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Aliases for RAP1GAP Gene

Aliases for RAP1GAP Gene

  • RAP1 GTPase Activating Protein 2 3 5
  • RAP1GA1 3 4
  • RAP1, GTPase Activating Protein 1 2
  • Rap1 GTPase-Activating Protein 1 3
  • RAP1GAPII 3
  • RAP1GAP1 3
  • KIAA0474 4
  • Rap1GAP1 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. Among its related pathways are RET signaling and Developmental Biology. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for RAP1GAP Gene

Promoters and enhancers for RAP1GAP 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
GH01J021622 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 654.4 +45.7 45655 3.4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2 RXRA RAP1GAP USP48 PIR35545
GH01J021650 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 661.1 +17.9 17931 1.8 HDGF ARNT ZNF2 GLIS2 YY2 REST GMEB1 ZNF184 SMARCA4 KDM1A RAP1GAP ALPL PIR35545
GH01J021668 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.7 0.0 -28 2.9 HDGF MLX ARID4B DMAP1 YY1 SLC30A9 ZNF766 ZNF213 SP3 SP5 RAP1GAP HP1BP3 ZBTB40 USP48 NBPF3 GC01P021743
GH01J021637 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 26.2 +30.0 29976 3.2 HDGF PKNOX1 ARNT ZNF766 FOS REST ZNF592 MEF2D SMARCA4 GLIS1 RAP1GAP LOC105376834 HS6ST1P1 CDC42-IT1 PIR35545
GH01J021630 Enhancer 1.4 Ensembl ENCODE dbSUPER 25.7 +36.4 36432 5.6 HDGF PKNOX1 SMAD1 ARNT ARID4B FEZF1 ZNF766 E2F8 ZNF143 ZNF548 ZBTB40 RAP1GAP HP1BP3 USP48 CDC42-IT1 LOC105376834 ENSG00000271428 DDOST HS6ST1P1 PIR35545
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAP1GAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAP1GAP gene promoter:
  • AP-1
  • c-Fos
  • c-Jun

Genomic Locations for RAP1GAP Gene

Genomic Locations for RAP1GAP Gene
chr1:21,596,215-21,669,375
(GRCh38/hg38)
Size:
73,161 bases
Orientation:
Minus strand
chr1:21,922,708-21,995,856
(GRCh37/hg19)
Size:
73,149 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

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 IEA,IDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAP1GAP

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA,IEA 10476970
genes like me logo Genes that share ontologies with RAP1GAP: view

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

mRNA/cDNA for RAP1GAP Gene

Unigene Clusters for RAP1GAP Gene

RAP1 GTPase activating protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAP1GAP

Clone Products

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, 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

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 34 33
  • 99.31 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1GAP 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAP1GAP 34 33
  • 92.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAP1GAP 34 33
  • 92.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rap1gap 16 34 33
  • 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 34 33
  • 71.44 (n)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for RAP1GAP: view image

Paralogs for RAP1GAP Gene

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

  • RPGP1_HUMAN
  • F2Z357_HUMAN
  • G3V1A7_HUMAN
  • J3KPC5_HUMAN
  • Q49AP2_HUMAN
  • Q5T3S6_HUMAN
  • Q5T3T0_HUMAN
  • Q5T3T1_HUMAN
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 Variation AA Info Type
rs147394161 A breast cancer sample 21,598,453(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_035547 A breast cancer sample p.Cys257Arg
rs1000048086 -- 21,627,252(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000134795 -- 21,660,446(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000176768 -- 21,639,302(-) TTT/TT genic_upstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for RAP1GAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RAP1GAP Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Loss of Rap1GAP in papillary thyroid cancer. (PMID: 19066305) Nellore A … Brose MS (The Journal of clinical endocrinology and metabolism 2009) 3 22 58
  5. The Rap-RapGAP complex: GTP hydrolysis without catalytic glutamine and arginine residues. (PMID: 18309292) Scrima A … Wittinghofer A (The EMBO journal 2008) 3 4 58

Products for RAP1GAP Gene

Sources for RAP1GAP Gene

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