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Aliases for AGAP3 Gene

Aliases for AGAP3 Gene

  • ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 3 2 3 5
  • MR1-Interacting Protein 3 4
  • CRAM-Associated GTPase 3 4
  • Centaurin-Gamma-3 3 4
  • Cnt-G3 3 4
  • CENTG3 3 4
  • AGAP-3 3 4
  • MRIP-1 3 4
  • CRAG 3 4
  • Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 3 3
  • CRMP (Collapsin Response Mediator Protein) Associated 3
  • Centaurin, Gamma 3 2

External Ids for AGAP3 Gene

Previous HGNC Symbols for AGAP3 Gene

  • CENTG3

Previous GeneCards Identifiers for AGAP3 Gene

  • GC07P150415
  • GC07P150782
  • GC07P144596

Summaries for AGAP3 Gene

Entrez Gene Summary for AGAP3 Gene

  • This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

GeneCards Summary for AGAP3 Gene

AGAP3 (ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 3) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include GTP binding and GTPase activator activity. An important paralog of this gene is AGAP1.

UniProtKB/Swiss-Prot for AGAP3 Gene

  • GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway.

Gene Wiki entry for AGAP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGAP3 Gene

Genomics for AGAP3 Gene

Regulatory Elements for AGAP3 Gene

Enhancers for AGAP3 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
GH07G150959 2.1 VISTA Ensembl ENCODE dbSUPER 10.7 -123.1 -123080 7.2 HDGF PKNOX1 CREB3L1 ARNT YBX1 ZNF766 ZNF143 KLF13 TAF15 REST AOC1 ATG9B ENSG00000243433 ABCB8 TMUB1 AGAP3 KCNH2 LOC105375567
GH07G151007 2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -74.7 -74705 7.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ZFP64 ARID4B DMAP1 SLC30A9 NOS3 KCNH2 ASIC3 SLC4A2 CDK5 ENSG00000244151 FASTK AGAP3 TMUB1 GBX1
GH07G151038 1.6 Ensembl ENCODE dbSUPER 11.8 -46.5 -46520 2.6 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF766 FOS ZNF263 SP3 JUNB ENSG00000244151 TMUB1 FASTK AGAP3 ABCB8 ENSG00000243433 ASIC3
GH07G150968 1.7 VISTA Ensembl ENCODE dbSUPER 10.7 -115.0 -115005 4.7 HDAC1 HDGF PKNOX1 BMI1 ZNF766 CBX5 EGR1 ETV6 RELB IKZF2 AOC1 ATG9B ENSG00000243433 ABCB8 SLC4A2 TMUB1 AGAP3 ENSG00000244151 FASTK KCNH2
GH07G151017 1.6 Ensembl ENCODE dbSUPER 11.3 -67.5 -67457 2.0 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B DMAP1 ZNF2 ZBTB7B YY1 ABCB8 NOS3 KCNH2 ASIC3 SLC4A2 CDK5 TMUB1 AGAP3 ENSG00000244151 FASTK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGAP3 on UCSC Golden Path with GeneCards custom track

Promoters for AGAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219787 1169 2001 HDGF PKNOX1 MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for AGAP3 Gene

Chromosome:
7
Start:
151,085,831 bp from pter
End:
151,144,436 bp from pter
Size:
58,606 bases
Orientation:
Plus strand

Genomic View for AGAP3 Gene

Genes around AGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGAP3 Gene

Proteins for AGAP3 Gene

  • Protein details for AGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P47-AGAP3_HUMAN
    Recommended name:
    Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3
    Protein Accession:
    Q96P47
    Secondary Accessions:
    • B3KNZ8
    • E9PAL8
    • Q59EN0
    • Q96RK3

    Protein attributes for AGAP3 Gene

    Size:
    875 amino acids
    Molecular mass:
    95044 Da
    Quaternary structure:
    • Interacts with PML. Interacts with expanded polyglutamine proteins.

    Three dimensional structures from OCA and Proteopedia for AGAP3 Gene

    Alternative splice isoforms for AGAP3 Gene

neXtProt entry for AGAP3 Gene

Post-translational modifications for AGAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AGAP3 Gene

Domains & Families for AGAP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96P47

UniProtKB/Swiss-Prot:

AGAP3_HUMAN :
  • Belongs to the centaurin gamma-like family.
Family:
  • Belongs to the centaurin gamma-like family.
genes like me logo Genes that share domains with AGAP3: view

Function for AGAP3 Gene

Molecular function for AGAP3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
GTPase activity is stimulated by oxidative stress.
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway.

Gene Ontology (GO) - Molecular Function for AGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AGAP3: view
genes like me logo Genes that share phenotypes with AGAP3: view

Animal Model Products

miRNA for AGAP3 Gene

miRTarBase miRNAs that target AGAP3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AGAP3 Gene

Localization for AGAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGAP3 Gene

Cytoplasm. Note=In cells upon oxidative stress or in brains of Machado-Joseph disease patients, translocates to PML nuclear bodies.

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 AGAP3 gene
Compartment Confidence
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for AGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AGAP3: view

Pathways & Interactions for AGAP3 Gene

SuperPathways for AGAP3 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with AGAP3: view

Pathways by source for AGAP3 Gene

1 KEGG pathway for AGAP3 Gene

Gene Ontology (GO) - Biological Process for AGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with AGAP3: view

No data available for SIGNOR curated interactions for AGAP3 Gene

Transcripts for AGAP3 Gene

Unigene Clusters for AGAP3 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGAP3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5:
SP6: - - - - - - -
SP7: - - - -
SP8:
SP9: -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - - - - -
SP2: - - - - - - - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -
SP14:
SP15:
SP16:

Relevant External Links for AGAP3 Gene

GeneLoc Exon Structure for
AGAP3
ECgene alternative splicing isoforms for
AGAP3

Expression for AGAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGAP3 Gene

This gene is overexpressed in Adrenal (21.6), Fetal Brain (17.5), and Frontal cortex (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AGAP3 Gene



Protein tissue co-expression partners for AGAP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGAP3 Gene:

AGAP3

SOURCE GeneReport for Unigene cluster for AGAP3 Gene:

Hs.647075

mRNA Expression by UniProt/SwissProt for AGAP3 Gene:

Q96P47-AGAP3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for AGAP3 Gene

  • Nervous system(4.9)
  • Heart(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with AGAP3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGAP3 Gene

Orthologs for AGAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGAP3 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia AGAP3 34 35
  • 92.22 (n)
oppossum
(Monodelphis domestica)
Mammalia AGAP3 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agap3 34 16 35
  • 89.81 (n)
cow
(Bos Taurus)
Mammalia AGAP3 34 35
  • 89.4 (n)
rat
(Rattus norvegicus)
Mammalia Agap3 34
  • 88.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGAP3 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGAP3 34 35
  • 78.38 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii AGAP3 (1 of 2) 35
  • 75 (a)
OneToMany
AGAP3 (2 of 2) 35
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cenG1A 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnt-2 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
Species where no ortholog for AGAP3 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)
  • 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 AGAP3 Gene

ENSEMBL:
Gene Tree for AGAP3 (if available)
TreeFam:
Gene Tree for AGAP3 (if available)

Paralogs for AGAP3 Gene

Variants for AGAP3 Gene

Sequence variations from dbSNP and Humsavar for AGAP3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs886043141 Uncertain significance 151,086,821(+) TGCCG(-/C)GCAGC intron-variant, upstream-variant-2KB, reference, frameshift-variant
rs1000048481 -- 151,098,403(+) ACACA(A/T)GGGAC intron-variant
rs1000071566 -- 151,114,510(+) TGCCC(C/T)AGCAG intron-variant, upstream-variant-2KB
rs1000088371 -- 151,114,724(+) CCAGC(C/T)CCGTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000106804 -- 151,138,671(+) TCCCC(A/G)TCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGAP3 Gene

Variant ID Type Subtype PubMed ID
dgv11724n54 CNV loss 21841781
dgv11725n54 CNV gain 21841781
dgv11726n54 CNV gain+loss 21841781
dgv11727n54 CNV gain 21841781
dgv3695n106 OTHER inversion 24896259
dgv3697n106 CNV deletion 24896259
dgv436n21 CNV loss 19592680
dgv6756n100 CNV gain 25217958
esv22632 CNV loss 19812545
nsv1067934 OTHER inversion 25765185
nsv1075073 CNV deletion 25765185
nsv1076016 CNV deletion 25765185
nsv1137597 CNV deletion 24896259
nsv1151906 OTHER inversion 26484159
nsv465215 CNV loss 19166990
nsv527369 CNV loss 19592680
nsv6004 CNV insertion 18451855
nsv609015 CNV gain 21841781
nsv609017 CNV loss 21841781
nsv609025 CNV gain 21841781
nsv609026 CNV gain+loss 21841781
nsv609033 CNV gain+loss 21841781
nsv609034 CNV loss 21841781
nsv831188 CNV loss 17160897
nsv951648 CNV deletion 24416366

Variation tolerance for AGAP3 Gene

Residual Variation Intolerance Score: 6.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGAP3 Gene

Disorders for AGAP3 Gene

Relevant External Links for AGAP3

Genetic Association Database (GAD)
AGAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGAP3

No disorders were found for AGAP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AGAP3 Gene

Publications for AGAP3 Gene

  1. A novel GTPase, CRAG, mediates promyelocytic leukemia protein- associated nuclear body formation and degradation of expanded polyglutamine protein. (PMID: 16461359) Qin Q. … Yanagi S. (J. Cell Biol. 2006) 3 4 64
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase. (PMID: 15381706) Meurer S. … Gross S. (J. Biol. Chem. 2004) 3 4 64
  5. GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins. (PMID: 12640130) Xia C. … Liu M. (Mol. Cell. Biol. 2003) 3 4 64

Products for AGAP3 Gene

Sources for AGAP3 Gene

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