The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required... See more...

Aliases for ARFGAP1 Gene

Aliases for ARFGAP1 Gene

  • ADP Ribosylation Factor GTPase Activating Protein 1 2 3 5
  • ADP-Ribosylation Factor GTPase-Activating Protein 1 3 4
  • ARF1-Directed GTPase-Activating Protein 3 4
  • ARF1GAP 3 4
  • ADP-Ribosylation Factor 1 GTPase Activating Protein 2
  • ADP-Ribosylation Factor 1 GTPase-Activating Protein 4
  • HRIHFB2281 3
  • BA261N11.3 2
  • ARF GAP 1 4
  • FLJ10767 2
  • ARF1 GAP 4
  • ARFGAP1 5

External Ids for ARFGAP1 Gene

Previous HGNC Symbols for ARFGAP1 Gene

  • ARF1GAP

Previous GeneCards Identifiers for ARFGAP1 Gene

  • GC20P061781
  • GC20P062583
  • GC20P062630
  • GC20P061374
  • GC20P061904
  • GC20P058629

Summaries for ARFGAP1 Gene

Entrez Gene Summary for ARFGAP1 Gene

  • The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for ARFGAP1 Gene

ARFGAP1 (ADP Ribosylation Factor GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with ARFGAP1 include Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant and Hypotrichosis-Lymphedema-Telangiectasia Syndrome. Among its related pathways are Neuroscience and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARFGAP2.

UniProtKB/Swiss-Prot Summary for ARFGAP1 Gene

  • GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).

Gene Wiki entry for ARFGAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARFGAP1 Gene

Genomics for ARFGAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARFGAP1 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 ARFGAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARFGAP1

Top Transcription factor binding sites by QIAGEN in the ARFGAP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • HSF1 (long)
  • HSF1short
  • MRF-2

Genomic Locations for ARFGAP1 Gene

Genomic Locations for ARFGAP1 Gene
chr20:63,272,785-63,289,790
(GRCh38/hg38)
Size:
17,006 bases
Orientation:
Plus strand
chr20:61,904,137-61,921,142
(GRCh37/hg19)
Size:
17,006 bases
Orientation:
Plus strand

Genomic View for ARFGAP1 Gene

Genes around ARFGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGAP1 Gene

Proteins for ARFGAP1 Gene

  • Protein details for ARFGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6T3-ARFG1_HUMAN
    Recommended name:
    ADP-ribosylation factor GTPase-activating protein 1
    Protein Accession:
    Q8N6T3
    Secondary Accessions:
    • B7Z3U0
    • B7Z8H8
    • B7ZBI3
    • E1P5I9
    • E7EV62
    • Q6PK71
    • Q96KC4
    • Q96T02
    • Q9NSU3
    • Q9NVF6
    • Q9UIL0

    Protein attributes for ARFGAP1 Gene

    Size:
    406 amino acids
    Molecular mass:
    44668 Da
    Quaternary structure:
    • Interacts with ARF1. Interacts with the COPI coat proteins, KDELR1 and TMED2. The interaction with TMED2 inhibits the GAP activity (By similarity).
    SequenceCaution:
    • Sequence=BAB55009.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB70901.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARFGAP1 Gene

    Alternative splice isoforms for ARFGAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARFGAP1 Gene

Post-translational modifications for ARFGAP1 Gene

  • Ubiquitination at Lys102 and Lys278
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFGAP1 Gene

Domains & Families for ARFGAP1 Gene

Gene Families for ARFGAP1 Gene

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

Protein Domains for ARFGAP1 Gene

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

Suggested Antigen Peptide Sequences for ARFGAP1 Gene

GenScript: Design optimal peptide antigens:
  • ARF1-directed GTPase-activating protein (ARFG1_HUMAN)
  • cDNA FLJ55014, highly similar to ADP-ribosylation factor GTPase-activating protein 1 (B7Z8H8_HUMAN)
  • ADP-ribosylation factor GTPase activating protein 1, isoform CRA_f (B7ZBI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N6T3

UniProtKB/Swiss-Prot:

ARFG1_HUMAN :
  • The region downstream of Arf-GAP domain is essential to GAP activity in vivo. This region may be required for its targeting to Golgi membranes (By similarity).
Domain:
  • The region downstream of Arf-GAP domain is essential to GAP activity in vivo. This region may be required for its targeting to Golgi membranes (By similarity).
genes like me logo Genes that share domains with ARFGAP1: view

Function for ARFGAP1 Gene

Molecular function for ARFGAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).

Phenotypes From GWAS Catalog for ARFGAP1 Gene

Gene Ontology (GO) - Molecular Function for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 22423108
GO:0005515 protein binding IPI 22363216
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARFGAP1: view
genes like me logo Genes that share phenotypes with ARFGAP1: view

Animal Model Products

CRISPR Products

miRNA for ARFGAP1 Gene

miRTarBase miRNAs that target ARFGAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARFGAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARFGAP1 Gene

Localization for ARFGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGAP1 Gene

Cytoplasm. Golgi apparatus. Note=Associates with the Golgi complex. {ECO:0000250}.

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 ARFGAP1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
extracellular 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with ARFGAP1: view

Pathways & Interactions for ARFGAP1 Gene

genes like me logo Genes that share pathways with ARFGAP1: view

Pathways by source for ARFGAP1 Gene

2 Qiagen pathways for ARFGAP1 Gene
  • PAK Pathway
  • Paxillin Interactions
1 Cell Signaling Technology pathway for ARFGAP1 Gene

SIGNOR curated interactions for ARFGAP1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0030100 regulation of endocytosis IBA 21873635
genes like me logo Genes that share ontologies with ARFGAP1: view

Drugs & Compounds for ARFGAP1 Gene

(2) Drugs for ARFGAP1 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
HJC 0350 Pharma 0

(5) Additional Compounds for ARFGAP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
88542-95-4

(1) ApexBio Compounds for ARFGAP1 Gene

Compound Action Cas Number
HJC 0350 885434-70-8
genes like me logo Genes that share compounds with ARFGAP1: view

Drug Products

Transcripts for ARFGAP1 Gene

mRNA/cDNA for ARFGAP1 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
23 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 ARFGAP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGAP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11: - - - - - - - - - - - - - - - - - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 15c · 15d ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11: - - - - - -
SP12:
SP13: - - -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for ARFGAP1 Gene

GeneLoc Exon Structure for
ARFGAP1

Expression for ARFGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARFGAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARFGAP1 Gene

This gene is overexpressed in Bone (14.3), Peripheral blood mononuclear cells (6.6), and Bone marrow stromal cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGAP1 Gene



Protein tissue co-expression partners for ARFGAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARFGAP1

SOURCE GeneReport for Unigene cluster for ARFGAP1 Gene:

Hs.25584

Evidence on tissue expression from TISSUES for ARFGAP1 Gene

  • Nervous system(5)
  • Liver(4.4)
  • Skin(3.1)
  • Lung(2.5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with ARFGAP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGAP1 Gene

Orthologs for ARFGAP1 Gene

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

Orthologs for ARFGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARFGAP1 30 31
  • 99.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arfgap1 30 17 31
  • 85.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARFGAP1 30 31
  • 85.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arfgap1 30
  • 84.57 (n)
Cow
(Bos Taurus)
Mammalia ARFGAP1 30
  • 83.77 (n)
ARFGAP3 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARFGAP1 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARFGAP1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARFGAP1 30 31
  • 74.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARFGAP1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arfgap1 30
  • 71.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25766 30
Zebrafish
(Danio rerio)
Actinopterygii arfgap1 30
  • 64.82 (n)
ARFGAP1 31
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6838 32
  • 38 (a)
Gap69C 31
  • 33 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea K02B12.7 31
  • 39 (a)
OneToOne
F07F6.4 32
  • 37 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL164C 30
  • 50 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCS1 30 31 33
  • 48.15 (n)
OneToMany
SPS18 31
  • 18 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18942g 30
  • 47.73 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07734 30
  • 46.12 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC622.14 30
  • 43.56 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6254 31
  • 43 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11804 30
Species where no ortholog for ARFGAP1 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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)

Evoluti