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Aliases for AGAP1 Gene

Aliases for AGAP1 Gene

  • ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 1 2 3 5
  • GTP-Binding And GTPase-Activating Protein 1 3 4
  • Centaurin, Gamma 2 2 3
  • Cnt-G2 3 4
  • CENTG2 3 4
  • AGAP-1 3 4
  • GGAP1 3 4
  • Arf GAP With GTP-Binding Protein-Like, ANK Repeat And PH Domains 1 3
  • Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 1 3
  • Centaurin-Gamma-2 4
  • KIAA1099 4

External Ids for AGAP1 Gene

Previous HGNC Symbols for AGAP1 Gene

  • CENTG2

Previous GeneCards Identifiers for AGAP1 Gene

  • GC02P236068
  • GC02P236402
  • GC02P228413

Summaries for AGAP1 Gene

Entrez Gene Summary for AGAP1 Gene

  • This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for AGAP1 Gene

AGAP1 (ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 1) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include GTP binding and phospholipid binding. An important paralog of this gene is AGAP3.

UniProtKB/Swiss-Prot for AGAP1 Gene

  • GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.

Gene Wiki entry for AGAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGAP1 Gene

Genomics for AGAP1 Gene

Regulatory Elements for AGAP1 Gene

Enhancers for AGAP1 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
GH02F236086 1 ENCODE 11.3 +593.1 593132 1.1 PKNOX1 POU5F1 ETS1 RNU7-127P AGAP1 GC02P236082 PIR53345
GH02F235541 0.9 Ensembl ENCODE 6.2 +49.5 49462 3.5 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 FOS AGAP1 AGAP1-IT1 PIR48120
GH02F235747 0.8 Ensembl ENCODE 5.7 +254.5 254485 2.9 GTF2F1 TBP KLF1 MXI1 ZNF680 BHLHE40 CEBPB KLF17 MAX EP300 LOC105373942 AGAP1 PIR31689 PIR48898
GH02F235723 0.8 Ensembl ENCODE 5.5 +231.5 231527 3.5 MAZ CEBPA CEBPB RCOR1 EP300 ZNF644 CHD2 AGAP1 GC02P235746 PIR61578 LOC105373943
GH02F235492 1.2 FANTOM5 ENCODE 3.4 +0.1 107 4.3 CREB3L1 ZNF76 ARID4B SIN3A ZNF48 ETS1 ZNF143 CREM THAP11 ZNF263 AGAP1-IT1 AGAP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AGAP1 on UCSC Golden Path with GeneCards custom track

Promoters for AGAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000609917 311 2401 CREB3L1 ZNF76 ARID4B SIN3A ZNF48 ZSCAN9 RAD21 ETS1 ZNF143 CREM

Genomic Location for AGAP1 Gene

235,494,089 bp from pter
236,131,800 bp from pter
637,712 bases
Plus strand

Genomic View for AGAP1 Gene

Genes around AGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGAP1 Gene

Proteins for AGAP1 Gene

  • Protein details for AGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RTX7
    • Q541S5
    • Q6P9D7
    • Q9NV93

    Protein attributes for AGAP1 Gene

    857 amino acids
    Molecular mass:
    94470 Da
    Quaternary structure:
    • Homodimer. Interacts with several subunits of the AP-3 protein complex: AP3M1, AP3S1 and AP3S2. Interacts with GUCY1A3 and GUCY1B3.
    • Sequence=AAH60814.1; Type=Miscellaneous discrepancy; Note=A 4-nucleotides insertion of unknown origin disrupts the reading frame.; Evidence={ECO:0000305}; Sequence=BAA83051.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA91862.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AGAP1 Gene


neXtProt entry for AGAP1 Gene

Post-translational modifications for AGAP1 Gene

No data available for DME Specific Peptides for AGAP1 Gene

Domains & Families for AGAP1 Gene

Suggested Antigen Peptide Sequences for AGAP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • The PH domain mediates AP-3 binding.
  • Belongs to the centaurin gamma-like family.
  • Contains 2 ANK repeats.
  • The PH domain mediates AP-3 binding.
  • Contains 1 Arf-GAP domain.
  • Contains 1 PH domain.
  • Belongs to the centaurin gamma-like family.
  • Contains 2 ANK repeats.
genes like me logo Genes that share domains with AGAP1: view

Function for AGAP1 Gene

Molecular function for AGAP1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
GAP activity stimulated by phosphatidylinositol 3,4,5-trisphosphate (PIP3) and, to a lesser extent, by phosphatidylinositol 4,5-bisphosphate (PIP2). Phosphatidic acid potentiates PIP2 stimulation.
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.

Gene Ontology (GO) - Molecular Function for AGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005525 GTP binding IEA --
GO:0005543 phospholipid binding IDA 18954304
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AGAP1: view

Phenotypes for AGAP1 Gene

MGI mutant phenotypes for AGAP1:
inferred from 1 alleles
GenomeRNAi human phenotypes for AGAP1:
genes like me logo Genes that share phenotypes with AGAP1: view

Animal Models for AGAP1 Gene

MGI Knock Outs for AGAP1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGAP1 Gene

Localization for AGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGAP1 Gene

Cytoplasm. Note=Associates with the endocytic compartment.

Subcellular locations from

Jensen Localization Image for AGAP1 Gene COMPARTMENTS Subcellular localization image for AGAP1 gene
Compartment Confidence
cytosol 3
nucleus 3
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with AGAP1: view

Pathways & Interactions for AGAP1 Gene

SuperPathways for AGAP1 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with AGAP1: view

Pathways by source for AGAP1 Gene

1 KEGG pathway for AGAP1 Gene

Gene Ontology (GO) - Biological Process for AGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with AGAP1: view

No data available for SIGNOR curated interactions for AGAP1 Gene

Drugs & Compounds for AGAP1 Gene

(1) Drugs for AGAP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(12) Additional Compounds for AGAP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with AGAP1: view

Transcripts for AGAP1 Gene

Unigene Clusters for AGAP1 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AGAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: - -
SP2: - -

Relevant External Links for AGAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AGAP1 Gene

mRNA expression in normal human tissues for AGAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGAP1 Gene

This gene is overexpressed in Urine (33.0), Fetal Brain (13.0), and Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AGAP1 Gene

Protein tissue co-expression partners for AGAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGAP1 Gene:


SOURCE GeneReport for Unigene cluster for AGAP1 Gene:


mRNA Expression by UniProt/SwissProt for AGAP1 Gene:

Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with AGAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for AGAP1 Gene

Orthologs for AGAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGAP1 35
  • 99 (a)
(Bos Taurus)
Mammalia AGAP1 35
  • 96 (a)
(Canis familiaris)
Mammalia AGAP1 34 35
  • 92.14 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
(Mus musculus)
Mammalia Agap1 34 16 35
  • 89.73 (n)
(Rattus norvegicus)
Mammalia Agap1 34
  • 87.89 (n)
(Gallus gallus)
Aves -- 35
  • 96 (a)
AGAP1 34
  • 84.99 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
-- 35
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia agap1 34
  • 77.76 (n)
(Danio rerio)
Actinopterygii agap1 34 35
  • 78.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009160 34
  • 58.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta cenG1A 34 35
  • 55.98 (n)
(Caenorhabditis elegans)
Secernentea cnt-2 34 35
  • 51.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13853 34
Species where no ortholog for AGAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for AGAP1 Gene

Gene Tree for AGAP1 (if available)
Gene Tree for AGAP1 (if available)

Paralogs for AGAP1 Gene

Variants for AGAP1 Gene

Sequence variations from dbSNP and Humsavar for AGAP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1001423 -- 235,841,503(-) cacag(A/G)tgcac intron-variant
rs10048633 -- 235,531,800(+) gagac(A/G)ggggt intron-variant
rs10048688 -- 235,530,654(+) ctgac(A/G)tcccc intron-variant
rs10164419 -- 235,799,057(+) TTTCA(G/T)TTTCA intron-variant
rs10164480 -- 235,939,272(+) AACGT(C/G)CCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGAP1 Gene

Variant ID Type Subtype PubMed ID
dgv2177n106 CNV deletion 24896259
dgv2178n106 CNV deletion 24896259
dgv2363e59 CNV tandem duplication 20981092
dgv2364e59 CNV duplication 20981092
dgv4191n100 CNV gain 25217958
esv1000874 CNV insertion 20482838
esv1341911 CNV insertion 17803354
esv1723837 CNV insertion 17803354
esv22988 CNV loss 19812545
esv2424821 CNV deletion 19546169
esv24255 CNV loss 19812545
esv25019 CNV loss 19812545
esv2521379 CNV deletion 19546169
esv2647729 CNV insertion 19546169
esv2659699 CNV deletion 23128226
esv2661531 CNV deletion 23128226
esv2670324 CNV deletion 23128226
esv2675448 CNV deletion 23128226
esv2721687 CNV deletion 23290073
esv2721688 CNV deletion 23290073
esv2721689 CNV deletion 23290073
esv2721690 CNV deletion 23290073
esv2721691 CNV deletion 23290073
esv2721692 CNV deletion 23290073
esv2721693 CNV deletion 23290073
esv2721697 CNV deletion 23290073
esv2721698 CNV deletion 23290073
esv2721699 CNV deletion 23290073
esv2721700 CNV deletion 23290073
esv2751845 CNV gain 17911159
esv275222 CNV loss 21479260
esv33938 CNV loss 17666407
esv3429143 CNV duplication 20981092
esv3439920 CNV insertion 20981092
esv3561209 CNV deletion 23714750
esv3561212 CNV deletion 23714750
esv3575341 CNV gain 25503493
esv3584379 CNV loss 25503493
esv3594712 CNV loss 21293372
esv3594713 CNV loss 21293372
esv3594715 CNV loss 21293372
esv3594716 CNV loss 21293372
esv3594717 CNV loss 21293372
esv3594719 CNV loss 21293372
esv3594720 CNV loss 21293372
nsv1000252 CNV loss 25217958
nsv1007000 CNV gain 25217958
nsv1009153 CNV loss 25217958
nsv1072082 CNV deletion 25765185
nsv1072083 CNV deletion 25765185
nsv1072503 CNV deletion 25765185
nsv1072504 CNV deletion 25765185
nsv1123441 CNV deletion 24896259
nsv1131562 CNV deletion 24896259
nsv1142982 CNV tandem duplication 24896259
nsv1143972 CNV deletion 24896259
nsv1147547 CNV insertion 26484159
nsv213603 CNV deletion 16902084
nsv214308 CNV insertion 16902084
nsv460141 CNV loss 19166990
nsv522224 CNV gain 19592680
nsv524185 CNV loss 19592680
nsv527654 CNV gain 19592680
nsv584720 CNV loss 21841781
nsv584721 CNV loss 21841781
nsv821919 CNV gain 20364138
nsv821922 CNV gain 20364138
nsv834575 CNV gain 17160897
nsv954221 CNV deletion 24416366
nsv961575 CNV duplication 23825009
nsv979188 CNV duplication 23825009
nsv999839 CNV gain 25217958

Variation tolerance for AGAP1 Gene

Residual Variation Intolerance Score: 9.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.99; 80.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGAP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGAP1 Gene

Disorders for AGAP1 Gene

Relevant External Links for AGAP1

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

No disorders were found for AGAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AGAP1 Gene

Publications for AGAP1 Gene

  1. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. (PMID: 15892143) Wassink T.H. … Sheffield V.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005) 3 4 22 64
  2. The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3. (PMID: 16079295) Nie Z. … Randazzo P.A. (J. Cell Sci. 2005) 3 4 22 64
  3. AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase. (PMID: 15381706) Meurer S. … Gross S. (J. Biol. Chem. 2004) 3 4 22 64
  4. AGAP1, an endosome-associated, phosphoinositide-dependent ADP- ribosylation factor GTPase-activating protein that affects actin cytoskeleton. (PMID: 12388557) Nie Z. … Randazzo P.A. (J. Biol. Chem. 2002) 3 4 22 64
  5. Genome-wide association study identifies five new schizophrenia loci. (PMID: 21926974) (Nat. Genet. 2011) 3 46 64

Products for AGAP1 Gene

Sources for AGAP1 Gene

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