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Aliases for RAP1B Gene

Aliases for RAP1B Gene

  • RAP1B, Member Of RAS Oncogene Family 2 3 5
  • GTP-Binding Protein Smg P21B 3 4
  • Ras Family Small GTP Binding Protein RAP1B 3
  • RAS-Related Protein RAP1B 3
  • Small GTP Binding Protein 3
  • K-Rev 3
  • RAL1B 3

External Ids for RAP1B Gene

Previous GeneCards Identifiers for RAP1B Gene

  • GC12P068809
  • GC12P068721
  • GC12P067290
  • GC12P069005
  • GC12P066093

Summaries for RAP1B Gene

Entrez Gene Summary for RAP1B Gene

  • This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]

GeneCards Summary for RAP1B Gene

RAP1B (RAP1B, Member Of RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAP1B include Kabuki Syndrome 1. Among its related pathways are Platelet activation and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include GTP binding and protein complex binding. An important paralog of this gene is RAP2B.

UniProtKB/Swiss-Prot for RAP1B Gene

  • GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function.

Gene Wiki entry for RAP1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAP1B Gene

Genomics for RAP1B Gene

Regulatory Elements for RAP1B Gene

Enhancers for RAP1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAP1B on UCSC Golden Path with GeneCards custom track

Promoters for RAP1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAP1B on UCSC Golden Path with GeneCards custom track

Genomic Location for RAP1B Gene

Chromosome:
12
Start:
68,610,839 bp from pter
End:
68,671,901 bp from pter
Size:
61,063 bases
Orientation:
Plus strand

Genomic View for RAP1B Gene

Genes around RAP1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAP1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAP1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1B Gene

Proteins for RAP1B Gene

  • Protein details for RAP1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61224-RAP1B_HUMAN
    Recommended name:
    Ras-related protein Rap-1b
    Protein Accession:
    P61224
    Secondary Accessions:
    • B2R5Z2
    • B4DQI8
    • B4DW74
    • B4DW94
    • P09526
    • Q502X3
    • Q5TZR4
    • Q6DCA1
    • Q6LES0

    Protein attributes for RAP1B Gene

    Size:
    184 amino acids
    Molecular mass:
    20825 Da
    Quaternary structure:
    • Heterodimer with RAP1GAP. Interacts with EPAC2, SGSM1, SGSM2 and SGSM3. Interacts with KRIT1.

    Three dimensional structures from OCA and Proteopedia for RAP1B Gene

    Alternative splice isoforms for RAP1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAP1B Gene

Proteomics data for RAP1B Gene at MOPED

Post-translational modifications for RAP1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAP1B (RAP1B)

No data available for DME Specific Peptides for RAP1B Gene

Domains & Families for RAP1B Gene

Gene Families for RAP1B Gene

Graphical View of Domain Structure for InterPro Entry

P61224

UniProtKB/Swiss-Prot:

RAP1B_HUMAN :
  • Belongs to the small GTPase superfamily. Ras family.
Family:
  • Belongs to the small GTPase superfamily. Ras family.
genes like me logo Genes that share domains with RAP1B: view

Function for RAP1B Gene

Molecular function for RAP1B Gene

GENATLAS Biochemistry:
RAP1B,Ras oncogene superfamily member
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by binding to the GTPase-activating protein RAP1GAP. Activated by guanine nucleotide-exchange factor (GEF) EPAC2 in a cAMP-dependent manner.
UniProtKB/Swiss-Prot Function:
GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function.
genes like me logo Genes that share phenotypes with RAP1B: view

Animal Models for RAP1B Gene

MGI Knock Outs for RAP1B:

Animal Model Products

miRNA for RAP1B Gene

miRTarBase miRNAs that target RAP1B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAP1B Gene

Localization for RAP1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAP1B Gene

Cell membrane. Cytoplasm, cytosol. Cell junction. Note=May shuttle between plasma membrane and cytosol. Presence of KRIT1 and CDH5 is required for its localization to the cell junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAP1B Gene COMPARTMENTS Subcellular localization image for RAP1B gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IDA 20332120
GO:0045121 NOT membrane raft IDA 18582561
genes like me logo Genes that share ontologies with RAP1B: view

Pathways & Interactions for RAP1B Gene

SuperPathways for RAP1B Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Focal Adhesion
3 Integrin alphaIIb beta3 signaling
4 Development HGF signaling pathway
5 Activation of cAMP-Dependent PKA
genes like me logo Genes that share pathways with RAP1B: view

SIGNOR curated interactions for RAP1B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007596 blood coagulation TAS --
GO:0030033 NOT microvillus assembly IMP 22797597
GO:0030168 platelet activation TAS --
GO:0032486 Rap protein signal transduction IMP 21840392
genes like me logo Genes that share ontologies with RAP1B: view

Drugs & Compounds for RAP1B Gene

(5) Drugs for RAP1B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(4) Additional Compounds for RAP1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAP1B: view

Transcripts for RAP1B Gene

Unigene Clusters for RAP1B Gene

RAP1B, member of RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAP1B Gene

No ASD Table

Relevant External Links for RAP1B Gene

GeneLoc Exon Structure for
RAP1B
ECgene alternative splicing isoforms for
RAP1B

Expression for RAP1B Gene

mRNA expression in normal human tissues for RAP1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAP1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.7), Neutrophil (12.2), Tlymphocyte (10.3), and Bone (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAP1B Gene



SOURCE GeneReport for Unigene cluster for RAP1B Gene Hs.369920

genes like me logo Genes that share expression patterns with RAP1B: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for RAP1B Gene

Orthologs for RAP1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAP1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAP1B 35
  • 95.83 (n)
  • 100 (a)
RAP1B 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAP1B 35
  • 96.92 (n)
  • 99.46 (a)
RAP1B 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rap1b 35
  • 91.67 (n)
  • 100 (a)
Rap1b 16
Rap1b 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAP1B 35
  • 99.82 (n)
  • 100 (a)
RAP1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rap1b 35
  • 90.04 (n)
  • 99.46 (a)
oppossum
(Monodelphis domestica)
Mammalia RAP1B 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1B 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAP1B 35
  • 90.94 (n)
  • 100 (a)
RAP1B 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAP1B 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rap1b 35
  • 85.14 (n)
  • 98.37 (a)
Str.6536 35
African clawed frog
(Xenopus laevis)
Amphibia rap1b-prov 35
zebrafish
(Danio rerio)
Actinopterygii rap1b 35
  • 78.99 (n)
  • 96.74 (a)
rap1b 36
  • 96 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta R 37
  • 90 (a)
Rap2l 37
  • 60 (a)
R 36
  • 86 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C08F8.7 37
  • 49 (a)
C25D7.7 37
  • 53 (a)
rrp-1 37
  • 85 (a)
rap-1 35
  • 72.56 (n)
  • 86.19 (a)
rap-1 36
  • 84 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12001g 35
  • 62.28 (n)
  • 61.08 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 35
  • 60.68 (n)
  • 60.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8438 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8837 36
  • 83 (a)
OneToMany
Species with no ortholog for RAP1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAP1B Gene

ENSEMBL:
Gene Tree for RAP1B (if available)
TreeFam:
Gene Tree for RAP1B (if available)

Paralogs for RAP1B Gene

Pseudogenes.org Pseudogenes for RAP1B Gene

genes like me logo Genes that share paralogs with RAP1B: view

Variants for RAP1B Gene

Sequence variations from dbSNP and Humsavar for RAP1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7298404 -- 68,633,173(+) AAACT(A/G)AGTTG intron-variant
rs7298734 -- 68,633,132(+) CATCA(A/G)AGTTC intron-variant
rs7299993 -- 68,658,466(+) TTTCA(A/G)CAGCC intron-variant
rs7302640 -- 68,632,060(+) TTTTT(C/T)CTTTT intron-variant
rs7302760 -- 68,632,115(+) TTTTT(G/T)GGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAP1B Gene

Variant ID Type Subtype PubMed ID
nsv522941 CNV Gain 19592680
esv2669961 CNV Deletion 23128226

Variation tolerance for RAP1B Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 1.02% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RAP1B Gene

Disorders for RAP1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAP1B Gene - From: Orphanet

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RAP1B in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAP1B

Genetic Association Database (GAD)
RAP1B
Human Genome Epidemiology (HuGE) Navigator
RAP1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAP1B
genes like me logo Genes that share disorders with RAP1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAP1B Gene

Publications for RAP1B Gene

  1. Nucleotide sequence of a human cDNA encoding a ras-related protein (rap1B). (PMID: 3137530) Pizon V. … Tavitian A. (Nucleic Acids Res. 1988) 2 3 4 67
  2. cAMP inhibition of Akt is mediated by activated and phosphorylated Rap1b. (PMID: 12089143) Lou L. … Altschuler D.L. (J. Biol. Chem. 2002) 2 3 23
  3. Role of the small GTPase Rap1 for integrin activity regulation in endothelial cells and angiogenesis. (PMID: 18805968) Carmona G. … Chavakis E. (Blood 2009) 3 23
  4. Mutation analysis of RAP1 gene in papillary thyroid carcinomas. (PMID: 18948674) Matsuse M. … Yamashita S. (Endocr. J. 2009) 3 23
  5. Phosphorylation-induced conformational changes in Rap1b: allosteric effects on switch domains and effector loop. (PMID: 19651783) Edreira M.M. … Altschuler D.L. (J. Biol. Chem. 2009) 3 23

Products for RAP1B Gene

Sources for RAP1B Gene

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