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This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have be... See more...
Aliases for RAPGEF1 Gene
Aliases for RAPGEF1 Gene
External Ids for RAPGEF1 Gene
- HGNC: 4568
- NCBI Entrez Gene: 2889
- Ensembl: ENSG00000107263
- OMIM®: 600303
- UniProtKB/Swiss-Prot: Q13905
Previous HGNC Symbols for RAPGEF1 Gene
- GRF2
Previous GeneCards Identifiers for RAPGEF1 Gene
- GC09M129729
- GC09M131481
- GC09M133441
- GC09M134452
- GC09M103946
Summaries for RAPGEF1 Gene
-
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for RAPGEF1 Gene
RAPGEF1 (Rap Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with RAPGEF1 include Transient Refractive Change and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Signaling by GPCR and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and Rap guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAPGEF4.
UniProtKB/Swiss-Prot Summary for RAPGEF1 Gene
-
Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Involved in cell branching and adhesion mediated by BCAR1-CRK-RAPGEF1 signaling and activation of RAP1 (PubMed:12432078). Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.
Additional gene information for RAPGEF1 Gene
- HGNC (4568)
- NCBI Entrez Gene (2889)
- Ensembl (ENSG00000107263)
- OMIM® (600303)
- UniProtKB/Swiss-Prot (Q13905)
- Open Targets Platform(ENSG00000107263)
- Search for RAPGEF1 at DataMed
- Search for RAPGEF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAPGEF1 Gene
Genomics for RAPGEF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RAPGEF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RAPGEF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAPGEF1
- Top Transcription factor binding sites by QIAGEN in the RAPGEF1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- NF-kappaB1
Genomic Locations for RAPGEF1 Gene
Latest Assembly
- chr9:131,576,770-131,740,076
- (GRCh38/hg38)
- Size:
- 163,307 bases
- Orientation:
- Minus strand
Previous Assembly
- chr9:134,452,162-134,615,463
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 163,302 bases
- Orientation:
- Minus strand
- chr9:134,452,157-134,615,461
- (GRCh37/hg19 by Ensembl)
- Size:
- 163,305 bases
- Orientation:
- Minus strand
Genomic View for RAPGEF1 Gene
Genes around RAPGEF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.13 by HGNC
- 9q34.13 by Entrez Gene
- 9q34.13 by Ensembl
RAPGEF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RAPGEF1 Gene
Proteins for RAPGEF1 Gene
-
Protein details for RAPGEF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13905-RPGF1_HUMAN
- Recommended name:
- Rap guanine nucleotide exchange factor 1
- Protein Accession:
- Q13905
- Q5JUE4
- Q68DL3
- Q8IV73
Protein attributes for RAPGEF1 Gene
- Size:
- 1077 amino acids
- Molecular mass:
- 120548 Da
- Quaternary structure:
-
- Interacts with HCK (via SH3-binding sites) (PubMed:14551197). Interacts with CRK (via SH3-binding sites) (PubMed:8662907).
Protein Expression for RAPGEF1 Gene
Post-translational modifications for RAPGEF1 Gene
- Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for RAPGEF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005272243.1
- XP_006717130.1
- XP_006717135.1
- XP_006717137.1
- XP_011516871.1
- XP_011516872.1
- XP_011516873.1
- XP_011516874.1
- XP_011516875.1
- XP_011516876.1
- XP_011516877.1
- XP_011516878.1
- XP_011516879.1
- XP_011516880.1
- XP_011516881.1
- XP_011516882.1
- XP_011516883.1
- XP_011516884.1
- XP_016870122.1
- XP_016870123.1
- XP_016870124.1
- XP_016870125.1
- XP_016870126.1
- XP_016870127.1
- XP_016870128.1
- XP_016870129.1
- XP_016870130.1
- XP_024303289.1
- NP_001291204.1
- NP_001364864.1
- NP_001364865.1
- NP_001364866.1
- NP_001364867.1
- NP_005303.2
- NP_941372.1
Antibodies for research
- LifeSpan BioSciences RAPGEF1 Antibody
- Novus Biologicals Antibodies for RAPGEF1
-
Abcam antibodies for RAPGEF1
- Invitrogen Antibodies for RAPGEF1 (AFLGC-RAPGEF1)
-
Boster Bio Antibodies for RAPGEF1
-
Custom Antibody ServicesProSci Antibodies for RAPGEF1
Protein products for research
-
OriGene Purified Proteins for RAPGEF1
- Search Origene for MassSpec and Protein Over-expression Lysates for RAPGEF1
- Origene Custom Protein Services for RAPGEF1
-
Abcam proteins for RAPGEF1
Assay products for research
- antibodies-online: Show 24 available GRF2 Elisa Kits ranked by validation data
- Compare Top GRF2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RAPGEF1 Gene
Domains & Families for RAPGEF1 Gene
Gene Families for RAPGEF1 Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RAPGEF1 Gene
- InterPro:
- Blocks:
-
- Guanine-nucleotide dissociation stimulator CDC25
- ProtoNet:
Suggested Antigen Peptide Sequences for RAPGEF1 Gene
- GenScript: Design optimal peptide antigens:
-
- Guanine nucleotide-releasing factor 2 (A5XEI4_HUMAN)
- Guanine nucleotide-releasing factor 2 (A5XEI5_HUMAN)
- Guanine nucleotide-releasing factor 2 (A5XEI6_HUMAN)
- Guanine nucleotide-releasing factor 2 (A5XEI7_HUMAN)
- Guanine nucleotide-releasing factor 2 (A5XEI8_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAPGEF1 Gene
Function for RAPGEF1 Gene
Molecular function for RAPGEF1 Gene
- UniProtKB/Swiss-Prot Function:
- Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Involved in cell branching and adhesion mediated by BCAR1-CRK-RAPGEF1 signaling and activation of RAP1 (PubMed:12432078). Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.
Phenotypes From GWAS Catalog for RAPGEF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,TAS | -- |
| GO:0005515 | protein binding | IPI | 9748234 |
| GO:0017124 | SH3 domain binding | IEA | -- |
Phenotypes for RAPGEF1 Gene
- MGI mutant phenotypes for RAPGEF1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for RAPGEF1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Synthetic lethal with Ras
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased p24 protein expression
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, decreased cell spreading
Animal Models for RAPGEF1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAPGEF1 - Starting at $85 >
- * RAPGEF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAPGEF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAPGEF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAPGEF1
miRNA for RAPGEF1 Gene
- miRTarBase miRNAs that target RAPGEF1
-
- mmu-miR-362-5p (MIRT009020)
- hsa-miR-375 (MIRT019993)
- hsa-miR-615-3p (MIRT039719)
- hsa-miR-193b-3p (MIRT041498)
- hsa-miR-339-5p (MIRT042785)
- hsa-miR-27b-3p (MIRT046173)
- hsa-miR-25-3p (MIRT050309)
- hsa-miR-4709-3p (MIRT455915)
- hsa-miR-4452 (MIRT455916)
- hsa-miR-3127-5p (MIRT455917)
- hsa-miR-5196-5p (MIRT455918)
- hsa-miR-4747-5p (MIRT455919)
- hsa-miR-6754-5p (MIRT455920)
- hsa-miR-4441 (MIRT455921)
- hsa-miR-4270 (MIRT455922)
- hsa-miR-211-3p (MIRT455923)
- hsa-miR-506-5p (MIRT455924)
- hsa-miR-9500 (MIRT455925)
- hsa-miR-6510-5p (MIRT492477)
- hsa-miR-6864-5p (MIRT492478)
- hsa-miR-561-5p (MIRT492479)
- hsa-miR-3175 (MIRT492480)
- hsa-miR-8085 (MIRT492481)
- hsa-miR-6731-5p (MIRT492482)
- hsa-miR-365b-5p (MIRT492483)
- hsa-miR-365a-5p (MIRT492484)
- hsa-miR-6809-5p (MIRT492485)
- hsa-miR-4644 (MIRT492486)
- hsa-miR-4306 (MIRT492487)
- hsa-miR-185-5p (MIRT492488)
- hsa-miR-3202 (MIRT492489)
- hsa-miR-3179 (MIRT492490)
- hsa-miR-7515 (MIRT492491)
- hsa-miR-6830-5p (MIRT492492)
- hsa-miR-4475 (MIRT492493)
- hsa-miR-541-5p (MIRT492494)
- hsa-miR-3646 (MIRT492495)
- hsa-miR-203a-3p (MIRT492496)
- hsa-miR-3941 (MIRT614810)
- hsa-miR-483-3p (MIRT614811)
- hsa-miR-603 (MIRT614812)
- hsa-miR-362-3p (MIRT614813)
- hsa-miR-329-3p (MIRT614814)
- hsa-miR-8485 (MIRT614815)
- hsa-miR-5692a (MIRT614816)
- hsa-miR-6881-3p (MIRT627719)
- hsa-miR-6720-5p (MIRT627720)
- hsa-miR-6512-3p (MIRT627721)
- hsa-miR-1255b-5p (MIRT627722)
- hsa-miR-1255a (MIRT627723)
- hsa-miR-6744-5p (MIRT627724)
- hsa-miR-942-5p (MIRT627725)
- hsa-miR-550b-3p (MIRT627726)
- hsa-miR-4685-3p (MIRT627727)
- hsa-miR-4287 (MIRT627728)
- hsa-miR-766-3p (MIRT627729)
- hsa-miR-6787-3p (MIRT627730)
- hsa-miR-877-3p (MIRT627731)
- hsa-miR-5193 (MIRT627732)
- hsa-miR-6849-3p (MIRT627733)
- hsa-miR-508-5p (MIRT627734)
- hsa-miR-3145-5p (MIRT627735)
- hsa-miR-432-3p (MIRT654447)
- hsa-miR-6829-3p (MIRT654448)
- hsa-miR-6791-3p (MIRT654449)
- hsa-miR-6736-3p (MIRT654450)
- hsa-miR-185-3p (MIRT763172)
- hsa-miR-4722-3p (MIRT771500)
- hsa-miR-4763-5p (MIRT772028)
- hsa-miR-4769-3p (MIRT772182)
- hsa-miR-6727-3p (MIRT777902)
- hsa-miR-6798-5p (MIRT779378)
- hsa-miR-6805-5p (MIRT779530)
- hsa-miR-6817-5p (MIRT779824)
- hsa-miR-6829-5p (MIRT779993)
- hsa-miR-6846-5p (MIRT780225)
- hsa-miR-6848-5p (MIRT780234)
- hsa-miR-6882-3p (MIRT780880)
- hsa-miR-6894-3p (MIRT781276)
- hsa-miR-95-5p (MIRT782997)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAPGEF1
- Browse OriGene Inhibitory RNA Products For RAPGEF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEF1
Clone products for research
- Applied Biological Materials (abm): Clones for RAPGEF1 - Starting at $45 >
- * RAPGEF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG219461
- MG219462
- MG219463
- MR219461
- MR219461L3
- MR219461L4
- MR219462
- MR219462L3
- MR219462L4
- MR219463
- MR219463L3
- MR219463L4
- RC208092
- RC208092L3
- RC208092L4
- RC221671
- RC221671L3
- RC221671L4
- RG208092
- RG221671
- MR219461L3V
- MR219461L4V
- MR219462L3V
- MR219462L4V
- MR219463L3V
- MR219463L4V
- RC208092L3V
- RC208092L4V
- RC221671L3V
- RC221671L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RAPGEF1
- Addgene plasmids for RAPGEF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAPGEF1
Cell Lines for research
-
Horizon Cell Lines for RAPGEF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAPGEF1 Gene
Localization for RAPGEF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF1 Gene
- Early endosome.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 17515907 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA,IDA | 17724123 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030670 | phagocytic vesicle membrane | IEA | -- |
Pathways & Interactions for RAPGEF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling | ||
| 2 | Development HGF signaling pathway |
Development HGF signaling pathway
.44
Development Neurotrophin family signaling
.44
|
|
| 3 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
| 4 | MET promotes cell motility |
.45
|
|
| 5 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Development Thrombopoietin-regulated cell processes
.38
|
|
Pathways by source for RAPGEF1 Gene
18 BioSystems pathways for RAPGEF1 Gene
16 Reactome pathways for RAPGEF1 Gene
5 KEGG pathways for RAPGEF1 Gene
9 GeneGo (Thomson Reuters) pathways for RAPGEF1 Gene
- Cytoskeleton remodeling FAK signaling
- Development EPO-induced MAPK pathway
- Development HGF signaling pathway
- Development Neurotrophin family signaling
- Development Thrombopoietin-regulated cell processes
2 R&D Systems pathways for RAPGEF1 Gene
6 Qiagen pathways for RAPGEF1 Gene
- Epithelial Adherens Junctions
- HGF Pathway
- IGF1R Signaling
- Molecular Mechanisms of Cancer
- Paxillin Interactions
Interacting Proteins for RAPGEF1 Gene
Selected Interacting proteins:
Q13905-RPGF1_HUMAN
ENSP00000361263
for RAPGEF1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RAPGEF1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000186 | activation of MAPKK activity | TAS | -- |
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0007165 | signal transduction | NAS | 7512734 |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS | 7512734 |
| GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
Transcripts for RAPGEF1 Gene
mRNA/cDNA for RAPGEF1 Gene
- 7 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000372189 6085 nts (view in UCSC)
- ENST00000372190 6045 nts (view in UCSC)
- ENST00000372195 6256 nts (view in UCSC)
- ENST00000414781 957 nts (view in UCSC)
- ENST00000419442 683 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAPGEF1 - Starting at $85 >
- * RAPGEF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAPGEF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAPGEF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAPGEF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAPGEF1
- Browse OriGene Inhibitory RNA Products For RAPGEF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEF1
Clone products for research
- Applied Biological Materials (abm): Clones for RAPGEF1 - Starting at $45 >
- * RAPGEF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG219461
- MG219462
- MG219463
- MR219461
- MR219461L3
- MR219461L4
- MR219462
- MR219462L3
- MR219462L4
- MR219463
- MR219463L3
- MR219463L4
- RC208092
- RC208092L3
- RC208092L4
- RC221671
- RC221671L3
- RC221671L4
- RG208092
- RG221671
- MR219461L3V
- MR219461L4V
- MR219462L3V
- MR219462L4V
- MR219463L3V
- MR219463L4V
- RC208092L3V
- RC208092L4V
- RC221671L3V
- RC221671L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RAPGEF1
- Addgene plasmids for RAPGEF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAPGEF1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 20b | ^ | 21a | · | 21b | · | 21c | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: |
Relevant External Links for RAPGEF1 Gene
- GeneLoc Exon Structure for
- RAPGEF1
Expression for RAPGEF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Placenta (Extraembryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for RAPGEF1 Gene
This gene is overexpressed in Muscle - Skeletal (x4.6).
This gene is overexpressed in Peripheral blood mononuclear cells (23.3), CD8 Tcells (11.0), and Lymph node (10.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAPGEF1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAPGEF1
SOURCE GeneReport for Unigene cluster for RAPGEF1 Gene:
Hs.127897mRNA Expression by UniProt/SwissProt for RAPGEF1 Gene:
Q13905-RPGF1_HUMAN
Tissue specificity:
Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and placenta and in fetal brain and heart. Low levels of expression in adult and fetal liver.
Evidence on tissue expression from TISSUES for RAPGEF1 Gene
- Spleen(4.4)
- Skin(4.4)
- Liver(4.4)
- Nervous system(4)
- Blood(2.5)
- Kidney(2.5)
- Heart(2.5)
- Muscle(2.5)
- Intestine(2.4)
- Lymph node(2.2)
- Adrenal gland(2.2)
- Bone marrow(2)
Primer products for research
-
OriGene qPCR primer pairs for RAPGEF1
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPGEF1 Gene
Orthologs for RAPGEF1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RAPGEF1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RAPGEF1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RAPGEF1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rapgef1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rapgef1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RAPGEF1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RAPGEF1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RAPGEF1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RAPGEF1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rapgef1 30 |
|
||
| Str.2075 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | rapgef1a 30 31 |
|
OneToMany | |
| rapgef1b 31 |
|
OneToMany | |||
| zgc56372 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | C3G 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y34B4A.4 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SDC25 33 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for RAPGEF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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 Vase (Ciona intestinalis)
- 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 RAPGEF1 Gene
- ENSEMBL:
- Gene Tree for RAPGEF1 (if available)
- TreeFam:
- Gene Tree for RAPGEF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RAPGEF1: view image
Paralogs for RAPGEF1 Gene
Paralogs for RAPGEF1 Gene
(2) SIMAP similar genes for RAPGEF1 Gene using alignment to 14 proteins:
- RPGF1_HUMAN
- A5XEI4_HUMAN
- A5XEI5_HUMAN
- A5XEI6_HUMAN
- A5XEI7_HUMAN
- A5XEI8_HUMAN
- A5XEI9_HUMAN
- A5XEJ0_HUMAN
- A5XEJ1_HUMAN
- H0Y4V2_HUMAN
- H0Y6R4_HUMAN
- Q5JUE5_HUMAN
- Q5JUE6_HUMAN
- Q5JUE9_HUMAN
Variants for RAPGEF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAPGEF1 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs35658906 | Benign: not provided | 131,596,338(-) |
C/T NM_198679.1(RAPGEF1):c.2145G>A (p.Gly715=) |
SYNONYMOUS | |
| rs41297229 | Benign: not provided | 131,629,161(-) |
C/T NM_198679.1(RAPGEF1):c.837G>A (p.Thr279=) |
SYNONYMOUS | |
| rs869025251 | Uncertain Significance: Monoclonal B-Cell Lymphocytosis; not provided | 131,621,989(-) |
T/C NM_198679.1(RAPGEF1):c.1715A>G (p.Tyr572Cys) |
MISSENSE | |
| VAR_069375 | - |
p.Arg1012Gln |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1512e214 | CNV | gain | 21293372 |
| dgv4529e59 | CNV | duplication | 20981092 |
| esv2671200 | CNV | deletion | 23128226 |
| esv2739122 | CNV | deletion | 23290073 |
| esv2739123 | CNV | deletion | 23290073 |
| esv2739124 | CNV | deletion | 23290073 |
| esv2759718 | CNV | gain | 17122850 |
| esv3307312 | CNV | mobile element insertion | 20981092 |
| esv3621887 | CNV | loss | 21293372 |
| esv3621896 | CNV | gain | 21293372 |
| esv3621898 | CNV | gain | 21293372 |
| nsv518141 | CNV | gain | 19592680 |
| nsv615570 | CNV | loss | 21841781 |
| nsv6738 | CNV | insertion | 18451855 |
| nsv831742 | CNV | loss | 17160897 |
| nsv951792 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
5.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.86;
34.76% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RAPGEF1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEF1 Gene
Disorders for RAPGEF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| transient refractive change |
|
|
| hemolytic uremic syndrome, atypical 1 |
|
|
Search RAPGEF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RAPGEF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RAPGEF1 Gene
Publications for RAPGEF1 Gene
- RAPGEF1 gene variants associated with type 2 diabetes in the Korean population. (PMID: 19297053) Hong KW … Oh B (Diabetes research and clinical practice 2009) 3 23 41
- C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. (PMID: 7512734) Tanaka S … Nagashima K (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4
- Epac1 and PDZ-GEF cooperate in Rap1 mediated endothelial junction control. (PMID: 21840392) Pannekoek WJ … Bos JL (Cellular signalling 2011) 3 4
- Expression of the Rap1 guanine nucleotide exchange factor, MR-GEF, is altered in individuals with bipolar disorder. (PMID: 20436929) Bithell A … Williams BP (PloS one 2010) 3 23
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for RAPGEF1 Gene
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- VectorBuilder Viral vectors for RAPGEF1 (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 19 available GRF2 Antibodies ranked by validation data
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- Search Santa Cruz Biotechnology (SCBT) for RAPGEF1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RAPGEF1
- Custom Antibody ServicesProSci Antibodies for RAPGEF1
- Search for RAPGEF1 Proteins at ProSci
- Horizon Cell Lines for RAPGEF1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAPGEF1
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- Boster Bio Antibodies for RAPGEF1
- Browse Boster Bio ELISA Kits
Sources for RAPGEF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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- (80) MaxQB
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- (83) Illumina
- (84) COMPARTMENTS
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- (98) ProteomicsDB
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