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RAP1A

Identity

HGNC (Hugo) RAP1A
Location 1p13.3
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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 hemopo•etic 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

Entity no implication in pathologies characterized so far
  

External links

Nomenclature
HGNC (Hugo)RAP1A   9855
Entrez_Gene (NCBI)RAP1A  5906  RAP1A, member of RAS oncogene family
Cards
AtlasRAP1AID272
GeneCards (Weizmann)RAP1A
Ensembl (Hinxton)ENSG00000116473 [Gene_View]  RAP1A [Vega]
AceView (NCBI)RAP1A
Genatlas (Paris)RAP1A
euGene (Indiana)5906
SOURCE (Stanford)NM_001010935 NM_002884
Gene Expression (Array Express) ENSG00000116473
Genomic and cartography
GoldenPath (UCSC)RAP1A  -  1p13.3
EnsemblRAP1A - [CytoView]
Mapping of homologs : NCBIRAP1A [Mapview]
OMIM179520   
Gene and transcription
Gene : Genbank (Entrez)AB051846 AB451235 AB451360 AF493912 AK293044
Reference sequence (RefSeq transcript) :SRSNM_001010935 NM_002884
Reference transcript : EntrezNM_001010935 NM_002884
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_032977 NW_001838594 NW_922462
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_032977 NW_001838594 NW_922462
Consensus coding sequences : CCDS NCBIRAP1A
Cluster EST : UnigeneHs.190334 [ SRS ] Hs.190334 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17056
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP62834 (SRS) P62834 (Expasy) P62834 (Uniprot)
With graphics : InterProP62834
Splice isoforms : VarSplice FASTAP62834(VarSplice FASTA)
Domaine pattern : Prosite (SRS)RAS (PS51421)   
Domain pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (SRS)GTPase_Ras    Ras    Ras_GTPase    Ras_small_GTPase    Small_GTP-bd   
Domains : Interpro (EBI)GTPase_Ras    Ras    Ras_GTPase    Ras_small_GTPase    Small_GTP-bd   
Related proteins : CluSTrP62834
Domain families : Pfam SRSRas (PF00071)   
Domain families : Pfam SangerRas (PF00071)   
Domain families : Pfam NCBIpfam00071   
Domain families : Smart EMBLRAS (SM00173)  
Blocks (Seattle)P62834
Crystal structure of protein : PDB SRS1C1Y    1GUA    3KUC   
Crystal structure of protein : PDBSum1C1Y    1GUA    3KUC   
Crystal structure of protein : IMB1C1Y    1GUA    3KUC   
Crystal structure of protein : PDB RSDB1C1Y    1GUA    3KUC   
Human Protein AtlasENSG00000116473
HPRD01545
Protein Interaction databases
DIP (DOE-UCLA)P62834
IntAct (EBI)P62834
FunCoupENSG00000116473
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIRAP1A
SNP : GeneSNP UtahRAP1A
SNP : HGBaseRAP1A
Genetic variants : HAPMAPRAP1A
Somatic Mutations in Cancer : COSMICRAP1A 
Mutations and Diseases : HGMDRAP1A
Hereditary diseases : OMIM179520   
Hereditary diseases : GENETests179520   
Diseases : Genetic AssociationRAP1A
General knowledge
Homologs : HomoloGeneRAP1A
Homology/Alignments : Family Browser UCSCRAP1A
Phylogenetic Trees/Animal Genes : TreeFamRAP1A
Chemical/Protein Interactions : CTD5906
Keywords Ontology : AmiGOnucleotide binding  GTPase activity  protein binding  GTP binding  intracellular  cytosol  plasma membrane  signal transduction  small GTPase mediated signal transduction  Ras GTPase binding  guanyl-nucleotide exchange factor complex  
Keywords Ontology : EGO-EBInucleotide binding  GTPase activity  protein binding  GTP binding  intracellular  cytosol  plasma membrane  signal transduction  small GTPase mediated signal transduction  Ras GTPase binding  guanyl-nucleotide exchange factor complex  
Pathways : BIOCARTAIntegrin Signaling Pathway [Genes]    Signaling of Hepatocyte Growth Factor Receptor [Genes]   
Pathways : KEGGLong-term potentiationLeukocyte transendothelial migrationFocal adhesionMAPK signaling pathway
Other databases
Probes
Probes : ImagenesRAP1A Related clones (RZPD - Berlin)
Literature
PubMed126 Pubmed reference(s) in Entrez
PubGeneRAP1A

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written05-2001Jean de Gunzburg
Laboratoire de Signalisation Intracellulaire et Oncogenèse INSERM U-528 Institut Curie Section de Recherche 26, rue d'Ulm, 75248 Paris Cedex 05, France

Citation

This paper should be referenced as such :
de Gunzburg J . RAP1A. Atlas Genet Cytogenet Oncol Haematol. May 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/RAP1AID272.html

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indexed on : Tue Aug 31 20:03:50 CEST 2010

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