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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 Rap-1b 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 and Depersonalization Disorder. Among its related pathways are RET signaling and Phospholipase-C Pathway. GO annotations related to this gene include GTP binding and protein complex binding. An important paralog of this gene is RAP1BL.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G068609 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +1.8 1832 6.7 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 NUP107 RAP1B FRS2 CPM LINC02384 MDM1 MDM2 IFNG GC12P068625
GH12G068783 1.6 FANTOM5 Ensembl ENCODE 15.2 +175.6 175585 5.2 HNRNPUL1 FOXA2 ATF1 ARID4B FEZF1 DMAP1 YY1 TCF12 SLC30A9 FOS MDM2 RAP1B CPM SLC35E3 LOC100130075 LOC105369820
GH12G068358 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -251.3 -251295 2.2 PKNOX1 ATF1 FEZF1 BRCA1 ZBTB7B YY1 ZNF121 GATA2 CBX5 ZNF143 MDM1 LINC02384 RAP1B LOC100507250 NUP107 RPL7P42 SNORA70G RPL10P12 ENSG00000256273 GC12P068422
GH12G069006 1.5 FANTOM5 Ensembl ENCODE 11.8 +397.1 397069 3.3 TBP PKNOX1 FEZF1 BRCA1 RFX5 SCRT2 SMARCC2 FOS DEK ZNF362 CPM FRS2 RAP1B LYZ CPSF6 MDM2 YEATS4 SLC35E3 NUP107 GC12M069009
GH12G068361 2 FANTOM5 Ensembl ENCODE dbSUPER 5 -245.5 -245501 7.0 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF143 FOS MDM1 LINC02384 SNORA70G RPL10P12 RPL7P42 NUP107 LOC100507250 RAP1B IFNG ENSG00000256273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000053644 761 2801 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS KLF13 SP3

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

Post-translational modifications for RAP1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for RAP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 18309292
GO:0005515 protein binding IPI 18309292
GO:0005525 GTP binding IDA,IEA 18309292
GO:0019003 GDP binding IDA 18309292
GO:0032403 protein complex binding IDA 23209302
genes like me logo Genes that share ontologies with RAP1B: view
genes like me logo Genes that share phenotypes with RAP1B: view

Human Phenotype Ontology for RAP1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAP1B Gene

MGI Knock Outs for RAP1B:

Animal Model Products

CRISPR Products

miRNA for RAP1B Gene

miRTarBase miRNAs that target RAP1B

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAP1B gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 4
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA,IDA --
GO:0005737 cytoplasm IEA --
GO:0005811 lipid particle IDA 14741744
GO:0005829 cytosol IEA,IDA 18582561
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with RAP1B: view

Pathways & Interactions for RAP1B Gene

SuperPathways for RAP1B Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
3 Focal Adhesion
4 Integrin alphaIIb beta3 signaling
5 Development HGF signaling pathway
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:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0008283 cell proliferation IEA --
GO:0030033 NOT microvillus assembly IMP 22797597
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAP1B Gene



NURSA nuclear receptor signaling pathways regulating expression of RAP1B Gene:

RAP1B

SOURCE GeneReport for Unigene cluster for RAP1B Gene:

Hs.369920

Evidence on tissue expression from TISSUES for RAP1B Gene

  • Nervous system(5)
  • Blood(4.8)
  • Lung(4.1)
  • Intestine(3.5)
  • Kidney(3.4)
  • Heart(3.2)
  • Spleen(3.1)
  • Skin(3)
  • Liver(2.9)
  • Muscle(2.5)
  • Thyroid gland(2.5)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with RAP1B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
oppossum
(Monodelphis domestica)
Mammalia RAP1B 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1B 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAP1B 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia RAP1B 34 35
  • 96.92 (n)
cow
(Bos Taurus)
Mammalia RAP1B 34 35
  • 95.83 (n)
mouse
(Mus musculus)
Mammalia Rap1b 34 16 35
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Rap1b 34
  • 90.04 (n)
chicken
(Gallus gallus)
Aves RAP1B 34 35
  • 90.94 (n)
lizard
(Anolis carolinensis)
Reptilia RAP1B 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rap1b 34
  • 85.14 (n)
Str.6536 34
African clawed frog
(Xenopus laevis)
Amphibia rap1b-prov 34
zebrafish
(Danio rerio)
Actinopterygii rap1b 34 35
  • 78.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta R 36 35
  • 90 (a)
Rap2l 36
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea rrp-1 36
  • 85 (a)
rap-1 34 35
  • 72.56 (n)
C25D7.7 36
  • 53 (a)
C08F8.7 36
  • 49 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12001g 34
  • 62.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 34
  • 60.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8837 35
  • 83 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8438 34
Species where no ortholog for RAP1B was found in the sources mined by GeneCards:
  • 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

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
rs1000100402 -- 68,638,833(+) TTTTT(A/G)TATTT intron-variant
rs1000135546 -- 68,622,078(+) TTGAC(C/T)TAGGT intron-variant
rs1000229791 -- 68,655,896(+) CCTTC(C/T)GTCCA intron-variant
rs1000242222 -- 68,617,380(+) CAAAA(C/T)GCAGG intron-variant
rs1000256142 -- 68,648,945(+) ATCTG(A/G)GTGGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2669961 CNV deletion 23128226
esv2762989 CNV loss 21179565
esv3629852 CNV gain 21293372
esv3629853 CNV loss 21293372
nsv1070535 CNV deletion 25765185
nsv522941 CNV gain 19592680
nsv952200 CNV duplication 24416366
nsv973087 CNV duplication 23825009
nsv973088 CNV duplication 23825009
nsv975511 CNV duplication 23825009

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)

Relevant External Links for RAP1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAP1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAP1B Gene

Disorders for RAP1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAP1B Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
depersonalization disorder
  • neurotic derealization
- 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. Mutation analysis of RAP1 gene in papillary thyroid carcinomas. (PMID: 18948674) Matsuse M. … Yamashita S. (Endocr. J. 2009) 3 22 46 64
  2. Structure of Epac2 in complex with a cyclic AMP analogue and RAP1B. (PMID: 18660803) Rehmann H. … Bos J.L. (Nature 2008) 3 4 22 64
  3. cAMP inhibition of Akt is mediated by activated and phosphorylated Rap1b. (PMID: 12089143) Lou L. … Altschuler D.L. (J. Biol. Chem. 2002) 2 3 22 64
  4. 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 64
  5. Structural basis for small G protein effector interaction of Ras- related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1). (PMID: 22577140) Li X. … Boggon T.J. (J. Biol. Chem. 2012) 3 4 64

Products for RAP1B Gene

Sources for RAP1B Gene

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