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RAPGEF5 (Rap guanine nucleotide exchange factor 5)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9771
Gene nameGene Name - the full gene name approved by the HGNC.
Rap guanine nucleotide exchange factor 5
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RAPGEF5
SynonymsGene synonyms aliases
GFR, MR-GEF, MRGEF, REPAC
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.3
SummarySummary of gene provided in NCBI Entrez Gene.
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve a
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1290865 hsa-miR-101 CLIP-seq
MIRT1290866 hsa-miR-103a CLIP-seq
MIRT1290867 hsa-miR-107 CLIP-seq
MIRT1290868 hsa-miR-1208 CLIP-seq
MIRT1290869 hsa-miR-1270 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10486569
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS 10934204
GO:0005634 Component Nucleus IDA 10486569
GO:0005654 Component Nucleoplasm IDA
GO:0007264 Process Small GTPase mediated signal transduction NAS 10486569
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92565
Protein name Rap guanine nucleotide exchange factor 5 (Guanine nucleotide exchange factor for Rap1) (M-Ras-regulated Rap GEF) (MR-GEF) (Related to Epac) (Repac)
Protein function Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.
PDB 1WGY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N
71 176
RasGEF N-terminal motif
Domain
PF00617 RasGEF
348 525
RasGEF domain
Family
Sequence
MGSSRLRVFDPHLERKDSAAALSDRELPLPTFDVPYFKYIDEEDEDDEWSSRSQSSTEDD
SVDSLLSDRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQ
ALLRHYSAKKYQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTIY
RNVL
DDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHRGTVTET
EEIFCHVYITEHSYVSVKAKVSSIAQEILKVVAEKIQYAEEDLALVAITFSGEKHELQPN
DLVISKSLEASGRIYVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSL
FNSIHEQELIYFTFSRQGSGEHTANLSLLLQRCNEVQLWVATEILLCSQLGKRVQLVKKF
IKIAAHCKAQRNLNSFFAIVMGLNTASVSRLSQTWEKIPGKFKKLFSELESLTDPSLNHK
AYRDAFKKMKPPKIPFMPLLLKDVTFIHEGNKTFLDNLVNFEKLH
MIADTVRTLRHCRTN
QFGDLSPKEHQELKSYVNHLYVIDSQQALFELSHRIEPRV
Sequence length 580
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Ras signaling pathway
Rap1 signaling pathway
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 30104761
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 20436929
Mental depression Unipolar Depression, Major Depressive Disorder rs587778876, rs587778877 20436929, 20436929, 30219690

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