Human Gene RAP1B (ENST00000250559.14_4) from GENCODE V47lift37
  Description: RAP1B, member of RAS oncogene family, transcript variant 1 (from RefSeq NM_015646.6)
Gencode Transcript: ENST00000250559.14_4
Gencode Gene: ENSG00000127314.18_16
Transcript (Including UTRs)
   Position: hg19 chr12:69,004,679-69,065,681 Size: 61,003 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr12:69,042,505-69,050,967 Size: 8,463 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:69,004,679-69,065,681)mRNA (may differ from genome)Protein (184 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAP1B_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rap-1b; AltName: Full=GTP-binding protein smg p21B; Flags: Precursor;
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.
ENZYME REGULATION: Activated by binding to the GTPase-activating protein RAP1GAP. Activated by guanine nucleotide-exchange factor (GEF) EPAC2 in a cAMP-dependent manner.
SUBUNIT: Heterodimer with RAP1GAP. Interacts with EPAC2, SGSM1, SGSM2 and SGSM3. Interacts with KRIT1.
SUBCELLULAR LOCATION: 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.
SIMILARITY: Belongs to the small GTPase superfamily. Ras family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAP1BID273.html";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/rap1b/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAP1B
Diseases sorted by gene-association score: kabuki syndrome 1* (175), depersonalization disorder (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.00 RPKM in Artery - Tibial
Total median expression: 550.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.50171-0.371 Picture PostScript Text
3' UTR -4009.4012652-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR020849 - Small_GTPase_Ras

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3BRW - X-ray MuPIT 3CF6 - X-ray MuPIT 4DXA - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61224
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019003 GDP binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0008283 cell proliferation
GO:0009743 response to carbohydrate
GO:0032486 Rap protein signal transduction
GO:0035690 cellular response to drug
GO:0035722 interleukin-12-mediated signaling pathway
GO:0043312 neutrophil degranulation
GO:0045955 negative regulation of calcium ion-dependent exocytosis
GO:0061028 establishment of endothelial barrier
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071320 cellular response to cAMP
GO:0071407 cellular response to organic cyclic compound
GO:0097211 cellular response to gonadotropin-releasing hormone
GO:1901888 regulation of cell junction assembly
GO:2000114 regulation of establishment of cell polarity
GO:2000301 negative regulation of synaptic vesicle exocytosis
GO:0030033 microvillus assembly

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0030054 cell junction
GO:0035577 azurophil granule membrane
GO:0070062 extracellular exosome
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  AK312371 - Homo sapiens cDNA, FLJ92694, Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), mRNA.
BC078173 - Homo sapiens RAP1B, member of RAS oncogene family, mRNA (cDNA clone MGC:87966 IMAGE:6015817), complete cds.
AK316447 - Homo sapiens cDNA, FLJ79346 complete cds, highly similar to Ras-related protein Rap-1b precursor.
AJ420497 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1916608.
AK316543 - Homo sapiens cDNA, FLJ79442 complete cds, highly similar to Ras-related protein Rap-1b precursor.
AK298818 - Homo sapiens cDNA FLJ51696 complete cds, highly similar to Ras-related protein Rap-1b precursor.
AK301401 - Homo sapiens cDNA FLJ50711 complete cds, moderately similar to Ras-related protein Rap-1b precursor.
AK301428 - Homo sapiens cDNA FLJ50714 complete cds, moderately similar to Ras-related protein Rap-1b precursor.
AL080212 - Homo sapiens mRNA; cDNA DKFZp586H0723 (from clone DKFZp586H0723).
AK311559 - Homo sapiens cDNA, FLJ18601.
BC095467 - Homo sapiens RAP1B, member of RAS oncogene family, mRNA (cDNA clone MGC:111368 IMAGE:30523718), complete cds.
AB062128 - Homo sapiens OK/SW-cl.11 mRNA for RAS oncogene family member RAP1B, complete cds.
BC000176 - Homo sapiens RAP1B, member of RAS oncogene family, mRNA (cDNA clone MGC:5214 IMAGE:2900837), complete cds.
AF279894 - Homo sapiens PNAS-140 mRNA, partial cds.
JD195842 - Sequence 176866 from Patent EP1572962.
JD057470 - Sequence 38494 from Patent EP1572962.
JD156379 - Sequence 137403 from Patent EP1572962.
X08004 - Human mRNA for Rap1B protein.
JD021224 - Sequence 2248 from Patent EP1572962.
AM393243 - Synthetic construct Homo sapiens clone IMAGE:100002490 for hypothetical protein (RAP1B gene).
DQ583925 - Homo sapiens piRNA piR-51037, complete sequence.
AB463211 - Synthetic construct DNA, clone: pF1KB8620, Homo sapiens RAP1B gene for RAP1B, member of RAS oncogene family, without stop codon, in Flexi system.
CR407689 - Homo sapiens full open reading frame cDNA clone RZPDo834E013D for gene RAP1B, RAP1B, member of RAS oncogene family complete cds, without stopcodon.
BT020093 - Homo sapiens RAP1B, member of RAS oncogene family mRNA, complete cds.
AF493913 - Homo sapiens Ras family small GTP binding protein RAP1B (RAL1B) mRNA, complete cds.
JD031894 - Sequence 12918 from Patent EP1572962.
AK127392 - Homo sapiens cDNA FLJ45481 fis, clone BRTHA2001370.
JD202006 - Sequence 183030 from Patent EP1572962.
JD082896 - Sequence 63920 from Patent EP1572962.
JD438714 - Sequence 419738 from Patent EP1572962.
JD163078 - Sequence 144102 from Patent EP1572962.
JD281050 - Sequence 262074 from Patent EP1572962.
JD165998 - Sequence 147022 from Patent EP1572962.
JD260710 - Sequence 241734 from Patent EP1572962.
JD090757 - Sequence 71781 from Patent EP1572962.
JD101922 - Sequence 82946 from Patent EP1572962.
JD185863 - Sequence 166887 from Patent EP1572962.
JD481354 - Sequence 462378 from Patent EP1572962.
JD481355 - Sequence 462379 from Patent EP1572962.
JD489080 - Sequence 470104 from Patent EP1572962.
JD396175 - Sequence 377199 from Patent EP1572962.
JD514084 - Sequence 495108 from Patent EP1572962.
JD070106 - Sequence 51130 from Patent EP1572962.
JD416224 - Sequence 397248 from Patent EP1572962.
JD397132 - Sequence 378156 from Patent EP1572962.
JD414971 - Sequence 395995 from Patent EP1572962.
JD312193 - Sequence 293217 from Patent EP1572962.
JD346680 - Sequence 327704 from Patent EP1572962.
JD466378 - Sequence 447402 from Patent EP1572962.
JD425263 - Sequence 406287 from Patent EP1572962.
JD370176 - Sequence 351200 from Patent EP1572962.
JD264179 - Sequence 245203 from Patent EP1572962.
JD438897 - Sequence 419921 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_metPathway - Signaling of Hepatocyte Growth Factor Receptor
h_ephA4Pathway - Eph Kinases and ephrins support platelet aggregation

Reactome (by CSHL, EBI, and GO)

Protein P61224 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-354173 Activation of Rap1 by cytosolic GEFs
R-HSA-939265 Activation of Rap1 by membrane-associated GEFs
R-HSA-8875568 RAPGEF1 activates RAP1
R-HSA-392513 Rap1 signal termination by Rap1GAPs
R-HSA-354060 Translocation of RIAM to plasma membrane
R-HSA-392835 Rap1 sequesters Raf1 to inhibit ERK cascade
R-HSA-354097 Activation of Talin
R-HSA-354077 Integrin alphaIIb beta3 activation
R-HSA-354149 Interaction of integrin alphaIIb beta3 with Fibrinogen
R-HSA-432096 Activated integrin alphaIIb beta3 binds SHC1
R-HSA-377643 Dephosphorylation of inactive SRC by PTPB1
R-HSA-377644 Release of CSK from SRC
R-HSA-377641 Clustering of Integrin alphaIIb beta3 complexes
R-HSA-377640 Autophosphorylation of SRC
R-HSA-354066 Translocation of FADK1 to Focal complexes
R-HSA-429415 SYK binds to integrin alphaIIb beta3
R-HSA-354087 Recruitment of GRB2 to p-FADK1
R-HSA-372705 Recruitment of p130Cas to FADK1
R-HSA-354124 Phosphorylation of pFADK1 by SRC
R-HSA-354073 Autophosphorylation of FADK1 at Y397
R-HSA-429441 SYK activation by SRC
R-HSA-354165 Interaction of SOS with GRB2 bound to FADK1
R-HSA-372697 Crk binding to p130cas
R-HSA-372693 Phosphorylation of p130Cas by SRC-FADK1 complex
R-HSA-5672972 MAP2Ks and MAPKs bind to the activated RAF complex
R-HSA-6802912 High kinase activity BRAF mutants bind MAP2Ks and MAPKs
R-HSA-6802914 RAS:GTP:moderate kinase activity p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802925 Mutant RAS:p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802942 RAS:GTP:p-RAF complexes paradoxically bind MAP2Ks and MAPKs
R-HSA-5672980 Dissociation of RAS:RAF complex
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6803227 Dissociation of high activity BRAF complexes
R-HSA-6803230 Dissociation of moderate activity BRAF complexes
R-HSA-6803233 Dissociation of oncogenic RAS:RAF complex
R-HSA-6803234 Dissociation of paradoxically activated RAS:BRAF complexes
R-HSA-5672978 RAF phosphorylates MAP2K dimer
R-HSA-5672973 MAP2Ks phosphorylate MAPKs
R-HSA-6802918 Activated MAP2Ks phosphorylate MAPKs downstream of inactive BRAF mutants
R-HSA-6802943 RAS:GTP:inactive p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802919 RAS:GTP:moderate kinase activity p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802921 Activated MAP2Ks phosphorylate MAPKs downstream of moderate kinase activity BRAF mutants
R-HSA-6802911 High kinase activity BRAF complexes phosphorylate MAP2Ks
R-HSA-6802910 Activated MAP2Ks phosphorylate MAPKs downstream of high kinase activity BRAF mutants
R-HSA-6802926 Mutant RAS:p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802922 Activated MAP2Ks phosphorylate MAPKs downstream of oncogenic RAS
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-6798695 Neutrophil degranulation
R-HSA-9020591 Interleukin-12 signaling
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-392517 Rap1 signalling
R-HSA-8875555 MET activates RAP1 and RAC1
R-HSA-168249 Innate Immune System
R-HSA-447115 Interleukin-12 family signaling
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-9006921 Integrin signaling
R-HSA-1280218 Adaptive Immune System
R-HSA-8875878 MET promotes cell motility
R-HSA-168256 Immune System
R-HSA-449147 Signaling by Interleukins
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-162582 Signal Transduction
R-HSA-6806834 Signaling by MET
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-109582 Hemostasis
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins
R-HSA-372708 p130Cas linkage to MAPK signaling for integrins
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-5683057 MAPK family signaling cascades
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5Z2, B4DQI8, B4DW74, B4DW94, ENST00000250559.1, ENST00000250559.10, ENST00000250559.11, ENST00000250559.12, ENST00000250559.13, ENST00000250559.2, ENST00000250559.3, ENST00000250559.4, ENST00000250559.5, ENST00000250559.6, ENST00000250559.7, ENST00000250559.8, ENST00000250559.9, NM_015646, OK/SW-cl.11, P09526, P61224, Q502X3, Q5TZR4, Q6DCA1, Q6LES0, RAP1B_HUMAN, uc317fby.1, uc317fby.2
UCSC ID: ENST00000250559.14_4
RefSeq Accession: NM_001010942.3
Protein: P61224 (aka RAP1B_HUMAN or RAPB_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.