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Aliases for RAP1GAP Gene

Aliases for RAP1GAP Gene

  • RAP1 GTPase Activating Protein 2 3
  • RAP1GA1 3 4 6
  • RAP1GAP1 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 Symbols for RAP1GAP Gene

  • RAP1GA1

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 Ras signaling pathway and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein homodimerization activity and GTPase activator activity. An important paralog of this gene is SIPA1L2.

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

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

Genomics for RAP1GAP Gene

Genomic Location for RAP1GAP Gene

Start:
21,596,215 bp from pter
End:
21,669,517 bp from pter
Size:
73,303 bases
Orientation:
Minus strand

Genomic View for RAP1GAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAP1GAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1GAP Gene

Regulatory Elements for RAP1GAP Gene

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

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

Proteomics data for RAP1GAP Gene at MOPED

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 for RAP1GAP Gene

Protein Domains for RAP1GAP Gene

UniProtKB/Swiss-Prot:

RPGP1_HUMAN
Domain:
  • Contains 1 GoLoco domain.:
    • P47736
  • Contains 1 Rap-GAP domain.:
    • P47736
genes like me logo Genes that share domains with RAP1GAP: view

No data available for Gene Families 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.

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 15141215
GO:0005515 protein binding IPI 18309292
GO:0017016 Ras GTPase binding IPI 18309292
GO:0030695 GTPase regulator activity --
genes like me logo Genes that share ontologies with RAP1GAP: view
genes like me logo Genes that share phenotypes with RAP1GAP: view

miRNA for RAP1GAP Gene

miRTarBase miRNAs that target RAP1GAP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for RAP1GAP Gene COMPARTMENTS Subcellular localization image for RAP1GAP gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for RAP1GAP Gene

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

Pathways for RAP1GAP Gene

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

Pathways by source for RAP1GAP Gene

2 Reactome pathways for RAP1GAP Gene
1 KEGG pathway for RAP1GAP Gene

Gene Ontology (GO) - Biological Process for RAP1GAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0007165 signal transduction NAS 10476970
GO:0008152 metabolic process NAS 10476970
GO:0043087 regulation of GTPase activity IDA 18309292
GO:0043547 positive regulation of GTPase activity IDA 15141215
genes like me logo Genes that share ontologies with RAP1GAP: view

Transcripts for RAP1GAP Gene

Unigene Clusters for RAP1GAP Gene

RAP1 GTPase activating protein:
Representative Sequences:

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 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) (6.6), Brain - Putamen (basal ganglia) (5.7), and Brain - Caudate (basal ganglia) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAP1GAP Gene

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.
genes like me logo Genes that share expressions with RAP1GAP: view

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 36
  • 99.31 (n)
  • 99.72 (a)
RAP1GAP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAP1GAP 36
  • 92.01 (n)
  • 98.04 (a)
RAP1GAP 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAP1GAP 36
  • 92.11 (n)
  • 99.21 (a)
RAP1GAP 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rap1gap 36
  • 89.23 (n)
  • 94.91 (a)
Rap1gap 16
Rap1gap 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1GAP 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rap1gap 36
  • 89.23 (n)
  • 94.09 (a)
chicken
(Gallus gallus)
Aves RAP1GAP 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAP1GAP 37
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rap1gap 36
  • 71.44 (n)
  • 77.4 (a)
rap1gap 37
  • 74 (a)
OneToMany
RAP1GAP (1 of 3) 37
  • 72 (a)
OneToMany
RAP1GAP (3 of 3) 37
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rapgap1 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53A10.2 37
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToMany
Species with no ortholog for RAP1GAP:
  • 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

Paralogs for RAP1GAP Gene

Selected 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 MAF
rs710946 -- 21,621,358(-) ACCCC(G/T)GCAGT intron-variant
rs710947 -- 21,626,029(+) ATGAA(A/G)ATAGC intron-variant
rs710948 -- 21,666,107(+) GGAGC(A/G)TGGTG intron-variant
rs729139 -- 21,625,154(+) AGGTG(C/G)TGGCC intron-variant
rs729648 -- 21,621,227(-) GGCTG(C/T)GTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv870456 CNV Gain 21882294
esv34155 CNV Loss 18971310
dgv42e1 CNV Complex 17122850
nsv428432 CNV Gain 18775914
nsv834391 CNV Loss 17160897
nsv517096 CNV Loss 19592680
dgv189n71 CNV Loss 21882294
nsv871612 CNV Loss 21882294
nsv871706 CNV Loss 21882294
nsv508359 CNV Loss 20534489
nsv509002 CNV Insertion 20534489
dgv191n71 CNV Loss 21882294
nsv470704 CNV Gain 18288195
nsv871036 CNV Loss 21882294
dgv192n71 CNV Loss 21882294
nsv870959 CNV Loss 21882294
esv1002267 CNV Deletion 20482838
nsv871675 CNV Loss 21882294
nsv460751 CNV Loss 19166990
nsv870764 CNV Loss 21882294

Relevant External Links for RAP1GAP Gene

HapMap Linkage Disequilibrium report
RAP1GAP

Disorders for RAP1GAP Gene

(1) University of Copenhagen DISEASES for RAP1GAP Gene

(1) Novoseek inferred disease relationships for RAP1GAP Gene

Disease -log(P) Hits PubMed IDs
tumors 0.0112 4

Relevant External Links for RAP1GAP

Genetic Association Database (GAD)
RAP1GAP
Human Genome Epidemiology (HuGE) Navigator
RAP1GAP
genes like me logo Genes that share disorders with RAP1GAP: view

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

Publications for RAP1GAP Gene

  1. Human SPA-1 product selectively expressed in lymphoid tissues is a specific GTPase-activating protein for Rap1 and Rap2. (PMID: 9346962) Kurachi H. … Minato N. (J. Biol. Chem. 1997) 3 4 23
  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
  3. The Rap-RapGAP complex: GTP hydrolysis without catalytic glutamine and arginine residues. (PMID: 18309292) Scrima A. … Wittinghofer A. (EMBO J. 2008) 3 4
  4. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PMID: 18940312) Yuan X. … Mooser V. (Am. J. Hum. Genet. 2008) 3 49
  5. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A. … Campo E. (Cancer Res. 2008) 3 49

Products for RAP1GAP Gene

Sources for RAP1GAP Gene

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