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Aliases for RAP1A Gene

Aliases for RAP1A Gene

  • RAP1A, Member Of RAS Oncogene Family 2 3 5
  • GTP-Binding Protein Smg P21A 3 4
  • Ras-Related Protein Krev-1 3 4
  • C21KG 3 4
  • G-22K 3 4
  • KREV1 3 4
  • Ras-Related Protein Rap-1A 3
  • KREV-1 3
  • SMGP21 3
  • RAP1 3

External Ids for RAP1A Gene

Previous GeneCards Identifiers for RAP1A Gene

  • GC01P112501
  • GC01P110956
  • GC01P111186
  • GC01P111383
  • GC01P111796
  • GC01P111886
  • GC01P111963
  • GC01P112084
  • GC01P110105

Summaries for RAP1A Gene

Entrez Gene Summary for RAP1A Gene

  • This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for RAP1A Gene

RAP1A (RAP1A, Member Of RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAP1A include Kabuki Syndrome 1 and Tuberous Sclerosis. Among its related pathways are RET signaling and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and protein complex binding. An important paralog of this gene is RAP1B.

UniProtKB/Swiss-Prot for RAP1A Gene

  • Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions.

Gene Wiki entry for RAP1A Gene

Additional gene information for RAP1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAP1A Gene

Genomics for RAP1A Gene

GeneHancer (GH) Regulatory Elements for RAP1A Gene

Promoters and enhancers for RAP1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I111618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 571 +78.4 78393 4.6 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 POLR2B ZNF766 ZNF213 RAP1A KRT18P57 RNU6-151P ATP5PB WDR77 FAM212B UBE2FP3 LINC01160 PIFO C1orf162
GH01I111542 Enhancer 0.6 Ensembl ENCODE 550.8 +0.1 118 0.3 ZNF316 ZNF384 RAP1A GC01P111550 TMIGD3
GH01I111691 Promoter 0.5 EPDnew 550.1 +149.1 149096 0.1 RAP1A RNU6-151P KRT18P57 DDX20 FAM212B GC01P111714 GC01P111550
GH01I111541 Enhancer 0.4 ENCODE 550.8 -0.2 -244 0.2 ZNF384 PRDM1 RAP1A TMIGD3 ADORA3
GH01I111502 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.2 -35.4 -35350 8.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ADORA3 C1orf162 RAP1A DDX20 CEPT1 FAM212B DRAM2 TMIGD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAP1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAP1A gene promoter:

Genomic Locations for RAP1A Gene

Genomic Locations for RAP1A Gene
chr1:111,542,218-111,716,695
(GRCh38/hg38)
Size:
174,478 bases
Orientation:
Plus strand
chr1:112,084,840-112,259,313
(GRCh37/hg19)

Genomic View for RAP1A Gene

Genes around RAP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1A Gene

Proteins for RAP1A Gene

  • Protein details for RAP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62834-RAP1A_HUMAN
    Recommended name:
    Ras-related protein Rap-1A
    Protein Accession:
    P62834
    Secondary Accessions:
    • P10113

    Protein attributes for RAP1A Gene

    Size:
    184 amino acids
    Molecular mass:
    20987 Da
    Quaternary structure:
    • Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (active GTP-bound form preferentially) with KRIT1 (via C-terminus FERM domain); the interaction does not induce the opening conformation of KRIT1. In its GTP-bound form interacts with PLCE1 and RADIL. Interacts with SGSM1, SGSM2 and SGSM3. Interacts (via GTP-bound active form) with RAPGEF2 (via Ras-associating domain).
    SequenceCaution:
    • Sequence=CAB55685.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAP1A Gene

neXtProt entry for RAP1A Gene

Post-translational modifications for RAP1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for RAP1A Gene

Domains & Families for RAP1A Gene

Gene Families for RAP1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAP1A Gene

Graphical View of Domain Structure for InterPro Entry

P62834

UniProtKB/Swiss-Prot:

RAP1A_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 RAP1A: view

Function for RAP1A Gene

Molecular function for RAP1A Gene

GENATLAS Biochemistry:
RAP1A,Ras oncogene superfamily member (Krev1),morphologic reversion of ras-transformed cells
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by guanine nucleotide-exchange factors (GEF) EPAC and EPAC2 in a cAMP-dependent manner, and GFR.
UniProtKB/Swiss-Prot Function:
Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions.

Phenotypes From GWAS Catalog for RAP1A Gene

Gene Ontology (GO) - Molecular Function for RAP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA,TAS --
GO:0005515 protein binding IPI 7791872
GO:0005525 GTP binding IEA --
GO:0008565 protein transporter activity IDA 17916086
GO:0017016 Ras GTPase binding IEA --
genes like me logo Genes that share ontologies with RAP1A: view
genes like me logo Genes that share phenotypes with RAP1A: view

Human Phenotype Ontology for RAP1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAP1A Gene

MGI Knock Outs for RAP1A:

Animal Model Products

Clone Products

  • Addgene plasmids for RAP1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAP1A Gene

Localization for RAP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAP1A Gene

Cell membrane; Lipid-anchor. Cytoplasm. Cytoplasm, perinuclear region. Cell junction. Early endosome. Note=Recruited from early endosome to late endosome compartment after nerve growth factor (NGF) stimulation. Localized with RAPGEF2 at cell-cell junctions (By similarity). Colocalized with RAPGEF2 in the perinuclear region. {ECO:0000250}.

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 RAP1A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
endosome 4
cytoskeleton 2
nucleus 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 11359771
GO:0005768 endosome IEA --
GO:0005769 early endosome ISS --
GO:0005770 late endosome ISS,IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAP1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAP1A Gene

Pathways & Interactions for RAP1A Gene

SuperPathways for RAP1A Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
3 Focal Adhesion
4 Development HGF signaling pathway
5 Activation of cAMP-Dependent PKA
genes like me logo Genes that share pathways with RAP1A: view

Gene Ontology (GO) - Biological Process for RAP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0007165 signal transduction TAS 2642744
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007399 nervous system development IEA --
GO:0009743 response to carbohydrate IEA --
genes like me logo Genes that share ontologies with RAP1A: view

No data available for SIGNOR curated interactions for RAP1A Gene

Drugs & Compounds for RAP1A Gene

(28) Drugs for RAP1A Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Salirasib Investigational Pharma Inhibitor of active Ras protein 0
Kobe0065 Pharma Ras inhibitor 0
kobe2602 Pharma Ras inhibitor 0

(20) Additional Compounds for RAP1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for RAP1A Gene

Compound Action Cas Number
Kobe0065 Ras inhibitor 436133-68-5
kobe2602 Ras inhibitor 454453-49-7
Salirasib Inhibitor of active Ras protein 162520-00-5
genes like me logo Genes that share compounds with RAP1A: view

Drug Products

Transcripts for RAP1A Gene

Unigene Clusters for RAP1A Gene

RAP1A, member of RAS oncogene family:
Representative Sequences:

Clone Products

  • Addgene plasmids for RAP1A

Alternative Splicing Database (ASD) splice patterns (SP) for RAP1A Gene

No ASD Table

Relevant External Links for RAP1A Gene

GeneLoc Exon Structure for
RAP1A
ECgene alternative splicing isoforms for
RAP1A

Expression for RAP1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAP1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAP1A Gene

This gene is overexpressed in Adipocyte (26.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAP1A Gene



Protein tissue co-expression partners for RAP1A Gene

NURSA nuclear receptor signaling pathways regulating expression of RAP1A Gene:

RAP1A

SOURCE GeneReport for Unigene cluster for RAP1A Gene:

Hs.190334

Evidence on tissue expression from TISSUES for RAP1A Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Skin(4.3)
  • Heart(2.6)
  • Muscle(2.5)
  • Kidney(2.4)
  • Lung(2.4)
  • Intestine(2.3)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with RAP1A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAP1A Gene

Orthologs for RAP1A Gene

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

Orthologs for RAP1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAP1A 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RAP1A 33 34
  • 96.74 (n)
cow
(Bos Taurus)
Mammalia RAP1A 33 34
  • 95.83 (n)
rat
(Rattus norvegicus)
Mammalia Rap1a 33
  • 95.65 (n)
mouse
(Mus musculus)
Mammalia Rap1a 33 16 34
  • 94.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1A 34
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAP1A 33 34
  • 91.49 (n)
lizard
(Anolis carolinensis)
Reptilia RAP1A 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rap1a 33
  • 84.06 (n)
Str.17139 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23802 33
zebrafish
(Danio rerio)
Actinopterygii rap1ab 34
  • 95 (a)
ManyToMany
rap1aa 33 34
  • 81.88 (n)
wufc66g06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9072 33
fruit fly
(Drosophila melanogaster)
Insecta R 35 33 34
  • 72.13 (n)
Rap2l 35
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001874 33
  • 71.77 (n)
worm
(Caenorhabditis elegans)
Secernentea rrp-1 35
  • 89 (a)
rap-1 34
  • 82 (a)
OneToMany
C25D7.7 35
  • 53 (a)
C08F8.7 35
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR464W 33
  • 59.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8837 34
  • 83 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02167 33
  • 57.75 (n)
Species where no ortholog for RAP1A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 RAP1A Gene

ENSEMBL:
Gene Tree for RAP1A (if available)
TreeFam:
Gene Tree for RAP1A (if available)

Paralogs for RAP1A Gene

genes like me logo Genes that share paralogs with RAP1A: view

Variants for RAP1A Gene

Sequence variations from dbSNP and Humsavar for RAP1A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000022401 -- 111,612,190(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000038056 -- 111,544,076(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000080783 -- 111,680,100(+) C/T intron_variant
rs1000088595 -- 111,543,861(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000137338 -- 111,584,534(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAP1A Gene

Variant ID Type Subtype PubMed ID
esv2677467 CNV deletion 23128226
esv3305407 CNV mobile element insertion 20981092
esv3394544 CNV insertion 20981092
esv3421509 CNV insertion 20981092
esv3578108 CNV loss 25503493
esv3587194 CNV gain 21293372
esv3587195 CNV loss 21293372
nsv946141 CNV duplication 23825009
nsv947444 CNV duplication 23825009

Variation tolerance for RAP1A Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAP1A Gene

Human Gene Mutation Database (HGMD)
RAP1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAP1A Gene

Disorders for RAP1A Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAP1A Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kms
tuberous sclerosis
  • tuberous sclerosis 1
babesiosis
  • babesiasis
leukocyte adhesion deficiency, type iii
  • lad3
central nervous system hemangioma
  • hemangioma of cns
- elite association - COSMIC cancer census association via MalaCards
Search RAP1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAP1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAP1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAP1A Gene

Publications for RAP1A Gene

  1. Mutation analysis of RAP1 gene in papillary thyroid carcinomas. (PMID: 18948674) Matsuse M … Yamashita S (Endocrine journal 2009) 3 22 44 58
  2. RA-GEF-1, a guanine nucleotide exchange factor for Rap1, is activated by translocation induced by association with Rap1*GTP and enhances Rap1-dependent B-Raf activation. (PMID: 11359771) Liao Y … Kataoka T (The Journal of biological chemistry 2001) 3 4 22 58
  3. RA-GEF, a novel Rap1A guanine nucleotide exchange factor containing a Ras/Rap1A-associating domain, is conserved between nematode and humans. (PMID: 10608844) Liao Y … Kataoka T (The Journal of biological chemistry 1999) 3 4 22 58
  4. The 2.2 A crystal structure of the Ras-binding domain of the serine/threonine kinase c-Raf1 in complex with Rap1A and a GTP analogue. (PMID: 7791872) Nassar N … Wittinghofer A (Nature 1995) 3 4 22 58
  5. The COOH-terminal domain of the Rap1A (Krev-1) protein is isoprenylated and supports transformation by an H-Ras:Rap1A chimeric protein. (PMID: 1899909) Buss JE … Der CJ (Molecular and cellular biology 1991) 3 4 22 58

Products for RAP1A Gene

  • Addgene plasmids for RAP1A

Sources for RAP1A Gene