(+) GGTGT(C/G)TATAG intron-variant
rs3936122 -- 38,499,082(-) ATTAG(A/G)AATGT intron-variant
rs4075804 -- 38,535,732(-) TTCAA(C/T)TGCTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904085 CNV Gain 21882294
nsv525770 CNV Gain 19592680
nsv904086 CNV Gain 21882294
esv2749578 CNV Deletion 23290073

Relevant External Links for RASGRP1 Gene

HapMap Linkage Disequilibrium report
RASGRP1

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

Disorders for RASGRP1 Gene

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.

(1) University of Copenhagen DISEASES for RASGRP1 Gene

Relevant External Links for RASGRP1

Genetic Association Database (GAD)
RASGRP1
Human Genome Epidemiology (HuGE) Navigator
RASGRP1
genes like me logo Genes that share disorders with RASGRP1: view

Publications for RASGRP1 Gene

  1. A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. (PMID: 9789079) Kawasaki H. … Graybiel A.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. RasGRP, a Ras activator: mouse and human cDNA sequences and chromosomal positions. (PMID: 10087292) Bottorff D.A. … Stone J.C. (Mamm. Genome 1999) 2 3 4 23
  3. RasGRP links T-cell receptor signaling to Ras. (PMID: 10807788) Ebinu J.O. … Stone J.C. (Blood 2000) 3 4 23
  4. Diacylglycerol kinase zeta regulates Ras activation by a novel mechanism. (PMID: 11257115) Topham M.K. … Prescott S.M. (J. Cell Biol. 2001) 3 4 23
  5. Defective expression of ras guanyl nucleotide-releasing protein 1 in a subset of patients with systemic lupus erythematosus. (PMID: 17878389) Yasuda S. … Koike T. (J. Immunol. 2007) 3 4 23

Products for RASGRP1 Gene

Sources for RASGRP1 Gene

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