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RAP1A (RAP11, member of RAS oncogene family)

Written2001-05Jean de Gunzburg
Laboratoire de Signalisation Intracellulaire et Oncogenöse INSERM U-528 Institut Curie Section de Recherche 26, rue d'Ulm, 75248 Paris Cedex 05, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) RAP1A
HGNC Alias symbKREV-1
SMGP21
LocusID (NCBI) 5906
Atlas_Id 272
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 111619783 and ends at 111716695 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RAP1A.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAGI3 (1p13.2)::RAP1A (1p13.2)PCDH7 (4p15.1)::RAP1A (1p13.2)RAP1A (1p13.2)::CD2 (1p13.1)
RAP1A (1p13.2)::EIF4A3 (17q25.3)RAP1A (1p13.2)::EIF4G1 (3q27.1)RAP1A (1p13.2)::RAP1A (1p13.2)
RAP1A (1p13.2)::SEL1L (14q31.1)TRAM1 (8q13.3)::RAP1A (1p13.2)

DNA/RNA

 
Description 6 coding exons covering 18095 bp on chromosome 1

Protein

Description Rap1 is a member of the Ras superfamily of monomeric GTPases, closely related to Ras. There are two isoforms, Rap1A and Rap1B that share 95% identity and are encoded by two different genes. Rap1 proteins share 50% identity with Ras proteins, including the regions involved in GDP/GTP binding (hence Rap1A has very similar biochemical properties to Ras), C-terminal CAAX domain leading to prenylation (geranylgeranylation in the case of Rap1A), and effector region identical to that of Ras proteins causing Ras and Rap1 to share some potential effectors
Expression ubiquitous ; higher in brain and hemopoïetic tissues
Localisation Rap1 is bound to membranes. In many cell types, it is found in a perinuclear compartment overlapping the Golgi. Rap1 proteins (A and B) are phosphorylated near the C-ter by cAMP-dependent protein kinase. This results in translocation of part of the Rap1 pool to the cytosol.
Function The function of Rap1 is still a matter of debate. Its overexpression is able to compete with the activation of Raf-1 by active Ras. Active Rap1B has been shown to activate the B-Raf kinase and the MEK-ERK cascade. In several cellular models, Rap1 has been shown to be involved in the regulation of integrin-mediated cell adhesion.
Homology 95% to Rap1B, 60% identical to Rap2, 50 % to Ras proteins

Mutations

Germinal unknown

Implicated in

Note
  
Entity no implication in pathologies characterized so far
  

Bibliography

Rap1 signalling: adhering to new models.
Bos JL, de Rooij J, Reedquist KA
Nature reviews. Molecular cell biology. 2001 ; 2 (5) : 369-377.
PMID 11331911
 

Citation

This paper should be referenced as such :
Gunzburg, J de
RAP1A (RAP1A, member of RAS oncogene family)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):172-173.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(4;11)(q21;p15) NUP98::RAP1GDS1
t(4;11)(q23;p15) NUP98::RAP1GDS1


External links

 

Nomenclature
HGNC (Hugo)RAP1A   9855
Cards
AtlasRAP1AID272
Atlas Explorer : (Salamanque)RAP1A
Entrez_Gene (NCBI)RAP1A    RAP1A, member of RAS oncogene family
AliasesC21KG; G-22K; KREV-1; KREV1; 
RAP1; SMGP21
GeneCards (Weizmann)RAP1A
Ensembl hg19 (Hinxton)ENSG00000116473 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116473 [Gene_View]  ENSG00000116473 [Sequence]  chr1:111619783-111716695 [Contig_View]  RAP1A [Vega]
ICGC DataPortalENSG00000116473
TCGA cBioPortalRAP1A
AceView (NCBI)RAP1A
Genatlas (Paris)RAP1A
SOURCE (Princeton)RAP1A
Genetics Home Reference (NIH)RAP1A
Genomic and cartography
GoldenPath hg38 (UCSC)RAP1A  -     chr1:111619783-111716695 +  1p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAP1A  -     1p13.2   [Description]    (hg19-Feb_2009)
GoldenPathRAP1A - 1p13.2 [CytoView hg19]  RAP1A - 1p13.2 [CytoView hg38]
ImmunoBaseENSG00000116473
Genome Data Viewer NCBIRAP1A [Mapview hg19]  
OMIM179520   
Gene and transcription
Genbank (Entrez)AB051846 AB451235 AB451360 AF493912 AK023457
RefSeq transcript (Entrez)NM_001010935 NM_001291896 NM_001370216 NM_001370217 NM_001394066 NM_002884
Consensus coding sequences : CCDS (NCBI)RAP1A
Gene ExpressionRAP1A [ NCBI-GEO ]   RAP1A [ EBI - ARRAY_EXPRESS ]   RAP1A [ SEEK ]   RAP1A [ MEM ]
Gene Expression Viewer (FireBrowse)RAP1A [ Firebrowse - Broad ]
GenevisibleExpression of RAP1A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5906
GTEX Portal (Tissue expression)RAP1A
Human Protein AtlasENSG00000116473-RAP1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62834   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62834  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62834
PhosPhoSitePlusP62834
Domaine pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (EBI)P-loop_NTPase    Rap1    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Ras-type   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)RAP1A
PDB (RSDB)1C1Y    1GUA    3KUC    4KVG   
PDB Europe1C1Y    1GUA    3KUC    4KVG   
PDB (PDBSum)1C1Y    1GUA    3KUC    4KVG   
PDB (IMB)1C1Y    1GUA    3KUC    4KVG   
Structural Biology KnowledgeBase1C1Y    1GUA    3KUC    4KVG   
SCOP (Structural Classification of Proteins)1C1Y    1GUA    3KUC    4KVG   
CATH (Classification of proteins structures)1C1Y    1GUA    3KUC    4KVG   
SuperfamilyP62834
AlphaFold pdb e-kbP62834   
Human Protein Atlas [tissue]ENSG00000116473-RAP1A [tissue]
HPRD01545
Protein Interaction databases
DIP (DOE-UCLA)P62834
IntAct (EBI)P62834
BioGRIDRAP1A
STRING (EMBL)RAP1A
ZODIACRAP1A
Ontologies - Pathways
QuickGOP62834
Ontology : AmiGOGTPase activity  G protein activity  guanyl-nucleotide exchange factor activity  protein binding  GTP binding  cytoplasm  early endosome  late endosome  cytosol  plasma membrane  plasma membrane  nervous system development  endosome membrane  positive regulation of neuron projection development  GDP binding  microvillus assembly  cell junction  small GTPase binding  guanyl-nucleotide exchange factor complex  Rap protein signal transduction  Rap protein signal transduction  specific granule membrane  nerve growth factor signaling pathway  neuron projection  positive regulation of GTPase activity  protein-containing complex binding  positive regulation of protein kinase activity  perinuclear region of cytoplasm  establishment of endothelial barrier  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  cellular response to cAMP  cellular response to cAMP  protein localization to plasma membrane  sperm midpiece  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  glutamatergic synapse  glutamatergic synapse  regulation of cell junction assembly  cellular response to nerve growth factor stimulus  negative regulation of synaptic vesicle exocytosis  positive regulation of vasculogenesis  
Ontology : EGO-EBIGTPase activity  G protein activity  guanyl-nucleotide exchange factor activity  protein binding  GTP binding  cytoplasm  early endosome  late endosome  cytosol  plasma membrane  plasma membrane  nervous system development  endosome membrane  positive regulation of neuron projection development  GDP binding  microvillus assembly  cell junction  small GTPase binding  guanyl-nucleotide exchange factor complex  Rap protein signal transduction  Rap protein signal transduction  specific granule membrane  nerve growth factor signaling pathway  neuron projection  positive regulation of GTPase activity  protein-containing complex binding  positive regulation of protein kinase activity  perinuclear region of cytoplasm  establishment of endothelial barrier  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  cellular response to cAMP  cellular response to cAMP  protein localization to plasma membrane  sperm midpiece  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  glutamatergic synapse  glutamatergic synapse  regulation of cell junction assembly  cellular response to nerve growth factor stimulus  negative regulation of synaptic vesicle exocytosis  positive regulation of vasculogenesis  
Pathways : BIOCARTABIOCARTA_INTEGRINPATHWAY    BIOCARTA_METPATHWAY   
Pathways : KEGGKEGG_MAPK_SIGNALING    KEGG_CHEMOKINE_SIGNALING    KEGG_FOCAL_ADHESION    KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION    KEGG_LONG_TERM_POTENTIATION    KEGG_NEUROTROPHIN_SIGNALING    KEGG_RENAL_CELL_CARCINOMA   
REACTOMEP62834 [protein]
REACTOME PathwaysR-HSA-8875555 [pathway]   
NDEx NetworkRAP1A
Atlas of Cancer Signalling NetworkRAP1A
Wikipedia pathwaysRAP1A
Orthology - Evolution
OrthoDB5906
GeneTree (enSembl)ENSG00000116473
Phylogenetic Trees/Animal Genes : TreeFamRAP1A
Homologs : HomoloGeneRAP1A
Homology/Alignments : Family Browser (UCSC)RAP1A
Gene fusions - Rearrangements
Fusion : MitelmanMAGI3::RAP1A [1p13.2/1p13.2]  
Fusion : MitelmanRAP1A::CD2 [1p13.2/1p13.1]  
Fusion : FusionHubAPLP2--RAP1A    ARL13B--RAP1A    BCAR3--RAP1A    CDC73--RAP1A    COA1--RAP1A    DYNLT1--RAP1A    ENTPD1--RAP1A    HLA@--RAP1A    KDSR--RAP1A    MAGI3--RAP1A   
NEK7--RAP1A    PCDH7--RAP1A    PDCD10--RAP1A    PHTF1--RAP1A    PLCXD1--RAP1A    PPA2--RAP1A    PRPF39--RAP1A    PUM1--RAP1A    RAP1A--ABCD3    RAP1A--C1ORF162   
RAP1A--CD2    RAP1A--EIF4A3    RAP1A--EIF4G1    RAP1A--IFI16    RAP1A--RAP1A    RAP1A--RAP1AP    RAP1A--SEL1L    RAP1B--RAP1A    SARS--RAP1A    SCAF8--RAP1A   
SLC22A15--RAP1A    STAT5B--RAP1A    TRAM1--RAP1A    UFSP2--RAP1A   
Fusion : QuiverRAP1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAP1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAP1A
dbVarRAP1A
ClinVarRAP1A
MonarchRAP1A
1000_GenomesRAP1A 
Exome Variant ServerRAP1A
GNOMAD BrowserENSG00000116473
Varsome BrowserRAP1A
ACMGRAP1A variants
VarityP62834
Genomic Variants (DGV)RAP1A [DGVbeta]
DECIPHERRAP1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAP1A 
Mutations
ICGC Data PortalRAP1A 
TCGA Data PortalRAP1A 
Broad Tumor PortalRAP1A
OASIS PortalRAP1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAP1A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRAP1A
Mutations and Diseases : HGMDRAP1A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRAP1A
DgiDB (Drug Gene Interaction Database)RAP1A
DoCM (Curated mutations)RAP1A
CIViC (Clinical Interpretations of Variants in Cancer)RAP1A
Cancer3DRAP1A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179520   
Orphanet
DisGeNETRAP1A
MedgenRAP1A
Genetic Testing Registry RAP1A
NextProtP62834 [Medical]
GENETestsRAP1A
Target ValidationRAP1A
Huge Navigator RAP1A [HugePedia]
ClinGenRAP1A
Clinical trials, drugs, therapy
MyCancerGenomeRAP1A
Protein Interactions : CTDRAP1A
Pharm GKB GenePA34217
Pharm GKB PathwaysPA154423660   
PharosP62834
Clinical trialRAP1A
Miscellaneous
canSAR (ICR)RAP1A
HarmonizomeRAP1A
ARCHS4RAP1A
DataMed IndexRAP1A
Probes
Litterature
PubMed263 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRAP1A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:15:57 CET 2022

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