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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for AGAP3 Gene

Promoters and enhancers for AGAP3 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
GH07J151084 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 662.1 +2.0 1957 5.9 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AGAP3 GC07M151084 ENSG00000243433 SLC4A2 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10
GH07J151112 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 656.8 +29.4 29446 4.8 HDGF PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF121 GLIS2 SCRT2 RCOR1 AGAP3 FASTK PIR50531 GBX1
GH07J151134 Promoter 0.5 EPDnew 661.4 +48.6 48555 0.1 AGAP3 ASB10 GBX1 TMUB1 FASTK ENSG00000244151 SLC4A2 ENSG00000243018 SMARCD3 ENSG00000243433
GH07J151056 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 -25.4 -25389 7.6 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SLC4A2 GC07P151061 CDK5 ENSG00000244151 NUB1 ENSG00000243433 ABCB8 TMUB1 AGAP3 ATG9B
GH07J151245 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +163.5 163526 9.1 HDGF PKNOX1 FOXA2 ARNT SIN3A ZNF2 YY1 ZNF143 KLF13 ZNF263 SMARCD3 ENSG00000243018 ENSG00000244151 NUB1 ABCF2 ASB10 GBX1 ENSG00000229591 SLC4A2 TMUB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGAP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGAP3 gene promoter:
  • GR-beta
  • GR-alpha
  • GR
  • C/EBPalpha
  • p53

Genomic Locations for AGAP3 Gene

Genomic Locations for AGAP3 Gene
chr7:151,085,831-151,144,436
(GRCh38/hg38)
Size:
58,606 bases
Orientation:
Plus strand
chr7:150,782,918-150,841,523
(GRCh37/hg19)
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 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.
UniProtKB/Swiss-Prot EnzymeRegulation:
GTPase activity is stimulated by oxidative stress.

Phenotypes From GWAS Catalog for AGAP3 Gene

Gene Ontology (GO) - Molecular Function for AGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity ISO,IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
GO:0005525 GTP binding IEA --
GO:0031267 small GTPase binding IBA --
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

CRISPR Products

miRNA for AGAP3 Gene

miRTarBase miRNAs that target AGAP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGAP3

Clone Products

  • Addgene plasmids for AGAP3

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:0005634 nucleus ISO --
GO:0005737 cytoplasm IEA,ISO --
GO:0005829 cytosol IBA --
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with AGAP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGAP3 Gene

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:0000060 protein import into nucleus, translocation ISO --
GO:0007165 signal transduction IEA --
GO:0016192 vesicle-mediated transport IBA --
GO:0032012 regulation of ARF protein signal transduction IBA --
GO:0034614 cellular response to reactive oxygen species ISO --
genes like me logo Genes that share ontologies with AGAP3: view

No data available for SIGNOR curated interactions for AGAP3 Gene

Drugs & Compounds for AGAP3 Gene

No Compound Related Data Available

Transcripts for AGAP3 Gene

Unigene Clusters for AGAP3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGAP3

Clone Products

  • Addgene plasmids for AGAP3

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, 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

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 33
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGAP3 34 33
  • 92.22 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGAP3 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agap3 16 34 33
  • 89.81 (n)
cow
(Bos Taurus)
Mammalia AGAP3 34 33
  • 89.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agap3 33
  • 88.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGAP3 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGAP3 34 33
  • 78.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii AGAP3 (1 of 2) 34
  • 75 (a)
OneToMany
AGAP3 (2 of 2) 34
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cenG1A 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnt-2 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AGAP3: view image

Paralogs for AGAP3 Gene

Paralogs for AGAP3 Gene

(21) SIMAP similar genes for AGAP3 Gene using alignment to 12 proteins:

  • AGAP3_HUMAN
  • B3KNZ8_HUMAN
  • C9J975_HUMAN
  • E7ESL9_HUMAN
  • E9PAL8_HUMAN
  • H0Y873_HUMAN
  • H7C4F1_HUMAN
  • H7C4U6_HUMAN
  • H7C5G0_HUMAN
  • L8EB86_HUMAN
  • Q86ST5_HUMAN
  • Q86XV5_HUMAN
genes like me logo Genes that share paralogs with AGAP3: view

Variants for AGAP3 Gene

Sequence variations from dbSNP and Humsavar for AGAP3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs886043141 uncertain-significance, not specified 151,086,821(+) C/ coding_sequence_variant, frameshift, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000048481 -- 151,098,403(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000071566 -- 151,114,510(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000088371 -- 151,114,724(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000106804 -- 151,138,671(+) A/G/T genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for AGAP3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGAP3 Gene

Additional Disease Information for 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 probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  2. A novel GTPase, CRAG, mediates promyelocytic leukemia protein-associated nuclear body formation and degradation of expanded polyglutamine protein. (PMID: 16461359) Qin Q … Yanagi S (The Journal of cell biology 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase. (PMID: 15381706) Meurer S … Gross S (The Journal of biological chemistry 2004) 3 4 58
  5. GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins. (PMID: 12640130) Xia C … Liu M (Molecular and cellular biology 2003) 3 4 58

Products for AGAP3 Gene

Sources for AGAP3 Gene

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