The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat pro... See more...

Aliases for ARFGAP3 Gene

Aliases for ARFGAP3 Gene

  • ADP Ribosylation Factor GTPase Activating Protein 3 2 3 5
  • ADP-Ribosylation Factor GTPase-Activating Protein 3 3 4
  • ADP-Ribosylation Factor GTPase Activating Protein 1 2 3
  • ARF GAP 3 3 4
  • ARFGAP1 3 4

External Ids for ARFGAP3 Gene

Previous HGNC Symbols for ARFGAP3 Gene

  • ARFGAP1

Previous GeneCards Identifiers for ARFGAP3 Gene

  • GC22M039795
  • GC22M041423
  • GC22M041517
  • GC22M043192
  • GC22M026151

Summaries for ARFGAP3 Gene

Entrez Gene Summary for ARFGAP3 Gene

  • The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]

GeneCards Summary for ARFGAP3 Gene

ARFGAP3 (ADP Ribosylation Factor GTPase Activating Protein 3) is a Protein Coding gene. Diseases associated with ARFGAP3 include Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant and Hypersensitivity Reaction Type Iv Disease. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and protein transporter activity. An important paralog of this gene is ARFGAP2.

UniProtKB/Swiss-Prot Summary for ARFGAP3 Gene

  • GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.

Tocris Summary for ARFGAP3 Gene

  • Small G proteins (small GTPases) are homologous to Galpha proteins and are often referred to as the Ras proto-oncogene superfamily. Small GTPases regulate a wide variety of processes in the cell, including growth, differentiation, movement and lipid vesicle transport.

Gene Wiki entry for ARFGAP3 Gene

Additional gene information for ARFGAP3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARFGAP3 Gene

Genomics for ARFGAP3 Gene

GeneHancer (GH) Regulatory Elements for ARFGAP3 Gene

Promoters and enhancers for ARFGAP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARFGAP3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARFGAP3

Top Transcription factor binding sites by QIAGEN in the ARFGAP3 gene promoter:
  • CUTL1
  • FOXO4
  • LCR-F1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for ARFGAP3 Gene

Genomic Locations for ARFGAP3 Gene
chr22:42,796,502-42,858,106
(GRCh38/hg38)
Size:
61,605 bases
Orientation:
Minus strand
chr22:43,192,508-43,254,112
(GRCh37/hg19)
Size:
61,605 bases
Orientation:
Minus strand

Genomic View for ARFGAP3 Gene

Genes around ARFGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGAP3 Gene

Proteins for ARFGAP3 Gene

  • Protein details for ARFGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP61-ARFG3_HUMAN
    Recommended name:
    ADP-ribosylation factor GTPase-activating protein 3
    Protein Accession:
    Q9NP61
    Secondary Accessions:
    • E9PB03
    • Q9BSC6
    • Q9H9J0
    • Q9NT10
    • Q9NUP5
    • Q9Y4V3
    • Q9Y4V4

    Protein attributes for ARFGAP3 Gene

    Size:
    516 amino acids
    Molecular mass:
    56928 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92076.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14236.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARFGAP3 Gene

    Alternative splice isoforms for ARFGAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARFGAP3 Gene

Post-translational modifications for ARFGAP3 Gene

  • Ubiquitination at Lys392, Lys425, and Lys467
  • Modification sites at PhosphoSitePlus

Other Protein References for ARFGAP3 Gene

No data available for DME Specific Peptides for ARFGAP3 Gene

Domains & Families for ARFGAP3 Gene

Gene Families for ARFGAP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARFGAP3 Gene

Blocks:
  • HIV Rev interacting protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARFGAP3 Gene

GenScript: Design optimal peptide antigens:
  • ADP-ribosylation factor GTPase-activating protein 3 (ARFG3_HUMAN)
  • ADP-ribosylation factor GTPase activating protein 3 (B0QYV7_HUMAN)
genes like me logo Genes that share domains with ARFGAP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARFGAP3 Gene

Function for ARFGAP3 Gene

Molecular function for ARFGAP3 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes.
UniProtKB/Swiss-Prot EnzymeRegulation:
GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2).

Phenotypes From GWAS Catalog for ARFGAP3 Gene

Gene Ontology (GO) - Molecular Function for ARFGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,IEA 11172815
GO:0005515 protein binding IPI 24705354
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARFGAP3: view
genes like me logo Genes that share phenotypes with ARFGAP3: view

Animal Model Products

CRISPR Products

miRNA for ARFGAP3 Gene

miRTarBase miRNAs that target ARFGAP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGAP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARFGAP3 Gene

Localization for ARFGAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGAP3 Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Note=Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment.

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 ARFGAP3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
extracellular 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARFGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ARFGAP3: view

Pathways & Interactions for ARFGAP3 Gene

genes like me logo Genes that share pathways with ARFGAP3: view

Pathways by source for ARFGAP3 Gene

2 Qiagen pathways for ARFGAP3 Gene
  • PAK Pathway
  • Paxillin Interactions

Gene Ontology (GO) - Biological Process for ARFGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport NAS 11172815
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0009306 protein secretion IEP 11172815
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with ARFGAP3: view

No data available for SIGNOR curated interactions for ARFGAP3 Gene

Drugs & Compounds for ARFGAP3 Gene

(4) Drugs for ARFGAP3 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
NSC 23766 Pharma Selective inhibitor of Rac1-GEF interaction., Selective inhibitor of Rac1-GEF interaction; antioncogenic 0
QS 11 Pharma Wnt synergistic agonist, ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 0

(4) Additional Compounds for ARFGAP3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Rac1 Inhibitor F56, control peptide
1315378-77-8
Rac1 Inhibitor W56
1095179-01-3
SecinH3
853625-60-2

(5) Tocris Compounds for ARFGAP3 Gene

Compound Action Cas Number
NSC 23766 Selective inhibitor of Rac1-GEF interaction; antioncogenic 1177865-17-6
QS 11 ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 944328-88-5
Rac1 Inhibitor F56, control peptide Control peptide version of Rac1 Inhibitor W56 (Cat. No. 2221) 1315378-77-8
Rac1 Inhibitor W56 Selective inhibitor of Rac1-GEF interaction 1095179-01-3
SecinH3 Sec7-specific GEF inhibitor (cytohesins) 853625-60-2
genes like me logo Genes that share compounds with ARFGAP3: view

Transcripts for ARFGAP3 Gene

mRNA/cDNA for ARFGAP3 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGAP3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGAP3 Gene

No ASD Table

Relevant External Links for ARFGAP3 Gene

GeneLoc Exon Structure for
ARFGAP3

Expression for ARFGAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARFGAP3 Gene

Protein differential expression in normal tissues from HIPED for ARFGAP3 Gene

This gene is overexpressed in Bone marrow stromal cell (12.3), Heart (9.8), Skin (7.2), and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGAP3 Gene



Protein tissue co-expression partners for ARFGAP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARFGAP3

SOURCE GeneReport for Unigene cluster for ARFGAP3 Gene:

Hs.685225

mRNA Expression by UniProt/SwissProt for ARFGAP3 Gene:

Q9NP61-ARFG3_HUMAN
Tissue specificity: Widely expressed. Highest expression in endocrine glands (pancreas, pituitary gland, salivary gland, and prostate) and testis with a much higher expression in the testis than in the ovary.

Evidence on tissue expression from TISSUES for ARFGAP3 Gene

  • Liver(4.3)
  • Lung(4.3)
  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with ARFGAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGAP3 Gene

Orthologs for ARFGAP3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARFGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARFGAP3 30
  • 97.76 (n)
dog
(Canis familiaris)
Mammalia ARFGAP3 31 30
  • 87.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARFGAP3 31 30
  • 86.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arfgap3 17 31 30
  • 79.52 (n)
rat
(Rattus norvegicus)
Mammalia Arfgap3 30
  • 79.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ARFGAP3 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARFGAP3 31 30
  • 71.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFGAP3 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgap3 30
  • 65.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia arfgap3-prov 30
zebrafish
(Danio rerio)
Actinopterygii arfgap3 31
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ArfGAP3 31
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F07F6.4 31
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO3 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for ARFGAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 ARFGAP3 Gene

ENSEMBL:
Gene Tree for ARFGAP3 (if available)
TreeFam:
Gene Tree for ARFGAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARFGAP3: view image

Paralogs for ARFGAP3 Gene

(25) SIMAP similar genes for ARFGAP3 Gene using alignment to 5 proteins:

  • ARFG3_HUMAN
  • B0QYV8_HUMAN
  • B0QYV9_HUMAN
  • C9JZR4_HUMAN
  • H0Y6A0_HUMAN
genes like me logo Genes that share paralogs with ARFGAP3: view

Variants for ARFGAP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARFGAP3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
VAR_036177 A breast cancer sample p.Glu290Gly
rs1018448 - p.Ser355Arg
rs11551619 - p.Gln490Arg
rs16986123 - p.Ser370Gly
rs35498349 - p.Gln468His

Additional dbSNP identifiers (rs#s) for ARFGAP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARFGAP3 Gene

Variant ID Type Subtype PubMed ID
esv2549553 CNV insertion 19546169
nsv508738 CNV insertion 20534489
nsv589084 CNV loss 21841781

Variation tolerance for ARFGAP3 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARFGAP3 Gene

Human Gene Mutation Database (HGMD)
ARFGAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGAP3 Gene

Disorders for ARFGAP3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARFGAP3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARFGAP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARFGAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARFGAP3 Gene

Publications for ARFGAP3 Gene

  1. Functional characterization of novel human ARFGAP3. (PMID: 11172815) Liu X … He F (FEBS letters 2001) 2 3 4 23 54
  2. Characterization, chromosomal assignment, and tissue expression of a novel human gene belonging to the ARF GAP family. (PMID: 10704287) Zhang C … He F (Genomics 2000) 2 3 4 23 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking. (PMID: 19015319) Weimer C … Wieland F (The Journal of cell biology 2008) 3 23 54
  5. Two human ARFGAPs associated with COP-I-coated vesicles. (PMID: 17760859) Frigerio G … Duden R (Traffic (Copenhagen, Denmark) 2007) 3 4 54

Products for ARFGAP3 Gene

Sources for ARFGAP3 Gene