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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
  • Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 1 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 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. Diseases associated with ARFGEF1 include Hypertrophy Of Breast. 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 ARFGEF2.

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

Additional gene information for ARFGEF1 Gene

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

Genomics for ARFGEF1 Gene

Regulatory Elements for ARFGEF1 Gene

Enhancers for ARFGEF1 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
GH08H067061 1.4 ENCODE dbSUPER 37.9 +280.4 280416 5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ARFGEF1 C8orf44 TCF24 CSPP1 COPS5
GH08H066663 1.4 ENCODE dbSUPER 21.1 +677.7 677700 6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ARFGEF1 MYBL1 C8orf44 C8orf46 VCPIP1 ENSG00000201365
GH08H066922 1.1 ENCODE 12.1 +419.3 419292 5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF766 ZNF143 C8orf44 CSPP1 ARFGEF1 TCF24 VCPIP1 SNHG6 SNORD87 GC08M066924
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARFGEF1 on UCSC Golden Path with GeneCards custom track

Promoters for ARFGEF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225473 297 2801 PKNOX1 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 SP3 ZHX2

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 (PubMed:17640864). Interacts with ARFGEF2/BIG2; both proteins are probably part of the same or very similar macromolecular complexes (PubMed:10716990). Interacts with FKBP2 (PubMed:12606707). Interacts with MYO9B (PubMed:15644318). Interacts with PRKAR1A and PRKAR2A (PubMed:12571360). Interacts with PPP1CC (PubMed:17360629). Interacts with NCL, FBL, NUP62 and U3 small nucleolar RNA (PubMed:14973189, PubMed:18292223). Interacts with DPY30 (PubMed:19651892). Interacts with PDE3A (PubMed:19332778). Interacts with KANK1 (PubMed:22084092). Interacts with TBC1D22A and TBC1D22B (PubMed:23572552).

    Three dimensional structures from OCA and Proteopedia for ARFGEF1 Gene

neXtProt entry for ARFGEF1 Gene

Post-translational modifications for ARFGEF1 Gene

  • Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.
  • Ubiquitination at posLast=16941694
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFGEF1 Gene

Domains & Families for ARFGEF1 Gene

Gene Families for ARFGEF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ARFGEF1 Gene

Gene Ontology (GO) - Molecular Function for ARFGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA,IEA 15644318
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005096 NOT GTPase activator activity IDA 15644318
GO:0005515 protein binding IPI 10716990
GO:0017022 myosin binding IPI 15644318
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARFGEF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 ARFGEF1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Nucleoplasm (4)
See all subcellular structures

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 IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA,IDA 14973189
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ARFGEF1: view

Pathways & Interactions for ARFGEF1 Gene

SuperPathways for ARFGEF1 Gene

SuperPathway 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:0006810 transport IEA --
GO:0006887 exocytosis TAS 10212200
GO:0007030 Golgi organization IMP 17227842
GO:0010256 endomembrane system organization IMP 20360857
GO:0015031 protein transport IEA --
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: HMDB and Novoseek

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARFGEF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ARFGEF1 Gene



Protein tissue co-expression partners for ARFGEF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARFGEF1 Gene:

ARFGEF1

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.

Evidence on tissue expression from TISSUES for ARFGEF1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with ARFGEF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia ARFGEF1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARFGEF1 33 34
  • 95.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARFGEF1 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFGEF1 33 34
  • 93.58 (n)
mouse
(Mus musculus)
Mammalia Arfgef1 33 16 34
  • 91.95 (n)
rat
(Rattus norvegicus)
Mammalia Arfgef1 33
  • 91.46 (n)
chicken
(Gallus gallus)
Aves ARFGEF1 33 34
  • 84.59 (n)
lizard
(Anolis carolinensis)
Reptilia ARFGEF1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arfgef1 33
  • 78.14 (n)
zebrafish
(Danio rerio)
Actinopterygii arfgef1 33 34
  • 74.73 (n)
wufj64h08 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008906 33
  • 61.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta sec71 33 34
  • 60.78 (n)
worm
(Caenorhabditis elegans)
Secernentea agef-1 33 34
  • 54.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 33 34
  • 47.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17358g 33
  • 46.82 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL147C 33
  • 46.65 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60860 33
  • 48.85 (n)
rice
(Oryza sativa)
Liliopsida Os03g0246800 33
  • 50.89 (n)
Os.10527 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 84 (a)
ManyToMany
-- 34
  • 55 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec72 33
  • 47.09 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07658 33
  • 46.85 (n)
Species where no ortholog for ARFGEF1 was found in the sources mined by GeneCards:
  • 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
VAR_036155 A colorectal cancer sample
rs587777141 Pathogenic 67,190,656(+) GCTTA(-/A)CGGTG intron-variant, reference, frameshift-variant
rs773954226 Pathogenic 67,179,927(+) TATTG(A/G/T)TGAGT intron-variant, splice-donor-variant
rs1000002304 -- 67,328,389(+) TTTTA(A/C)ATCGA intron-variant
rs1000016633 -- 67,285,953(+) AAATA(C/T)GAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1291e199 CNV deletion 23128226
dgv7235n100 CNV gain 25217958
esv23466 CNV loss 19812545
esv2578987 CNV deletion 19546169
esv2664076 CNV deletion 23128226
esv2737121 CNV deletion 23290073
esv2752263 CNV gain 17911159
esv2752264 CNV gain 17911159
esv3415927 CNV insertion 20981092
esv3543610 CNV deletion 23714750
esv3576581 CNV gain 25503493
esv3617497 CNV loss 21293372
esv3617499 CNV loss 21293372
esv3617500 CNV loss 21293372
esv3891407 CNV gain 25118596
esv7037 CNV gain 19470904

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

Human Gene Mutation Database (HGMD)
ARFGEF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGEF1

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

Disorders for ARFGEF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARFGEF1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypertrophy of breast
  • breasts enlarged
- elite association - COSMIC cancer census association via MalaCards

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

No data available for 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 (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity. (PMID: 19332778) Puxeddu E … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 60
  3. Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin. (PMID: 18292223) Padilla PI … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 60
  4. 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 (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 60
  5. Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei. (PMID: 16467138) Citterio C … Vaughan M (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 60

Products for ARFGEF1 Gene

Sources for ARFGEF1 Gene

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