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RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 [ Homo sapiens (human) ]

Gene ID: 5923, updated on 11-Apr-2024

Summary

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Official Symbol
RASGRF1provided by HGNC
Official Full Name
Ras protein specific guanine nucleotide releasing factor 1provided by HGNC
Primary source
HGNC:HGNC:9875
See related
Ensembl:ENSG00000058335 MIM:606600; AllianceGenome:HGNC:9875
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GNRP; GRF1; CDC25; GRF55; CDC25L; H-GRF55; PP13187; ras-GRF1
Summary
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]
Expression
Biased expression in brain (RPKM 10.4) and lung (RPKM 4.4) See more
Orthologs
mouse all
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Genomic context

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Location:
15q25.1
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78959906..79090780, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76823565..76954487, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79252248..79383122, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 415, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9927 Neighboring gene Sharpr-MPRA regulatory region 2017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79237120-79237658 Neighboring gene cathepsin H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9930 Neighboring gene uncharacterized LOC100129540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79288791-79289564 Neighboring gene uncharacterized LOC105370917 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:79296069-79297268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79298197-79299032 Neighboring gene Sharpr-MPRA regulatory region 5581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79327280-79327780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79339175-79339674 Neighboring gene uncharacterized LOC107984750 Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:79489533-79490066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79497097-79497660 Neighboring gene microRNA 184

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RASGRF1-rearranged Cutaneous Melanocytic Neoplasms With Spitzoid Cytomorphology: A Clinicopathologic and Genetic Study of 3 Cases.
    Title: RASGRF1-rearranged Cutaneous Melanocytic Neoplasms With Spitzoid Cytomorphology: A Clinicopathologic and Genetic Study of 3 Cases.
  2. Benzothiazole amphiphiles promote RasGRF1-associated dendritic spine formation in human stem cell-derived neurons.
    Title: Benzothiazole amphiphiles promote RasGRF1-associated dendritic spine formation in human stem cell-derived neurons.
  3. Low RASGRF1 expression due to hypermethylation is associated with Colorectal Cancer.
    Title: RASGRF1 Hypermethylation, a Putative Biomarker of Colorectal Cancer.
  4. Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia.
    Title: Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania.
  5. genetic variants in BICC1 and RASGRF1 are closely associated with high myopia, which appears to be a potential candidate for high myopia in Chinese Han population.
    Title: Assessment of BicC family RNA binding protein 1 and Ras protein specific guanine nucleotide releasing factor 1 as candidate genes for high myopia: A case-control study.
  6. Endoplasmic reticulum stress triggers a localized signaling module on the ER surface involving Nox4-dependent calcium mobilization, which directs local Ras activation through ER-associated, calcium-responsive RasGRF.
    Title: RasGRF Couples Nox4-Dependent Endoplasmic Reticulum Signaling to Ras.
  7. Data show that microRNA miR-137 directly recognized the 3'-UTR (3'-untranslated region) of the RASGRF1 (Ras protein-specific guanine nucleotide-releasing factor 1) transcript and regulated RASGRF1 expression.
    Title: miR-137 acts as a tumor suppressor in astrocytoma by targeting RASGRF1.
  8. Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians.
    Title: Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians.
  9. Carriers of the rs8027411 G allele in the RASGRF1 gene may be at a lower risk of high myopia in Chinese and Japanese populations. (Meta-analysis)
    Title: Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis.
  10. Rasgrf-1 is a novel GEF protein that has a role in BCR signaling and its overexpression further activates the Ras/Erk/MAPK pathway in CLL specimens.
    Title: Amplification of B cell receptor-Erk signaling by Rasgrf-1 overexpression in chronic lymphocytic leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
EBI GWAS Catalog
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
EBI GWAS Catalog
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
EBI GWAS Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Downregulation of guanine nucleotide-releasing protein, CD151/PETA-3, neuronatin, neuroendocrine differentiation factor, mitochondria 16s rRNA, and signal recognition particle is observed in HIV-1 infected and HIV-1 gp120-treated astrocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in long-term memory NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of Ras protein signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in type B pancreatic cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuron projection NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ras-specific guanine nucleotide-releasing factor 1
Names
CDC25 like
Ras-specific guanine nucleotide-releasing factor, CDC25 homolog
Ras-specific nucleotide exchange factor CDC25
guanine nucleotide exchange factor
guanine nucleotide-releasing factor 1
guanine nucleotide-releasing factor, 55 kD
guanine nucleotide-releasing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145648.3 → NP_001139120.1  ras-specific guanine nucleotide-releasing factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001139120.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC011944, AK226101, AL355696, BC040275, DA126882
    Consensus CDS
    CCDS45320.1
    UniProtKB/TrEMBL
    Q8IUU5
    Related
    ENSP00000452781.2, ENST00000558480.7
    Conserved Domains (6) summary
    smart00147
    Location:1018 → 1254
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00325
    Location:244 → 425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19 → 154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00618
    Location:634 → 682
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:922 → 991
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    cl17171
    Location:431 → 582
    PH-like; Pleckstrin homology-like domain

  2. NM_002891.6 → NP_002882.3  ras-specific guanine nucleotide-releasing factor 1 isoform 1

    See identical proteins and their annotated locations for NP_002882.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC011944, AK226101, AK290135, AL355696, DA126882
    Consensus CDS
    CCDS10309.1
    UniProtKB/Swiss-Prot
    F8VPA5, H0YKF2, J3KQP9, Q13972, Q16027
    UniProtKB/TrEMBL
    Q8IUU5
    Related
    ENSP00000405963.3, ENST00000419573.7
    Conserved Domains (7) summary
    smart00147
    Location:1034 → 1270
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00325
    Location:244 → 425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19 → 154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24 → 129
    PH; PH domain
    pfam00618
    Location:647 → 695
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:938 → 1007
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    cl17171
    Location:431 → 582
    PH-like; Pleckstrin homology-like domain

  3. NM_153815.3 → NP_722522.1  ras-specific guanine nucleotide-releasing factor 1 isoform 2

    See identical proteins and their annotated locations for NP_722522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 5' exon, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a much shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC011944, AK226101, AL355696
    Consensus CDS
    CCDS42065.1
    UniProtKB/Swiss-Prot
    Q13972
    Related
    ENSP00000378228.3, ENST00000394745.3
    Conserved Domains (2) summary
    smart00147
    Location:250 → 486
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cl02520
    Location:154 → 223
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    78959906..79090780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022456.3 → XP_016877945.1  ras-specific guanine nucleotide-releasing factor 1 isoform X3

    UniProtKB/TrEMBL
    Q8IUU5

  2. XM_017022455.3 → XP_016877944.1  ras-specific guanine nucleotide-releasing factor 1 isoform X1

    UniProtKB/TrEMBL
    Q8IUU5

  3. XM_047432926.1 → XP_047288882.1  ras-specific guanine nucleotide-releasing factor 1 isoform X6

  4. XM_017022458.3 → XP_016877947.1  ras-specific guanine nucleotide-releasing factor 1 isoform X5

    UniProtKB/TrEMBL
    Q8IUU5

  5. XM_017022457.3 → XP_016877946.1  ras-specific guanine nucleotide-releasing factor 1 isoform X4

    UniProtKB/TrEMBL
    Q8IUU5

  6. XM_011521866.4 → XP_011520168.1  ras-specific guanine nucleotide-releasing factor 1 isoform X2

    UniProtKB/TrEMBL
    Q8IUU5
    Conserved Domains (7) summary
    smart00325
    Location:244 → 425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19 → 154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24 → 129
    PH; PH domain
    pfam00617
    Location:1041 → 1181
    RasGEF; RasGEF domain
    pfam00618
    Location:647 → 695
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:938 → 1007
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    cl17171
    Location:431 → 582
    PH-like; Pleckstrin homology-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    76823565..76954487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378577.1 → XP_054234552.1  ras-specific guanine nucleotide-releasing factor 1 isoform X3

  2. XM_054378576.1 → XP_054234551.1  ras-specific guanine nucleotide-releasing factor 1 isoform X1

  3. XM_054378575.1 → XP_054234550.1  ras-specific guanine nucleotide-releasing factor 1 isoform X10

  4. XM_054378574.1 → XP_054234549.1  ras-specific guanine nucleotide-releasing factor 1 isoform X9

  5. XM_054378573.1 → XP_054234548.1  ras-specific guanine nucleotide-releasing factor 1 isoform X8

  6. XM_054378572.1 → XP_054234547.1  ras-specific guanine nucleotide-releasing factor 1 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13972.2 GenPept UniProtKB/Swiss-Prot:Q13972

Gene LinkOut

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