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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

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