Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 | -- |
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 | -- |
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
|
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 | -- |
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: |
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 |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
transient refractive change |
|
|
hemolytic uremic syndrome, atypical 1 |
|
|