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Aliases for RAP1GAP Gene

Aliases for RAP1GAP Gene

  • RAP1 GTPase Activating Protein 2 3 5
  • RAP1GAP1 3 4
  • RAP1GA1 3 4
  • RAP1, GTPase Activating Protein 1 2
  • Rap1 GTPase-Activating Protein 1 3
  • RAP1GAPII 3
  • KIAA0474 4
  • Rap1GAP 4
  • RAPGAP 3

External Ids for RAP1GAP Gene

Previous HGNC Symbols for RAP1GAP Gene

  • RAP1GA1

Previous GeneCards Identifiers for RAP1GAP Gene

  • GC01M021796
  • GC01M021922
  • GC01M020166

Summaries for RAP1GAP Gene

Entrez Gene Summary for RAP1GAP Gene

  • This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]

GeneCards Summary for RAP1GAP Gene

RAP1GAP (RAP1 GTPase Activating Protein) is a Protein Coding gene. Diseases associated with RAP1GAP include Malignant Melanoma, Somatic. Among its related pathways are RET signaling and Rap1 signalling. GO annotations related to this gene include protein homodimerization activity and GTPase activator activity. An important paralog of this gene is RAP1GAP2.

UniProtKB/Swiss-Prot for RAP1GAP Gene

  • GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.

Gene Wiki entry for RAP1GAP Gene

Additional gene information for RAP1GAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAP1GAP Gene

Genomics for RAP1GAP Gene

Regulatory Elements for RAP1GAP Gene

Enhancers for RAP1GAP 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
GH01H021637 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.2 +30.0 29977 3 HDGF PKNOX1 ATF1 TCF12 ZNF766 GATA2 ATF7 FOS NCOA1 TSHZ1 RAP1GAP LOC105376834 HS6ST1P1 CDC42-IT1 PIR35545
GH01H021630 1.6 Ensembl ENCODE dbSUPER 25.7 +36.4 36433 5 HDGF PKNOX1 ARNT ARID4B FEZF1 ZNF766 ZNF548 DEK REST ZNF592 RAP1GAP ZBTB40 HP1BP3 LOC105376834 USP48 HS6ST1P1 PIR35545
GH01H021686 1 dbSUPER 25.5 -18.2 -18170 2 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ATF7 NCOA1 USP48 RAP1GAP ZBTB40 CDC42-IT1 NBPF3 HSPG2 ENSG00000271428 HP1BP3 GC01P021743
GH01H021641 1 ENCODE dbSUPER 24.9 +27.3 27270 1 BCOR HDGF ESRRA PTBP1 ZSCAN26 ZSCAN4 ZMYM3 NFXL1 SALL2 CC2D1A HP1BP3 RAP1GAP ZBTB40 CDC42-IT1 USP48 LOC105376834 ENSG00000271428 DDOST NBPF3 PIR35545
GH01H021606 1.5 Ensembl ENCODE dbSUPER 11.7 +61.1 61104 2 HDGF PKNOX1 ARNT GLIS2 GATA2 ZNF143 KLF7 ATF7 SP3 SMARCB1 RAP1GAP LOC105376834 USP48 PIR35545
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAP1GAP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RAP1GAP gene promoter:

Genomic Location for RAP1GAP Gene

Chromosome:
1
Start:
21,596,215 bp from pter
End:
21,669,375 bp from pter
Size:
73,161 bases
Orientation:
Minus strand

Genomic View for RAP1GAP Gene

Genes around RAP1GAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAP1GAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAP1GAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1GAP Gene

Proteins for RAP1GAP Gene

  • Protein details for RAP1GAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47736-RPGP1_HUMAN
    Recommended name:
    Rap1 GTPase-activating protein 1
    Protein Accession:
    P47736
    Secondary Accessions:
    • J3QSS6
    • O75062
    • Q5T3S9
    • Q5T3T4
    • Q7Z5S8
    • Q9UQ51

    Protein attributes for RAP1GAP Gene

    Size:
    663 amino acids
    Molecular mass:
    73361 Da
    Quaternary structure:
    • Homodimer and heterodimer with RAP1B.
    SequenceCaution:
    • Sequence=AAH54490.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA32319.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAP1GAP Gene

    Alternative splice isoforms for RAP1GAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAP1GAP Gene

Post-translational modifications for RAP1GAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for RAP1GAP

No data available for DME Specific Peptides for RAP1GAP Gene

Domains & Families for RAP1GAP Gene

Gene Families for RAP1GAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAP1GAP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RAP1GAP: view

No data available for UniProtKB/Swiss-Prot for RAP1GAP Gene

Function for RAP1GAP Gene

Molecular function for RAP1GAP Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.
UniProtKB/Swiss-Prot Induction:
By 12-O-tetradecanoylphorbol-13-acetate (TPA) in promyelocytic HL-60 cells.

Phenotypes From GWAS Catalog for RAP1GAP Gene

Gene Ontology (GO) - Molecular Function for RAP1GAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 10476970
GO:0005096 GTPase activator activity IDA,IEA 15141215
GO:0005515 protein binding IPI 18309292
GO:0017016 Ras GTPase binding IPI 18309292
GO:0030695 GTPase regulator activity IEA --
genes like me logo Genes that share ontologies with RAP1GAP: view
genes like me logo Genes that share phenotypes with RAP1GAP: view

Animal Model Products

CRISPR Products

miRNA for RAP1GAP Gene

miRTarBase miRNAs that target RAP1GAP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAP1GAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAP1GAP Gene

Localization for RAP1GAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAP1GAP Gene

Golgi apparatus membrane; Peripheral membrane protein.

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 RAP1GAP gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RAP1GAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005769 early endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 10476970
genes like me logo Genes that share ontologies with RAP1GAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAP1GAP Gene

Pathways & Interactions for RAP1GAP Gene

genes like me logo Genes that share pathways with RAP1GAP: view

SIGNOR curated interactions for RAP1GAP Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RAP1GAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS,TAS 10476970
GO:0007411 axon guidance TAS --
GO:0043087 regulation of GTPase activity IDA 18309292
GO:0043547 positive regulation of GTPase activity IEA,IDA 15141215
GO:0045665 negative regulation of neuron differentiation IEA --
genes like me logo Genes that share ontologies with RAP1GAP: view

Drugs & Compounds for RAP1GAP Gene

No Compound Related Data Available

Transcripts for RAP1GAP Gene

Unigene Clusters for RAP1GAP Gene

RAP1 GTPase activating protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAP1GAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAP1GAP Gene

No ASD Table

Relevant External Links for RAP1GAP Gene

GeneLoc Exon Structure for
RAP1GAP
ECgene alternative splicing isoforms for
RAP1GAP

Expression for RAP1GAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAP1GAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAP1GAP Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.6), Brain - Putamen (basal ganglia) (x5.7), and Brain - Caudate (basal ganglia) (x4.8).

Protein differential expression in normal tissues from HIPED for RAP1GAP Gene

This gene is overexpressed in Brain (15.8), Islet of Langerhans (10.7), Frontal cortex (7.8), Adrenal (6.5), Fetal Brain (6.4), and Lung (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAP1GAP Gene



NURSA nuclear receptor signaling pathways regulating expression of RAP1GAP Gene:

RAP1GAP

SOURCE GeneReport for Unigene cluster for RAP1GAP Gene:

Hs.148178

mRNA Expression by UniProt/SwissProt for RAP1GAP Gene:

P47736-RPGP1_HUMAN
Tissue specificity: Significant expression seen in the brain, kidney and pancreas. Abundant in the cerebral cortex and expressed at much lower levels in the spinal cord. Not detected in the lymphoid tissues.

Evidence on tissue expression from TISSUES for RAP1GAP Gene

  • Nervous system(4.8)
  • Liver(4.1)
  • Thyroid gland(2.7)
  • Kidney(2.4)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with RAP1GAP: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAP1GAP Gene

Orthologs for RAP1GAP Gene

This gene was present in the common ancestor of animals.

Orthologs for RAP1GAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAP1GAP 33 34
  • 99.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1GAP 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAP1GAP 33 34
  • 92.11 (n)
cow
(Bos Taurus)
Mammalia RAP1GAP 33 34
  • 92.01 (n)
mouse
(Mus musculus)
Mammalia Rap1gap 33 16 34
  • 89.23 (n)
rat
(Rattus norvegicus)
Mammalia Rap1gap 33
  • 89.23 (n)
chicken
(Gallus gallus)
Aves RAP1GAP 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAP1GAP 34
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii RAP1GAP (3 of 3) 34
  • 88 (a)
OneToMany
RAP1GAP (1 of 3) 34
  • 72 (a)
OneToMany
rap1gap 33 34
  • 71.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rapgap1 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53A10.2 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for RAP1GAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RAP1GAP Gene

ENSEMBL:
Gene Tree for RAP1GAP (if available)
TreeFam:
Gene Tree for RAP1GAP (if available)

Paralogs for RAP1GAP Gene

(2) SIMAP similar genes for RAP1GAP Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with RAP1GAP: view

Variants for RAP1GAP Gene

Sequence variations from dbSNP and Humsavar for RAP1GAP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs147394161 A breast cancer sample 21,598,453(+) TGCTA(C/T)AGATG nc-transcript-variant, reference, missense
VAR_035547 A breast cancer sample
rs1000048086 -- 21,627,252(+) CATCA(A/G)GAGAG intron-variant
rs1000134795 -- 21,660,446(+) CTCTC(A/G)CTTCA intron-variant
rs1000176768 -- 21,639,302(+) ATAAC(-/T)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAP1GAP Gene

Variant ID Type Subtype PubMed ID
esv1002267 CNV deletion 20482838
esv2758926 CNV gain+loss 17122850
esv34155 CNV loss 18971310
esv3892747 CNV loss 25118596
nsv1075713 CNV deletion 25765185
nsv1118104 CNV deletion 24896259
nsv428432 CNV gain 18775914
nsv460751 CNV loss 19166990
nsv470704 CNV gain 18288195
nsv475097 CNV novel sequence insertion 20440878
nsv508359 CNV deletion 20534489
nsv509002 CNV insertion 20534489
nsv517096 CNV loss 19592680
nsv545737 CNV loss 21841781
nsv834391 CNV loss 17160897
nsv954902 CNV deletion 24416366
nsv998678 CNV gain 25217958

Variation tolerance for RAP1GAP Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.25; 90.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAP1GAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAP1GAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAP1GAP Gene

Disorders for RAP1GAP Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAP1GAP Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant melanoma, somatic
  • dysplastic nevus syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RAP1GAP

Genetic Association Database (GAD)
RAP1GAP
Human Genome Epidemiology (HuGE) Navigator
RAP1GAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAP1GAP
genes like me logo Genes that share disorders with RAP1GAP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAP1GAP Gene

Publications for RAP1GAP Gene

  1. Human SPA-1 gene product selectively expressed in lymphoid tissues is a specific GTPase-activating protein for Rap1 and Rap2. Segregate expression profiles from a rap1GAP gene product. (PMID: 9346962) Kurachi H … Minato N (The Journal of biological chemistry 1997) 3 4 22 60
  2. Molecular cloning of a GTPase activating protein specific for the Krev-1 protein p21rap1. (PMID: 1904317) Rubinfeld B … Polakis P (Cell 1991) 2 3 4 60
  3. Down-regulation of Rap1GAP via promoter hypermethylation promotes melanoma cell proliferation, survival, and migration. (PMID: 19147557) Zheng H … Cornelius LA (Cancer research 2009) 3 22 60
  4. Loss of Rap1GAP in papillary thyroid cancer. (PMID: 19066305) Nellore A … Brose MS (The Journal of clinical endocrinology and metabolism 2009) 3 22 60
  5. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A … Campo E (Cancer research 2008) 3 45 60

Products for RAP1GAP Gene

Sources for RAP1GAP Gene

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