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Aliases for ARFGEF1 Gene

Aliases for ARFGEF1 Gene

  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 (Brefeldin A-Inhibited) 2 3
  • ARFGEP1 3 4 6
  • BIG1 3 4 6
  • P200 ARF Guanine Nucleotide Exchange Factor 3 4
  • P200 3 6
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 4
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 1 3
  • Brefeldin A-Inhibited GEP 1 4
  • P200 ARF-GEP1 4

External Ids for ARFGEF1 Gene

Previous GeneCards Identifiers for ARFGEF1 Gene

  • GC08M068272
  • GC08M068109
  • GC08M063601
  • GC08M068085

Summaries for ARFGEF1 Gene

Entrez Gene Summary for ARFGEF1 Gene

  • ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]

GeneCards Summary for ARFGEF1 Gene

ARFGEF1 (ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 (Brefeldin A-Inhibited)) is a Protein Coding gene. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and myosin binding. An important paralog of this gene is ENSG00000268465.

UniProtKB/Swiss-Prot for ARFGEF1 Gene

  • Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.

Gene Wiki entry for ARFGEF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGEF1 Gene

Genomics for ARFGEF1 Gene

Regulatory Elements for ARFGEF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ARFGEF1 Gene

Start:
67,173,511 bp from pter
End:
67,343,687 bp from pter
Size:
170,177 bases
Orientation:
Minus strand

Genomic View for ARFGEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARFGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFGEF1 Gene

Proteins for ARFGEF1 Gene

  • Protein details for ARFGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6D6-BIG1_HUMAN
    Recommended name:
    Brefeldin A-inhibited guanine nucleotide-exchange protein 1
    Protein Accession:
    Q9Y6D6
    Secondary Accessions:
    • Q9NV46
    • Q9UFV2
    • Q9UNL0

    Protein attributes for ARFGEF1 Gene

    Size:
    1849 amino acids
    Molecular mass:
    208767 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts with BIG1; both proteins are probably part of the same or very similar macromolecular complexes. Interacts with FKBP2, DPY30, MYO9B, PRKAR1A, PRKAR2A, PPP1CC and PDE3A. Interacts with KANK1; however, colocalization cannot be experimentally confirmed. Interacts with NCL, FBL, NUP62 and U3 small nucleolar RNA.

    Three dimensional structures from OCA and Proteopedia for ARFGEF1 Gene

neXtProt entry for ARFGEF1 Gene

Proteomics data for ARFGEF1 Gene at MOPED

Post-translational modifications for ARFGEF1 Gene

  • Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
  • Ubiquitination at Lys1224 and Lys1694
  • Modification sites at PhosphoSitePlus

Other Protein References for ARFGEF1 Gene

No data available for DME Specific Peptides for ARFGEF1 Gene

Domains for ARFGEF1 Gene

Protein Domains for ARFGEF1 Gene

Suggested Antigen Peptide Sequences for ARFGEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6D6

UniProtKB/Swiss-Prot:

BIG1_HUMAN :
  • Q9Y6D6
Domain:
  • Contains 1 SEC7 domain.
genes like me logo Genes that share domains with ARFGEF1: view

No data available for Gene Families for ARFGEF1 Gene

Function for ARFGEF1 Gene

Molecular function for ARFGEF1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by brefeldin A
UniProtKB/Swiss-Prot Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.

Gene Ontology (GO) - Molecular Function for ARFGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 15644318
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005096 NOT GTPase activator activity IDA 15644318
GO:0005488 binding --
GO:0005515 protein binding IPI 10716990
genes like me logo Genes that share ontologies with ARFGEF1: view

Phenotypes for ARFGEF1 Gene

genes like me logo Genes that share phenotypes with ARFGEF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARFGEF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ARFGEF1 Gene

Localization for ARFGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGEF1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Nucleus. Nucleus, nucleolus. Nucleus matrix. Membrane. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARFGEF1 Gene COMPARTMENTS Subcellular localization image for ARFGEF1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ARFGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 10716990
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA 14973189
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ARFGEF1: view

Pathways for ARFGEF1 Gene

SuperPathways for ARFGEF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARFGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis TAS 10212200
GO:0007030 Golgi organization IMP 17227842
GO:0010256 endomembrane system organization IMP 20360857
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IBA --
genes like me logo Genes that share ontologies with ARFGEF1: view

No data available for Pathways by source for ARFGEF1 Gene

Compounds for ARFGEF1 Gene

(1) HMDB Compounds for ARFGEF1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(4) Novoseek inferred chemical compound relationships for ARFGEF1 Gene

Compound -log(P) Hits PubMed IDs
gdp 76.5 3
gtp 67.8 3
guanosine 5-o-(3-thiotriphosphate) 67.1 2
nocodazole 63.4 2
genes like me logo Genes that share compounds with ARFGEF1: view

Transcripts for ARFGEF1 Gene

Unigene Clusters for ARFGEF1 Gene

ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARFGEF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ARFGEF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGEF1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d ^ 35a · 35b ^ 36a · 36b · 36c ^ 37a · 37b ^ 38a · 38b · 38c
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:

Relevant External Links for ARFGEF1 Gene

GeneLoc Exon Structure for
ARFGEF1
ECgene alternative splicing isoforms for
ARFGEF1

Expression for ARFGEF1 Gene

mRNA expression in normal human tissues for ARFGEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARFGEF1 Gene

SOURCE GeneReport for Unigene cluster for ARFGEF1 Gene Hs.656902

mRNA Expression by UniProt/SwissProt for ARFGEF1 Gene

Q9Y6D6-BIG1_HUMAN
Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas
genes like me logo Genes that share expressions with ARFGEF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ARFGEF1 Gene

Orthologs for ARFGEF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARFGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARFGEF1 35
  • 99.82 (n)
  • 99.89 (a)
ARFGEF1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFGEF1 35
  • 93.58 (n)
  • 98.32 (a)
ARFGEF1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARFGEF1 35
  • 95.35 (n)
  • 98.76 (a)
ARFGEF1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arfgef1 35
  • 91.95 (n)
  • 97.45 (a)
Arfgef1 16
Arfgef1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARFGEF1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfgef1 35
  • 91.46 (n)
  • 97.13 (a)
chicken
(Gallus gallus)
Aves ARFGEF1 35
  • 84.59 (n)
  • 94.85 (a)
ARFGEF1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFGEF1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgef1 35
  • 78.14 (n)
  • 89.39 (a)
zebrafish
(Danio rerio)
Actinopterygii arfgef1 35
  • 74.73 (n)
  • 87.77 (a)
arfgef1 36
  • 86 (a)
OneToOne
wufj64h08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008906 35
  • 61.48 (n)
  • 71.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta sec71 35
  • 60.78 (n)
  • 68.1 (a)
sec71 36
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea agef-1 35
  • 54.28 (n)
  • 50.3 (a)
agef-1 36
  • 48 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL147C 35
  • 46.65 (n)
  • 35.02 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 35
  • 47.5 (n)
  • 35.46 (a)
SEC7 36
  • 27 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17358g 35
  • 46.82 (n)
  • 34.77 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60860 35
  • 48.85 (n)
  • 39.66 (a)
rice
(Oryza sativa)
Liliopsida Os.10527 35
Os03g0246800 35
  • 50.89 (n)
  • 40.59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07658 35
  • 46.85 (n)
  • 39.01 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec72 35
  • 47.09 (n)
  • 35.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
ManyToMany
-- 36
  • 84 (a)
ManyToMany
Species with no ortholog for ARFGEF1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARFGEF1 Gene

ENSEMBL:
Gene Tree for ARFGEF1 (if available)
TreeFam:
Gene Tree for ARFGEF1 (if available)

Paralogs for ARFGEF1 Gene

Selected SIMAP similar genes for ARFGEF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ARFGEF1: view

Variants for ARFGEF1 Gene

Sequence variations from dbSNP and Humsavar for ARFGEF1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1172 -- 67,213,425(+) TGTGT(C/G)TGGGA intron-variant
rs166773 -- 67,312,054(+) taaga(A/G)tcatc intron-variant
rs278922 -- 67,312,048(+) gctcg(G/T)taaga intron-variant
rs278923 -- 67,312,141(+) gacct(C/T)tgttc intron-variant
rs278924 -- 67,312,161(+) tctgc(C/T)gacct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARFGEF1 Gene

Variant ID Type Subtype PubMed ID
esv7037 CNV Gain 19470904
dgv1291e199 CNV Deletion 23128226
esv2737121 CNV Deletion 23290073
esv23466 CNV Loss 19812545
esv2752263 CNV Gain 17911159
esv2664076 CNV Deletion 23128226
esv2578987 CNV Deletion 19546169
esv2752264 CNV Gain 17911159

Relevant External Links for ARFGEF1 Gene

HapMap Linkage Disequilibrium report
ARFGEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGEF1 Gene

Disorders for ARFGEF1 Gene

Relevant External Links for ARFGEF1

Genetic Association Database (GAD)
ARFGEF1
Human Genome Epidemiology (HuGE) Navigator
ARFGEF1
genes like me logo Genes that share disorders with ARFGEF1: view

No data available for UniProtKB/Swiss-Prot for ARFGEF1 Gene

Publications for ARFGEF1 Gene

  1. Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PMID: 10212200) Togawa A. … Vaughan M. (J. Biol. Chem. 1999) 2 3 4 23
  2. p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. (PMID: 10393931) Mansour S.J. … Melancon P. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2). (PMID: 12571360) Li H. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  4. Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506. (PMID: 12606707) Padilla P.I. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  5. Nuclear localization and molecular partners of BIG1, a brefeldin A- inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PMID: 14973189) Padilla P.I. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23

Products for ARFGEF1 Gene

Sources for ARFGEF1 Gene

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