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Aliases for ARFGEF1 Gene

Aliases for ARFGEF1 Gene

  • ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1 2 3 5
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 (Brefeldin A-Inhibited) 2 3
  • P200 ARF Guanine Nucleotide Exchange Factor 3 4
  • ARFGEP1 3 4
  • BIG1 3 4
  • ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 1 4
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 1 2
  • Brefeldin A-Inhibited GEP 1 4
  • P200 ARF-GEP1 4
  • P200 3

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) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. 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

Promoters for ARFGEF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARFGEF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARFGEF1 Gene

Chromosome:
8
Start:
67,173,511 bp from pter
End:
67,343,897 bp from pter
Size:
170,387 bases
Orientation:
Minus strand

Genomic View for ARFGEF1 Gene

Genes around ARFGEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 1694
  • Modification sites at PhosphoSitePlus

Other Protein References for ARFGEF1 Gene

Antibody Products

No data available for DME Specific Peptides for ARFGEF1 Gene

Domains & Families 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 :
  • Contains 1 SEC7 domain.
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:0005086 ARF guanyl-nucleotide exchange factor activity IEA,IBA --
GO:0005096 NOT GTPase activator activity IDA 15644318
GO:0034237 protein kinase A regulatory subunit binding IDA 12571360
genes like me logo Genes that share ontologies with ARFGEF1: view
genes like me logo Genes that share phenotypes with ARFGEF1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ARFGEF1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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:0005829 cytosol IDA 10716990
GO:0016363 nuclear matrix IEA --
GO:0030532 small nuclear ribonucleoprotein complex IDA 18292223
genes like me logo Genes that share ontologies with ARFGEF1: view

Pathways & Interactions for ARFGEF1 Gene

SuperPathways for ARFGEF1 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with ARFGEF1: view

Pathways by source for ARFGEF1 Gene

1 KEGG pathway for ARFGEF1 Gene

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:0034260 negative regulation of GTPase activity IDA 15644318
GO:2000114 regulation of establishment of cell polarity IMP 22084092
genes like me logo Genes that share ontologies with ARFGEF1: view

No data available for SIGNOR curated interactions for ARFGEF1 Gene

Drugs & Compounds for ARFGEF1 Gene

(2) Drugs for ARFGEF1 Gene - From: Novoseek and HMDB

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

(3) Additional Compounds for ARFGEF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for ARFGEF1 Gene

This gene is overexpressed in Bone (24.8), Nasal epithelium (10.6), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ARFGEF1: view

Protein tissue co-expression partners for ARFGEF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia ARFGEF1 35
  • 99.82 (n)
  • 99.89 (a)
ARFGEF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfgef1 35
  • 91.46 (n)
  • 97.13 (a)
oppossum
(Monodelphis domestica)
Mammalia ARFGEF1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF1 36
  • 95 (a)
OneToOne
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)
wufj64h08 35
arfgef1 36
  • 86 (a)
OneToOne
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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17358g 35
  • 46.82 (n)
  • 34.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 35
  • 47.5 (n)
  • 35.46 (a)
SEC7 36
  • 27 (a)
OneToMany
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

(8) 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
rs4321984 - 67,291,946(-) TTTAT(A/C/G/T)TACAT reference, missense
VAR_036155 A colorectal cancer sample
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

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

Variation tolerance for ARFGEF1 Gene

Residual Variation Intolerance Score: 1.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.98% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARFGEF1

No disorders were found for ARFGEF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin. (PMID: 18292223) Padilla P.I. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  3. Redundant roles of BIG2 and BIG1, guanine-nucleotide exchange factors for ADP-ribosylation factors in membrane traffic between the trans-Golgi network and endosomes. (PMID: 18417613) Ishizaki R. … Nakayama K. (Mol. Biol. Cell 2008) 3 23
  4. Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A. (PMID: 19020088) Shen X. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  5. Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma. (PMID: 17360629) Kuroda F. … Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23

Products for ARFGEF1 Gene

Sources for ARFGEF1 Gene

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