The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx... See more...

Aliases for RASGRF1 Gene

Aliases for RASGRF1 Gene

  • Ras Protein Specific Guanine Nucleotide Releasing Factor 1 2 3 5
  • Ras-Specific Guanine Nucleotide-Releasing Factor 1 3 4
  • Ras-Specific Nucleotide Exchange Factor CDC25 3 4
  • Guanine Nucleotide-Releasing Protein 3 4
  • Ras-GRF1 3 4
  • CDC25 3 4
  • GRF1 3 4
  • GNRP 3 4
  • Ras-Specific Guanine Nucleotide-Releasing Factor, CDC25 Homolog 3
  • Guanine Nucleotide-Releasing Factor, 55 KD 3
  • Guanine Nucleotide-Releasing Factor 1 3
  • Guanine Nucleotide Exchange Factor 3
  • H-GRF55 3
  • PP13187 3
  • CDC25L 3
  • GRF55 3

External Ids for RASGRF1 Gene

Previous HGNC Symbols for RASGRF1 Gene

  • GRF1

Previous GeneCards Identifiers for RASGRF1 Gene

  • GC15P075083
  • GC15M072411
  • GC15M076830
  • GC15M076970
  • GC15M077041
  • GC15M079252
  • GC15M056012

Summaries for RASGRF1 Gene

Entrez Gene Summary for RASGRF1 Gene

  • The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]

GeneCards Summary for RASGRF1 Gene

RASGRF1 (Ras Protein Specific Guanine Nucleotide Releasing Factor 1) is a Protein Coding gene. Diseases associated with RASGRF1 include Refractive Error and Myopia. Among its related pathways are MAPK-Erk Pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGRF2.

UniProtKB/Swiss-Prot Summary for RASGRF1 Gene

Additional gene information for RASGRF1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASGRF1 Gene

Genomics for RASGRF1 Gene

GeneHancer (GH) Regulatory Elements for RASGRF1 Gene

Promoters and enhancers for RASGRF1 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
GH15J079089 Promoter/Enhancer 1.1 Ensembl ENCODE 750.6 +0.2 172 2.2 ZSCAN21 KLF14 GLIS2 ZBTB8A ZSCAN4 POLR2A ZNF692 SP2 ZBTB20 EZH2 RASGRF1 lnc-CTSH-4
GH15J079091 Enhancer 0.7 Ensembl 750.6 -1.3 -1327 0.4 ZNF785 BCL6B ZNF473 ZSCAN21 CDC5L KLF14 ZSCAN4 ZNF239 ZNF157 ZBTB10 RASGRF1 IREB2 ENSG00000259562 PSMA4 HSALNG0107526
GH15J079064 Promoter 0.3 EPDnew 750.3 +26.3 26273 0.1 RASGRF1 HSALNG0107521 lnc-CTSH-4
GH15J078146 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.7 +942.2 942238 5.2 SIN3A SP1 ZBTB40 FOXA1 SMARCE1 POLR2A ZNF362 MYC NFYC ETV6 IDH3A CIB2 lnc-CIB2-1 LINGO1 RASGRF1 ACSBG1 ENSG00000259562 SH2D7 TBC1D2B ENSG00000199633
GH15J078858 Promoter/Enhancer 1.8 VISTA FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.7 +230.5 230517 3.4 GTF3C2 ZNF24 ZBTB40 CTCF POLR2A USF2 CREB1 MIXL1 MYC RAD21 TRK-CTT1-2 ENSG00000259562 IREB2 ADAMTS7 PSMA4 MORF4L1 RASGRF1 ENSG00000259322 ANKRD34C-AS1 WDR61
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASGRF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASGRF1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • Roaz

Genomic Locations for RASGRF1 Gene

Genomic Locations for RASGRF1 Gene
chr15:78,959,947-79,090,873
(GRCh38/hg38)
Size:
130,927 bases
Orientation:
Minus strand
chr15:79,252,289-79,383,215
(GRCh37/hg19)
Size:
130,927 bases
Orientation:
Minus strand

Genomic View for RASGRF1 Gene

Genes around RASGRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGRF1 Gene

Proteins for RASGRF1 Gene

  • Protein details for RASGRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13972-RGRF1_HUMAN
    Recommended name:
    Ras-specific guanine nucleotide-releasing factor 1
    Protein Accession:
    Q13972
    Secondary Accessions:
    • F8VPA5
    • H0YKF2
    • J3KQP9
    • Q16027

    Protein attributes for RASGRF1 Gene

    Size:
    1273 amino acids
    Molecular mass:
    145234 Da
    Quaternary structure:
    • Homooligomer and heterooligomer with RASGRF2. Interacts with USP8, thereby regulating its stability (By similarity).

    Alternative splice isoforms for RASGRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGRF1 Gene

Post-translational modifications for RASGRF1 Gene

  • Phosphorylated by PLK2, leading to ubiquitination and degradation by the proteasome.
  • Ubiquitinated and degraded following phosphorylation by PLK2.
  • Phosphorylated by SRC and LCK. Phosphorylation by LCK increases its capacity to stimulate the GDP/GTP exchange on Ras, whereas its phosphorylation by SRC seems not to have an effect on stimulation activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt
  • Glycosylation from GlyConnect
    • RGRF1_HUMAN (2067)

No data available for DME Specific Peptides for RASGRF1 Gene

Domains & Families for RASGRF1 Gene

Gene Families for RASGRF1 Gene

Suggested Antigen Peptide Sequences for RASGRF1 Gene

GenScript: Design optimal peptide antigens:
  • Ras protein-specific guanine nucleotide-releasing factor 1, isoform CRA_b (Q8IUU5_HUMAN)
  • Ras-specific nucleotide exchange factor CDC25 (RGRF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13972

UniProtKB/Swiss-Prot:

RGRF1_HUMAN :
  • The DH (DBL-homology) domain mediates interaction with RASGRF2.
Domain:
  • The DH (DBL-homology) domain mediates interaction with RASGRF2.
genes like me logo Genes that share domains with RASGRF1: view

Function for RASGRF1 Gene

Molecular function for RASGRF1 Gene

UniProtKB/Swiss-Prot Function:
Promotes the exchange of Ras-bound GDP by GTP.
GENATLAS Biochemistry:
guanine nucleotide releasing factor (55kDa),specific for Ras proteins

Phenotypes From GWAS Catalog for RASGRF1 Gene

Gene Ontology (GO) - Molecular Function for RASGRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity TAS 1379731
GO:0005088 Ras guanyl-nucleotide exchange factor activity IMP,TAS 27856453
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA --
GO:0035254 glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with RASGRF1: view
genes like me logo Genes that share phenotypes with RASGRF1: view

Animal Models for RASGRF1 Gene

MGI Knock Outs for RASGRF1:

Animal Model Products

CRISPR Products

miRNA for RASGRF1 Gene

miRTarBase miRNAs that target RASGRF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASGRF1 Gene

Localization for RASGRF1 Gene

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 RASGRF1 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
golgi apparatus 3
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASGRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane TAS --
GO:0030426 growth cone ISS --
GO:0043005 neuron projection NAS 10918068
genes like me logo Genes that share ontologies with RASGRF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RASGRF1 Gene

Pathways & Interactions for RASGRF1 Gene

PathCards logo

SuperPathways for RASGRF1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with RASGRF1: view

SIGNOR curated interactions for RASGRF1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RASGRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 7684828
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007616 long-term memory NAS 10918068
GO:0008283 cell proliferation IEA --
genes like me logo Genes that share ontologies with RASGRF1: view

Drugs & Compounds for RASGRF1 Gene

(6) Drugs for RASGRF1 Gene - From: HMDB and Novoseek

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

(2) Additional Compounds for RASGRF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RASGRF1: view

Transcripts for RASGRF1 Gene

mRNA/cDNA for RASGRF1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASGRF1 Gene

No ASD Table

Relevant External Links for RASGRF1 Gene

GeneLoc Exon Structure for
RASGRF1
ECgene alternative splicing isoforms for
RASGRF1

Expression for RASGRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RASGRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASGRF1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.5), Brain - Cerebellum (x6.9), Brain - Frontal Cortex (BA9) (x6.1), Brain - Cortex (x6.1), Brain - Anterior cingulate cortex (BA24) (x5.4), and Brain - Spinal cord (cervical c-1) (x5.3).

Protein differential expression in normal tissues from HIPED for RASGRF1 Gene

This gene is overexpressed in Frontal cortex (28.6), Heart (22.3), Retina (10.6), and Monocytes (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RASGRF1 Gene



Protein tissue co-expression partners for RASGRF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RASGRF1 Gene:

RASGRF1

SOURCE GeneReport for Unigene cluster for RASGRF1 Gene:

Hs.459035

Evidence on tissue expression from TISSUES for RASGRF1 Gene

  • Nervous system(4.8)
  • Adrenal gland(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with RASGRF1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGRF1 Gene

Orthologs for RASGRF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RASGRF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASGRF1 33 32
  • 99.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASGRF1 33
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASGRF1 33
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RASGRF1 33 32
  • 92.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RASGRF1 33 32
  • 90.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgrf1 17 33 32
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia Rasgrf1 32
  • 83.83 (n)
chicken
(Gallus gallus)
Aves RASGRF1 33 32
  • 83.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASGRF1 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgrf1 32
  • 74.99 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-234p18.3 32
  • 78.98 (n)
ralgps1 33
  • 13 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 33
  • 11 (a)
OneToMany
Species where no ortholog for RASGRF1 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RASGRF1 Gene

ENSEMBL:
Gene Tree for RASGRF1 (if available)
TreeFam:
Gene Tree for RASGRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASGRF1: view image

Paralogs for RASGRF1 Gene

(2) SIMAP similar genes for RASGRF1 Gene using alignment to 4 proteins:

  • RGRF1_HUMAN
  • F8VPA5_HUMAN
  • J3KQP9_HUMAN
  • Q8IUU5_HUMAN
genes like me logo Genes that share paralogs with RASGRF1: view

Variants for RASGRF1 Gene

Sequence variations from dbSNP and Humsavar for RASGRF1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs148722229 uncertain-significance, not provided 79,025,333(-) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs769851165 uncertain-significance, not provided 79,049,516(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000010048 -- 79,030,120(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000028525 -- 79,084,745(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000037714 -- 79,045,265(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RASGRF1 Gene

Variant ID Type Subtype PubMed ID
esv1000067 CNV deletion 20482838
esv2660956 CNV deletion 23128226
esv2749917 CNV deletion 23290073
esv2749920 CNV deletion 23290073
esv2760042 CNV gain 17122850
esv2761879 CNV loss 21179565
esv33573 CNV gain+loss 17666407
nsv509577 CNV insertion 20534489
nsv525630 CNV loss 19592680
nsv570204 CNV loss 21841781
nsv827410 CNV gain 20364138
nsv952005 CNV deletion 24416366

Variation tolerance for RASGRF1 Gene

Residual Variation Intolerance Score: 1.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGRF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGRF1 Gene

Disorders for RASGRF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RASGRF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
myopia
  • near vision
transient neonatal diabetes mellitus
  • tndm1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RASGRF1

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 RASGRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASGRF1 Gene

Publications for RASGRF1 Gene

  1. Identification of a human guanine nucleotide-releasing factor (H-GRF55) specific for Ras proteins. (PMID: 7684828) Schweighoffer F … Tocque B (Oncogene 1993) 2 3 4 23 56
  2. Identification of a mammalian gene structurally and functionally related to the CDC25 gene of Saccharomyces cerevisiae. (PMID: 1379731) Wei W … Broek D (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 23 56
  3. Ras-specific exchange factor GRF: oligomerization through its Dbl homology domain and calcium-dependent activation of Raf. (PMID: 10373510) Anborgh PH … Lowy DR (Molecular and cellular biology 1999) 3 4 23 56
  4. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. (PMID: 20835236) Hysi PG … Hammond CJ (Nature genetics 2010) 3 43 56
  5. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. (PMID: 20031603) Marroni F … EUROSPAN Consortium (Circulation. Cardiovascular genetics 2009) 3 43 56

Products for RASGRF1 Gene

Sources for RASGRF1 Gene