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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 Unfolded Protein Response (UPR). 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

Promoters for ARFGAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARFGAP1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ARFGAP1 Gene at MOPED

Post-translational modifications for ARFGAP1 Gene

  • Ubiquitination at Lys 102 and Lys 278
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ARFGAP1 (ARF GAP1)

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005829 cytosol TAS --
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 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:0030100 regulation of endocytosis IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0048205 COPI coating of Golgi vesicle TAS --
GO:0061024 membrane organization TAS --
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
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide hydroxide inner salt
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide inner salt
  • 1,2-Bis(hexadecanoyl)-sn-glycero-3-phosphocholine
  • 1,2-Bis(palmitoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dihexadecanoyl-sn-glycerol-3-phosphorylcholine
63-89-8, 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
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:

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, MOPED, and MaxQB for ARFGAP1 Gene



SOURCE GeneReport for Unigene cluster for ARFGAP1 Gene Hs.25584

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

Protein tissue co-expression partners for ARFGAP1 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 98 (a)
OneToOne
ARFGAP1 35
  • 99.01 (n)
  • 98.28 (a)
cow
(Bos Taurus)
Mammalia ARFGAP1 35
  • 83.77 (n)
  • 84.55 (a)
ARFGAP3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARFGAP1 36
  • 82 (a)
OneToOne
ARFGAP1 35
  • 85.14 (n)
  • 83.74 (a)
mouse
(Mus musculus)
Mammalia Arfgap1 36
  • 85 (a)
OneToOne
Arfgap1 16
Arfgap1 35
  • 85.77 (n)
  • 87.34 (a)
oppossum
(Monodelphis domestica)
Mammalia ARFGAP1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGAP1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfgap1 35
  • 84.57 (n)
  • 86.14 (a)
chicken
(Gallus gallus)
Aves ARFGAP1 35
  • 74.36 (n)
  • 78.41 (a)
ARFGAP1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFGAP1 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25766 35
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgap1 35
  • 71.7 (n)
  • 71.87 (a)
zebrafish
(Danio rerio)
Actinopterygii ARFGAP1 36
  • 53 (a)
OneToOne
arfgap1 35
  • 64.82 (n)
  • 64.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6838 37
  • 38 (a)
Gap69C 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K02B12.7 36
  • 39 (a)
OneToOne
F07F6.4 37
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL164C 35
  • 50 (n)
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCS1 35
  • 48.15 (n)
  • 36.2 (a)
GCS1 36
  • 27 (a)
OneToMany
SPS18 36
  • 18 (a)
OneToMany
GCS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18942g 35
  • 47.73 (n)
  • 36.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07734 35
  • 46.12 (n)
  • 34.75 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC622.14 35
  • 43.56 (n)
  • 33.71 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11804 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6254 36
  • 43 (a)
OneToOne
Species with no ortholog for ARFGAP1:
  • 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

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

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
rs2273499 - 63,278,918(+) GCTAC(A/G)TGGGG nc-transcript-variant, reference, missense
rs13865 -- 63,288,129(+) GGACT(C/T)AAGGC nc-transcript-variant, utr-variant-3-prime
rs2236195 -- 63,281,363(+) GCCCC(C/T)GCCAT intron-variant
rs1543449 -- 63,290,180(+) CCCCC(C/T)ATGCT downstream-variant-500B
rs911065 -- 63,283,113(+) ACTGC(A/G)GCCGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv913073 CNV Loss 21882294
nsv9825 CNV Gain 18304495
dgv4618n71 CNV Loss 21882294
nsv913161 CNV Loss 21882294
nsv913165 CNV Loss 21882294
nsv913166 CNV Loss 21882294
dgv4626n71 CNV Loss 21882294
dgv4627n71 CNV Loss 21882294
dgv4628n71 CNV Loss 21882294
dgv4629n71 CNV Loss 21882294
nsv834032 CNV Loss 17160897
nsv470560 CNV Loss 18288195
nsv525279 CNV Loss 19592680
nsv913177 CNV Loss 21882294
dgv4630n71 CNV Loss 21882294
nsv3446 CNV Loss 18451855
nsv913181 CNV Loss 21882294
dgv4631n71 CNV Loss 21882294
nsv913183 CNV Loss 21882294
dgv4632n71 CNV Loss 21882294
esv2722903 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
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 67
  2. Expression, purification, and properties of ADP-ribosylation factor (ARF) GTPase activating protein-1. (PMID: 11210549) Huber I. … Cassel D. (Meth. Enzymol. 2001) 2 3
  3. The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1. (PMID: 9405360) Aoe T. … Hsu V.W. (EMBO J. 1997) 3 23
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ARFGAP1 Gene

Sources for ARFGAP1 Gene

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