RAPGEF1 Rap guanine nucleotide exchange factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAPGEF1provided by HGNC
Official Full Name: Rap guanine nucleotide exchange factor 1provided by HGNC
Primary source: HGNC:HGNC:4568
See related: Ensembl:ENSG00000107263 MIM:600303; Vega:OTTHUMG00000020829
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: C3G; GRF2
Summary: 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]
Expression: Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 9q34.13

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	9	NC_000009.12 (131576770..131740068, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (134452157..134615364, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

our studies uncover novel mechanisms by which C3G controls key aspects of tumorigenesis.
Title: C3G knock-down enhances migration and invasion by increasing Rap1-mediated p38α activation, while it impairs tumor growth through p38α-independent mechanisms.
C3G/RAP1 activity is involved in the metastatic spread of epithelial ovarian cancer.
Title: The C3G/Rap1 pathway promotes secretion of MMP-2 and MMP-9 and is involved in serous ovarian cancer metastasis.
C3G plays an important role in platelet clotting through a mechanism involving its GEF activity and suggest that it might be also involved in neutrophil development.
Title: C3G transgenic mouse models with specific expression in platelets reveal a new role for C3G in platelet clotting through its GEF activity.
The possibility of cellular phospho-C3G (pC3G) being a substrate of the intracellular T-cell protein tyrosine phosphatase TC-PTP (PTPN2) using the human neuroblastoma cell line, was studied.
Title: TC-PTP dephosphorylates the guanine nucleotide exchange factor C3G (RapGEF1) and negatively regulates differentiation of human neuroblastoma cells.
Lyn controls spatial activation of Rap1 by recruiting the CrkL-C3G protein complex to the leading edge
Title: The non-receptor tyrosine kinase Lyn controls neutrophil adhesion by recruiting the CrkL-C3G complex and activating Rap1 at the leading edge.
found somatic demethylation of a relaxed-criterion CpG island (CGI-B) located in the first intron of RAPGEF1 in 40% of colon cancers and 8% of gastric cancers relative to their matching normal tissues that were always methylated
Title: Frequent somatic demethylation of RAPGEF1/C3G intronic sequences in gastrointestinal and gynecological cancer.
Data demonstrated that the polymorphism in TP53 (rs1042522) was associated with type 2 diabetes, and that potential interaction of TP53 (rs1042522) and RAPGEF1 (rs11243444), or NRF1 (rs1882095) increased the risk of type 2 diabetes.
Title: Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population.
significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder
Title: Expression of the Rap1 guanine nucleotide exchange factor, MR-GEF, is altered in individuals with bipolar disorder.
C3G overexpression induces neurite-like extensions in MDA-MB-231 and BT549 breast carcinoma cells and not in a variety of other cancer cell lines examined.
Title: Cytoskeletal remodeling by C3G to induce neurite-like extensions and inhibit motility in highly invasive breast carcinoma cells.
C3G as a novel target of c-Abl
Title: F-actin-binding domain of c-Abl regulates localized phosphorylation of C3G: role of C3G in c-Abl-mediated cell death.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Rap guanine nucleotide exchange factor 1 (RAPGEF1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
Downstream signal transduction, organism-specific biosystem (from REACTOME)
Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
E-cadherin signaling in the nascent adherens junction
EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
EPO signaling pathway, organism-specific biosystem
EPO signaling pathway
Focal Adhesion, organism-specific biosystem (from WikiPathways)
Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, organism-specific biosystem (from KEGG)
Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, conserved biosystem (from KEGG)
Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Frs2-mediated activation, organism-specific biosystem (from REACTOME)
Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
IFN-gamma pathway, organism-specific biosystem (from Pathway Interaction Database)
IFN-gamma pathway, organism-specific biosystem
IFN-gamma pathway
IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-3 Signaling Pathway, organism-specific biosystemInterleukin 3 (IL-3) is a potent growth factor belonging to the super family of cytokines. IL-3 is a 20- 32kDa glycoprotein involved in the process of hematopoiesis. It is involved in the proliferati...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
Insulin Pathway, organism-specific biosystem
Insulin Pathway
Insulin Signaling, organism-specific biosystem (from WikiPathways)
Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
Insulin signaling pathway, organism-specific biosystem (from KEGG)
Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin signaling pathway, conserved biosystem (from KEGG)
Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
Interferon type I signaling pathways, organism-specific biosystem (from WikiPathways)
Interferon type I signaling pathways, organism-specific biosystemThe type I IFNs (IFN? family, IFN?, IFN?, IFN? and IFN?) all bind to and signal via the type I IFN receptor complex. The type I receptor consists of two main IFNAR1, IFNAR2c receptor chains and other...
Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
MET activates RAP1 and RAC1, organism-specific biosystem (from REACTOME)
MET activates RAP1 and RAC1, organism-specific biosystemThe adapter protein GAB1 is involved in recruitment, through CRK and related CRKL proteins, of guanyl nucleotide exchange factors (GEFs) to the activated MET receptor. MET-associated GEFs, such as RA...
MET promotes cell motility, organism-specific biosystem (from REACTOME)
MET promotes cell motility, organism-specific biosystemDirect and indirect interactions of MET with integrins, focal adhesion kinase PTK2 (FAK1), tensin-4 (TNS4) and GTPases RAP1 and RAC1, induce morphological changes that promote cell motility and play ...
NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
Nectin adhesion pathway, organism-specific biosystem
Nectin adhesion pathway
Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
Neurotrophic factor-mediated Trk receptor signaling
Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
Neurotrophin signaling pathway, conserved biosystem (from KEGG)
Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
PDGFR-alpha signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
PDGFR-alpha signaling pathway, organism-specific biosystem
PDGFR-alpha signaling pathway
Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
Rap1 signaling pathway, organism-specific biosystem (from KEGG)
Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
Rap1 signaling pathway, conserved biosystem (from KEGG)
Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
Reelin signaling pathway, organism-specific biosystem
Reelin signaling pathway
Regulation of signaling by CBL, organism-specific biosystem (from REACTOME)
Regulation of signaling by CBL, organism-specific biosystemCbl is an E3 ubiquitin-protein ligase that negatively regulates signaling pathways by targeting proteins for ubiquitination and proteasomal degradation (Rao et al. 2002). Cbl negatively regulates PI3...
Renal cell carcinoma, organism-specific biosystem (from KEGG)
Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Renal cell carcinoma, conserved biosystem (from KEGG)
Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Interleukins, organism-specific biosystem (from REACTOME)
Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
Signaling by MET, organism-specific biosystem (from REACTOME)
Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
Signaling by PDGF, organism-specific biosystem (from REACTOME)
Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by focal adhesion kinase, organism-specific biosystem
Signaling events mediated by focal adhesion kinase
Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem (from WikiPathways)
Signaling of Hepatocyte Growth Factor Receptor, organism-specific biosystem
Signaling of Hepatocyte Growth Factor Receptor
Signalling by NGF, organism-specific biosystem (from REACTOME)
Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
Signalling to ERKs, organism-specific biosystem (from REACTOME)
Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11721 (e-PCR)
- UniSTS:8448

SHGC-34480 (e-PCR)
- UniSTS:791

D12S288 (e-PCR)
- UniSTS:8988

RH70308 (e-PCR)
- UniSTS:5406

RH48515 (e-PCR)
- UniSTS:14656

A002Q14 (e-PCR)
- UniSTS:54080

SHGC-147667 (e-PCR)
- UniSTS:175941

G60020 (e-PCR)
- UniSTS:137286

STS-D21239 (e-PCR)
- UniSTS:75875

SHGC-85759 (e-PCR)
- UniSTS:103783

D1S3697 (e-PCR)
- UniSTS:474275

RH16486 (e-PCR)
- UniSTS:70628

SHGC-148792 (e-PCR)
- UniSTS:176612

RH65780 (e-PCR)
- UniSTS:26101

SHGC-84926 (e-PCR)
- UniSTS:104957

D9S2054 (e-PCR)
- UniSTS:8447

Homology

Homologs of the RAPGEF1 gene: The RAPGEF1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 236 organisms have orthologs with human gene RAPGEF1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
Rap guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
Rap guanyl-nucleotide exchange factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
SH3 domain binding	IEA Inferred from Electronic Annotation more info
guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Rap protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
activation of MAPKK activity	TAS Traceable Author Statement more info
blood vessel development	IEA Inferred from Electronic Annotation more info
cell-cell adhesion	IEA Inferred from Electronic Annotation more info
cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
cellular response to nerve growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
cytokine-mediated signaling pathway	TAS Traceable Author Statement more info
establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
negative regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase B signaling	IEA Inferred from Electronic Annotation more info
nerve growth factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
regulation of cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction	NAS Non-traceable Author Statement more info	PubMed
transmembrane receptor protein tyrosine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
early endosome	IDA Inferred from Direct Assay more info	PubMed
endosome	TAS Traceable Author Statement more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rap guanine nucleotide exchange factor 1

Names: CRK SH3-binding GNRP; Rap guanine nucleotide exchange factor (GEF) 1; guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)

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.

Genomic

NG_050622.1 RefSeqGene

Range

5001..168175

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304275.1 → NP_001291204.1 rap guanine nucleotide exchange factor 1 isoform c

See identical proteins and their annotated locations for NP_001291204.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5'-terminal exon which results in a distinct 5' UTR and 5' coding region, compared to variant 2. The encoded isoform (c) has a shorter and distinct N-terminus, compared to isoform b.

Source sequence(s)

AA761516, BC041710, BF058595, BQ772947, CN360609, CR749354

Consensus CDS

CCDS78450.1

UniProtKB/Swiss-Prot

Q13905

Related

ENSP00000361269.1, OTTHUMP00000022420, ENST00000372195.5, OTTHUMT00000054760

Conserved Domains (2) summary

smart00147
Location:853 → 1082

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:705 → 846

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
NM_005312.3 → NP_005303.2 rap guanine nucleotide exchange factor 1 isoform a

See identical proteins and their annotated locations for NP_005303.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate 5'-terminal exon which results in a distinct 5' UTR and 5' coding region, compared to variant 2. The encoded isoform (a) has a shorter and distinct N-terminus, compared to isoform b.

Source sequence(s)

AJ420417, BC041710, BQ054243, BQ772947, D21239

Consensus CDS

CCDS48047.1

UniProtKB/Swiss-Prot

Q13905

Related

ENSP00000361263.2, OTTHUMP00000022419, ENST00000372189.7, OTTHUMT00000054759

Conserved Domains (2) summary

smart00147
Location:836 → 1065

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:688 → 829

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
NM_198679.1 → NP_941372.1 rap guanine nucleotide exchange factor 1 isoform b

See identical proteins and their annotated locations for NP_941372.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (b).

Source sequence(s)

AJ420417, BC041710, BG429001, BG546427, BQ054243, BQ772947

Consensus CDS

CCDS48048.1

UniProtKB/Swiss-Prot

Q13905

Related

ENSP00000361264.3, OTTHUMP00000279305, ENST00000372190.7, OTTHUMT00000484311

Conserved Domains (2) summary

smart00147
Location:854 → 1083

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:706 → 847

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p12 Primary Assembly

Range

131576770..131740068 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005272186.4 → XP_005272243.1 rap guanine nucleotide exchange factor 1 isoform X6

See identical proteins and their annotated locations for XP_005272243.1

Conserved Domains (2) summary

smart00147
Location:1023 → 1252

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:875 → 1016

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_005272191.3 → XP_005272248.1 rap guanine nucleotide exchange factor 1 isoform X14

Conserved Domains (2) summary

smart00147
Location:985 → 1214

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:837 → 978

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518572.2 → XP_011516874.1 rap guanine nucleotide exchange factor 1 isoform X4

Conserved Domains (2) summary

smart00147
Location:1031 → 1260

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:883 → 1024

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_017014633.1 → XP_016870122.1 rap guanine nucleotide exchange factor 1 isoform X8
XM_011518573.3 → XP_011516875.1 rap guanine nucleotide exchange factor 1 isoform X7

Conserved Domains (2) summary

smart00147
Location:1014 → 1243

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:866 → 1007

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518571.2 → XP_011516873.1 rap guanine nucleotide exchange factor 1 isoform X3

Conserved Domains (2) summary

smart00147
Location:1032 → 1261

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:884 → 1025

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518569.3 → XP_011516871.1 rap guanine nucleotide exchange factor 1 isoform X1

Conserved Domains (2) summary

smart00147
Location:1037 → 1266

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:889 → 1030

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_024447521.1 → XP_024303289.1 rap guanine nucleotide exchange factor 1 isoform X23

Conserved Domains (3) summary

smart00147
Location:852 → 1081

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:704 → 845

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

cl26464
Location:196 → 454

Atrophin-1; Atrophin-1 family
XM_006717072.3 → XP_006717135.1 rap guanine nucleotide exchange factor 1 isoform X13

Conserved Domains (2) summary

smart00147
Location:991 → 1220

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:843 → 984

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_006717074.3 → XP_006717137.1 rap guanine nucleotide exchange factor 1 isoform X22

Conserved Domains (2) summary

smart00147
Location:859 → 1088

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:711 → 852

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_006717067.3 → XP_006717130.1 rap guanine nucleotide exchange factor 1 isoform X5

Conserved Domains (2) summary

smart00147
Location:1029 → 1258

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:881 → 1022

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518579.3 → XP_011516881.1 rap guanine nucleotide exchange factor 1 isoform X21

Conserved Domains (2) summary

smart00147
Location:867 → 1096

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:719 → 860

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518578.3 → XP_011516880.1 rap guanine nucleotide exchange factor 1 isoform X20

Conserved Domains (2) summary

smart00147
Location:898 → 1127

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:750 → 891

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_017014638.2 → XP_016870127.1 rap guanine nucleotide exchange factor 1 isoform X16
XM_017014637.2 → XP_016870126.1 rap guanine nucleotide exchange factor 1 isoform X15
XM_011518577.3 → XP_011516879.1 rap guanine nucleotide exchange factor 1 isoform X19

Conserved Domains (2) summary

smart00147
Location:919 → 1148

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:771 → 912

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518575.3 → XP_011516877.1 rap guanine nucleotide exchange factor 1 isoform X10

Conserved Domains (2) summary

smart00147
Location:1005 → 1234

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:857 → 998

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518570.3 → XP_011516872.1 rap guanine nucleotide exchange factor 1 isoform X2

Conserved Domains (2) summary

smart00147
Location:1036 → 1265

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:888 → 1029

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_011518576.3 → XP_011516878.1 rap guanine nucleotide exchange factor 1 isoform X18

Conserved Domains (2) summary

smart00147
Location:920 → 1149

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:772 → 913

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_017014639.2 → XP_016870128.1 rap guanine nucleotide exchange factor 1 isoform X17
XM_011518574.3 → XP_011516876.1 rap guanine nucleotide exchange factor 1 isoform X9

Conserved Domains (2) summary

smart00147
Location:1006 → 1235

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

smart00229
Location:858 → 999

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
XM_017014635.2 → XP_016870124.1 rap guanine nucleotide exchange factor 1 isoform X11
XM_017014636.2 → XP_016870125.1 rap guanine nucleotide exchange factor 1 isoform X12
XM_017014634.1 → XP_016870123.1 rap guanine nucleotide exchange factor 1 isoform X11
XM_017014640.2 → XP_016870129.1 rap guanine nucleotide exchange factor 1 isoform X24
XM_017014641.2 → XP_016870130.1 rap guanine nucleotide exchange factor 1 isoform X25
XM_011518580.3 → XP_011516882.1 rap guanine nucleotide exchange factor 1 isoform X26

Conserved Domains (1) summary

PHA03247
Location:242 → 500

PHA03247; large tegument protein UL36; Provisional
XM_011518581.3 → XP_011516883.1 rap guanine nucleotide exchange factor 1 isoform X27

Conserved Domains (1) summary

PHA03247
Location:242 → 500

PHA03247; large tegument protein UL36; Provisional
XM_011518582.3 → XP_011516884.1 rap guanine nucleotide exchange factor 1 isoform X28

Conserved Domains (1) summary

PHA03247
Location:242 → 500

PHA03247; large tegument protein UL36; Provisional