RAPGEF1 Gene
protein-coding GIFtS : 65
GC09M133441
Rap guanine nucleotide exchange factor (GEF) 1 (Previous name: guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: GRF2 )
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Aliases & Descriptions for RAPGEF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases C3G 1 , 2 , 5 DKFZp781P1719 2 GRF2 2 , 3 , 5 OTTHUMP00000064558 2
Descriptions C3G protein 3 CRK SH3-binding GNRP 3 Guanine nucleotide-releasing factor 2 2 , 3 Rap guanine nucleotide exchange factor (GEF) 1 2 Rap guanine nucleotide exchange factor 1 1 guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) 1 , 2
Search outside databases for aliases for RAPGEF1 genePrevious GC identifers: GC09M129729 GC09M131481
Summaries for RAPGEF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for RAPGEF1 : This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK bybinding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. Thissignaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, andcell transformation. Several alternatively spliced transcript variants of this gene have beendescribed, but the full-length nature of some variants has not been determined. [provided byRefSeq] UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 Function : Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH.Transduces signals from CRK to activate RAS
Gene Wiki entry for RAPGEF1
Genomic Location for RAPGEF1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the RAPGEF1 gene Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34.3 RAPGEF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M133441:
(about GC identifiers )
Start:
133,441,978 bp from pter
End:
133,605,282 bp from pter
Size:
163,305 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_035014.4 Proteins for RAPGEF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 (See
protein sequence )Recommended Name: Rap guanine nucleotide exchange factor 1 Size : 1077 amino acids; 120548 Da
Subunit : Interacts with CRK via its SH3-binding sites
Secondary accessions : Q5JUE4Alternative splicing : 2 isoforms : Q13905-1 Q13905-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_005303.2 NP_941372.1 ENSEMBL proteins: ENSP00000361269 ENSP00000361263 ENSP00000266110 ENSP00000338266 ENSP00000350315 ENSP00000361264 ENSP00000361265 ENSP00000381451 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for RAPGEF1: Assays for RAPGEF1:
Protein
Domains/ Families for RAPGEF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13905 ProtoNet protein and cluster: Q13905
1 Blocks protein family : IPB001895 Guanine-nucleotide dissociation stimulator CDC25 UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 Similarity : Contains 1 N-terminal Ras-GEF domainSimilarity : Contains 1 Ras-GEF domain
Gene Function for RAPGEF1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005312 Applied Biosystems Silencer ® siRNAs for RAPGEF1 Sigma-Aldrich siRNA for RAPGEF1 Sigma-Aldrich shRNA for RAPGEF1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005312                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005312                                  untagged cDNA clones in CMV expression vector (see all 3 ): BD140654  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_198679 UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 Function : Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH.Transduces signals from CRK to activate RAS
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Rapgef1) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for RAPGEF1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for RAPGEF1 (Your Favorite Gene powered by Ingenuity) (see all 8
) Gene Network CentralTM Interacting Genes and Proteins Network for RAPGEF1 5/57 Interacting proteins for RAPGEF1 (ENSP00000338266 3 Q13905 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 57
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
TAS 7512734 GO:0051056 regulation of small GTPase mediated signal transduction
IEA --
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Drugs & Compounds for RAPGEF1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for RAPGEF1
Browse Tocris compounds for RAPGEF1
Transcripts for RAPGEF1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005312 Sigma-Aldrich siRNA for RAPGEF1 Sigma-Aldrich shRNA for RAPGEF1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005312 NM_198679
REFSEQ mRNAs for RAPGEF1 gene (2 alternative transcripts): NM_005312.2 NM_198679.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005312 NM_198679
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005312                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005312                                  untagged cDNA clones in CMV expression vector (see all 3 ): BD140654  
Additional cDNA sequence: AJ420417.1 AK302763.1 BC041710.1 CR595928.1 CR749354.1 D21239.1 DQ925677.1 DQ925678.1 DQ925679.1 DQ925680.1 DQ925681.1 DQ925682.1 DQ925683.1 DQ925684.1
22 DOTS entries : DT.92431967 DT.316981 DT.100779638 DT.40122665 DT.100779639 DT.426595 DT.86851760 DT.92060025 DT.92431968 DT.40315725 DT.407004 DT.75183099 DT.92034621 DT.95347072 DT.100738450 DT.121160998 DT.92431972 DT.97781075 DT.100776031 DT.101954250 DT.92004610 DT.95270527
24/320 AceView cDNA sequences (see all 320
):AF467069 BM725619 BQ070501 T12646 BQ054243 BU521008 BC041710 CR595928 AW504921 BE882072 BU430359 W57969 AW500020 BQ894870 BX097548 T11437 BM914033 BG056481 AA300930 BX328263 BQ222795 BQ711000 BE018171 BQ924723
highest scoring ESTs for RAPGEF1 :D21239 AA761259 AI817130 N36445 AA086166 AA128426 AA258933 AA300930 AA318682 AA324476
Unigene Cluster for RAPGEF1: Rap guanine nucleotide exchange factor (GEF) 1 Hs.127897 [show with all ESTs ] Unigene Representative Sequence: NM_198679 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF1 (see all 8
) 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 :                                                    
ExUns: 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b SP1 :   -                         SP2 :   -                         SP3 :   -                         SP4 :                           SP5 :                          
About this scheme ECgene alternative splicing isoforms for RAPGEF1 8 Ensembl transcripts including schematic representations : ENST00000372195
ENST00000372189
ENST00000266110
ENST00000337036
ENST00000357686
ENST00000372190
ENST00000372191
ENST00000398415
Expression for RAPGEF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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RAPGEF1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for RAPGEF1 1 / 2 / 3
11 probe-sets matching RAPGEF1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.127897 Expression variation in blood from EXPOLDB for RAPGEF1
UniProtKB/Swiss-Prot: RPGF1_HUMAN, Q13905 Tissue specificity : Ubiquitously expressed in adult and fetus. Expression is high in adult skeletalmuscle and placenta and in fetal brain and heart. Low levels of expression in adult and fetalliver
Orthologs for RAPGEF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for RAPGEF1 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for RAPGEF1 ENSEMBL Gene Tree for RAPGEF1 Paralogs for RAPGEF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for RAPGEF1 gene SOS2 2 SOS1 2
SNPs/Variants for RAPGEF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for RAPGEF1 (up to first 250kb)
Disorders & Mutations for RAPGEF1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600303 Human Genome Epidemiology Navigator: RAPGEF1 (2 documents)
Medical News for RAPGEF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for RAPGEF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/48 PubMed articles for RAPGEF1 gene (see all 48
): C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. (PubMed id 7512734) 2, 3, 4 Tanaka S....Nagashima K. (1994) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins. (PubMed id 8662907) 3, 4 Matsuda M.... Kurata T. (1996) Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization. (PubMed id 7959692) 2, 3 Takai S....Matsuda M. (1994) Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk. (PubMed id 7806500) 3, 4 Knudsen B.... Hanafusa H. (1994) RAPGEF1 gene variants associated with type 2 diabetes in the Korean population. (PubMed id 19297053) 1, 3 Hong K.W....Oh B. (2009) Phosphorylated guanine nucleotide exchange factor C3G, induced by pervanadate and Src family kinases localizes to the Golgi and subcortical actin cytoskeleton. (PubMed id 15320955) 1, 3 Radha V....Swarup G. (2004) The WAVE2 complex regulates T cell receptor signaling to integrins via Abl- and CrkL-C3G-mediated activation of Rap1. (PubMed id 18809728) 3 Nolz J.C....Billadeau D.D. (2008) Rap1 activation is required for Fc gamma receptor-dependent phagocytosis. (PubMed id 18832707) 3 Chung J....Peters-Golden M. (2008) Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489) 3 Lu Y....Boer J.M. (2008)
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Genome Databases showing RAPGEF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing RAPGEF1
(According to HUGE )
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--
Specialized Databases showing RAPGEF1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for RAPGEF1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Recombinant Proteins (GRF2 ) Antibodies (GRF2 )
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