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Aliases for ARFGAP1 Gene

Aliases for ARFGAP1 Gene

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

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. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot 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 vesicles 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGAP1 Gene

Genomics for ARFGAP1 Gene

Regulatory Elements for ARFGAP1 Gene

Enhancers for ARFGAP1 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
GH20F063352 0.4 ENCODE 15.7 +79.7 79729 0.2 RING1 KLF1 POLR2A ZNF341 GLIS1 ZIC2 KDM6A RTEL1 ARFGAP1 TNFRSF6B ZNF512B GC20M063359 GC20M063341
GH20F063452 1.2 FANTOM5 Ensembl ENCODE 15.6 +182.0 182048 5.5 HDGF PKNOX1 CREB3L1 ZNF207 FOS ZNF263 SP3 JUNB ZHX2 REST MIR647 RTEL1 ENSG00000226390 EEF1A2 ZNF512B KCNQ2 ARFGAP1 TNFRSF6B LOC105372725 MIR1914
GH20F063457 0.5 Ensembl 15.6 +184.9 184917 0.2 RING1 BCOR ATF1 ZNF175 MAX BACH1 EBF1 ZIC2 HIC1 ZNF335 RTEL1 ARFGAP1 TNFRSF6B ZNF512B EEF1A2 LOC105372725 ENSG00000226390 KCNQ2
GH20F062708 1 Ensembl ENCODE 15.6 -561.9 -561859 4.3 ATF1 CBX3 PKNOX1 KLF17 SIN3A GLIS2 SCRT2 CREM REST CREB3 RTEL1 ARFGAP1 TNFRSF6B ENSG00000223669 OGFR OGFR-AS1 SLCO4A1-AS1 SLCO4A1 MRGBP MIR133A2
GH20F062471 1.1 Ensembl ENCODE 15.6 -791.4 -791351 20.0 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 GLIS2 GATA2 FOS ZNF263 GATA5 ARFGAP1 MTG2 LOC105372711 GC20M062490
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARFGAP1 on UCSC Golden Path with GeneCards custom track

Promoters for ARFGAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000404320 16 2400 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143

Genomic Location for ARFGAP1 Gene

Chromosome:
20
Start:
63,272,785 bp from pter
End:
63,289,793 bp from pter
Size:
17,009 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55113.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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 Lys 102 and Lys 278
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFGAP1 Gene

Domains & Families for ARFGAP1 Gene

Gene Families for ARFGAP1 Gene

Protein Domains for ARFGAP1 Gene

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).
  • Contains 1 Arf-GAP domain.
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 vesicles 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 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

miRNA for ARFGAP1 Gene

miRTarBase miRNAs that target ARFGAP1

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 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
Jensen Localization Image for ARFGAP1 Gene COMPARTMENTS Subcellular localization image for ARFGAP1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 4

Gene Ontology (GO) - Cellular Components for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
GO:0045202 synapse 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

1 Cell Signaling Technology pathway for ARFGAP1 Gene
1 BioSystems pathway for ARFGAP1 Gene
1 KEGG pathway for ARFGAP1 Gene
2 Qiagen pathways 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:0006810 transport IEA --
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 --
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: Novoseek and HMDB

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-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
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

Unigene Clusters for ARFGAP1 Gene

ADP-ribosylation factor GTPase activating protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
ARFGAP1

Expression for ARFGAP1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for ARFGAP1 Gene



Protein tissue co-expression partners for ARFGAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARFGAP1 Gene:

ARFGAP1

SOURCE GeneReport for Unigene cluster for ARFGAP1 Gene:

Hs.25584
genes like me logo Genes that share expression patterns with ARFGAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.01 (n)
mouse
(Mus musculus)
Mammalia Arfgap1 34 16 35
  • 85.77 (n)
dog
(Canis familiaris)
Mammalia ARFGAP1 34 35
  • 85.14 (n)
rat
(Rattus norvegicus)
Mammalia Arfgap1 34
  • 84.57 (n)
cow
(Bos Taurus)
Mammalia ARFGAP1 34
  • 83.77 (n)
ARFGAP3 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGAP1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARFGAP1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARFGAP1 34 35
  • 74.36 (n)
lizard
(Anolis carolinensis)
Reptilia ARFGAP1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgap1 34
  • 71.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25766 34
zebrafish
(Danio rerio)
Actinopterygii arfgap1 34
  • 64.82 (n)
ARFGAP1 35
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6838 36
  • 38 (a)
Gap69C 35
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K02B12.7 35
  • 39 (a)
OneToOne
F07F6.4 36
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL164C 34
  • 50 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCS1 34 35 37
  • 48.15 (n)
SPS18 35
  • 18 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18942g 34
  • 47.73 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07734 34
  • 46.12 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC622.14 34
  • 43.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6254 35
  • 43 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11804 34
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)

Evolution for ARFGAP1 Gene

ENSEMBL:
Gene Tree for ARFGAP1 (if available)
TreeFam:
Gene Tree for ARFGAP1 (if available)

Paralogs for ARFGAP1 Gene

No data available for Paralogs for ARFGAP1 Gene

Variants for ARFGAP1 Gene

Sequence variations from dbSNP and Humsavar for ARFGAP1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10211726 -- 63,280,480(+) AACTA(A/G)CATGA intron-variant
rs11086161 -- 63,284,023(+) GGTCC(G/T)TGGCT intron-variant, nc-transcript-variant, upstream-variant-2KB
rs111277388 -- 63,284,109(+) CCCCG(G/T)GCAAA intron-variant, nc-transcript-variant, upstream-variant-2KB
rs111300380 -- 63,276,415(+) CGATG(C/G)TGGGT intron-variant
rs111605167 -- 63,284,368(+) GTGGC(C/T)GTGTG intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ARFGAP1 Gene

Variant ID Type Subtype PubMed ID
esv2722903 CNV deletion 23290073
nsv3446 CNV deletion 18451855
nsv470560 CNV loss 18288195
nsv525279 CNV loss 19592680
nsv586563 CNV loss 21841781
nsv586564 CNV loss 21841781
nsv834032 CNV loss 17160897
nsv953306 CNV deletion 24416366
nsv9825 CNV gain 18304495

Variation tolerance for ARFGAP1 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARFGAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGAP1 Gene

Disorders for ARFGAP1 Gene

Relevant External Links for ARFGAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARFGAP1

No disorders were found for ARFGAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARFGAP1 Gene

Publications for ARFGAP1 Gene

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Expression, purification, and properties of ADP-ribosylation factor (ARF) GTPase activating protein-1. (PMID: 11210549) Huber I. … Cassel D. (Meth. Enzymol. 2001) 2 3 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for ARFGAP1 Gene