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

Gene ID: 5923, updated on 13-Mar-2020

Summary

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
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

Genomic context

See RASGRF1 in Genome Data Viewer
Location:
15q25.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (78959906..79090780, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79252289..79383215, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 415, pseudogene Neighboring gene cathepsin H Neighboring gene uncharacterized LOC100129540 Neighboring gene uncharacterized LOC105370917 Neighboring gene uncharacterized LOC107984750 Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene microRNA 184

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ras-specific guanine nucleotide-releasing factor 1
Names
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)

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_001145648.3NP_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, ENST00000558480.6
    Conserved Domains (7) summary
    smart00147
    Location:10181254
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00325
    Location:244425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24129
    PH; PH domain
    pfam00618
    Location:634682
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:922991
    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:431582
    PH-like; Pleckstrin homology-like domain
  2. NM_002891.5NP_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
    Q13972
    UniProtKB/TrEMBL
    A8K270
    Related
    ENSP00000405963.3, ENST00000419573.7
    Conserved Domains (7) summary
    smart00147
    Location:10341270
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00325
    Location:244425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24129
    PH; PH domain
    pfam00618
    Location:647695
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:9381007
    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:431582
    PH-like; Pleckstrin homology-like domain
  3. NM_153815.2NP_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:250486
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cl02520
    Location:154223
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017022459.2XP_016877948.1  ras-specific guanine nucleotide-releasing factor 1 isoform X7

  2. XM_017022456.2XP_016877945.1  ras-specific guanine nucleotide-releasing factor 1 isoform X3

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

  4. XM_011521867.3XP_011520169.1  ras-specific guanine nucleotide-releasing factor 1 isoform X6

    Conserved Domains (7) summary
    smart00325
    Location:244425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24129
    PH; PH domain
    pfam00617
    Location:10411181
    RasGEF; RasGEF domain
    pfam00618
    Location:647695
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:9381007
    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:431582
    PH-like; Pleckstrin homology-like domain
  5. XM_017022458.2XP_016877947.1  ras-specific guanine nucleotide-releasing factor 1 isoform X5

  6. XM_017022457.2XP_016877946.1  ras-specific guanine nucleotide-releasing factor 1 isoform X4

  7. XM_011521866.3XP_011520168.1  ras-specific guanine nucleotide-releasing factor 1 isoform X2

    Conserved Domains (7) summary
    smart00325
    Location:244425
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13261
    Location:19154
    PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:24129
    PH; PH domain
    pfam00617
    Location:10411181
    RasGEF; RasGEF domain
    pfam00618
    Location:647695
    RasGEF_N; RasGEF N-terminal motif
    cl02520
    Location:9381007
    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:431582
    PH-like; Pleckstrin homology-like domain
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