• Gene id: 10411

Gene Summary

• Gene Symbol: RAPGEF3   Gene   UCSC   Ensembl
• Aliases: CAMP-GEFI, EPAC, EPAC1, HSU79275, bcm910
• Gene name: Rap guanine nucleotide exchange factor 3
• Alternate names: rap guanine nucleotide exchange factor 3, 9330170P05Rik, EPAC 1, Rap guanine nucleotide exchange factor (GEF) 3, Rap1 guanine-nucleotide-exchange factor directly activated by cAMP, cAMP-regulated guanine nucleotide exchange factor I, exchange factor directly ac,
• Gene location: 12q13.11 (47758879: 47734362)     Exons: 29     NC_000012.12
• OMIM: 615495

Protein Summary

• Protein general information: O95398  
  • Name: Rap guanine nucleotide exchange factor 3 (Exchange factor directly activated by cAMP 1) (Exchange protein directly activated by cAMP 1) (EPAC 1) (Rap1 guanine nucleotide exchange factor directly activated by cAMP) (cAMP regulated guanine nucleotide exchan
  • Length: 923  
  • Mass: 103751
  • Tissue specificity: Widely expressed with highest levels in adult kidney, heart, thyroid and brain, and fetal kidney. {ECO
• Sequence:

  MKVGWPGESCWQVGLAVEDSPALGAPRVGALPDVVPEGTLLNMVLRRMHRPRSCSYQLLLEHQRPSCIQGLRWTP
  LTNSEESLDFSESLEQASTERVLRAGRQLHRHLLATCPNLIRDRKYHLRLYRQCCSGRELVDGILALGLGVHSRS
  QVVGICQVLLDEGALCHVKHDWAFQDRDAQFYRFPGPEPEPVRTHEMEEELAEAVALLSQRGPDALLTVALRKPP
  GQRTDEELDLIFEELLHIKAVAHLSNSVKRELAAVLLFEPHSKAGTVLFSQGDKGTSWYIIWKGSVNVVTHGKGL
  VTTLHEGDDFGQLALVNDAPRAATIILREDNCHFLRVDKQDFNRIIKDVEAKTMRLEEHGKVVLVLERASQGAGP
  SRPPTPGRNRYTVMSGTPEKILELLLEAMGPDSSAHDPTETFLSDFLLTHRVFMPSAQLCAALLHHFHVEPAGGS
  EQERSTYVCNKRQQILRLVSQWVALYGSMLHTDPVATSFLQKLSDLVGRDTRLSNLLREQWPERRRCHRLENGCG
  NASPQMKARNLPVWLPNQDEPLPGSSCAIQVGDKVPYDICRPDHSVLTLQLPVTASVREVMAALAQEDGWTKGQV
  LVKVNSAGDAIGLQPDARGVATSLGLNERLFVVNPQEVHELIPHPDQLGPTVGSAEGLDLVSAKDLAGQLTDHDW
  SLFNSIHQVELIHYVLGPQHLRDVTTANLERFMRRFNELQYWVATELCLCPVPGPRAQLLRKFIKLAAHLKEQKN
  LNSFFAVMFGLSNSAISRLAHTWERLPHKVRKLYSALERLLDPSWNHRVYRLALAKLSPPVIPFMPLLLKDMTFI
  HEGNHTLVENLINFEKMRMMARAARMLHHCRSHNPVPLSPLRSRVSHLHEDSQVARISTCSEQSLSTRSPASTWA
  YVQQLKVIDNQRELSRLSRELEP

• Structural information:
  • Protein Domains: (110..18-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (384..51-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (662..88-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:P-)
  • Interpro: IPR018490  IPR000595  IPR000591  IPR008937  IPR000651   IPR019804  IPR023578  IPR001895  IPR036964  IPR014710  IPR029071  IPR036388  IPR036390  
  • Prosite: PS50042 PS50186 PS00720 PS50009 PS50212
  • CDD: cd00038 cd00155 cd06224
  • STRING: ENSP00000395708
• Other Databases: GeneCards:  RAPGEF3  Malacards:  RAPGEF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0032486	Rap protein signal transduction	IMP	biological process
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030552	cAMP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0019933	cAMP-mediated signaling	NAS	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0030175	filopodium	IDA	cellular component
GO:0005902	microvillus	IDA	cellular component
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0046827	positive regulation of protein export from nucleus	IDA	biological process
GO:0030864	cortical actin cytoskeleton	IDA	colocalizes with
GO:0030027	lamellipodium	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0034242	negative regulation of syncytium formation by plasma membrane fusion	IMP	biological process
GO:1901985	positive regulation of protein acetylation	IMP	biological process
GO:0060143	positive regulation of syncytium formation by plasma membrane fusion	IMP	biological process
GO:2000615	regulation of histone H3-K9 acetylation	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04072	Phospholipase D signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04726	Serotonergic synapse
hsa04720	Long-term potentiation

Diseases

Associated diseases	References
congestive heart failure	PMID:18323524
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq