Human Gene ARFGEF1 (ENST00000262215.8_7) from GENCODE V47lift37
Description: 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 competitive RhoA binding. The function in the nucleus remains to be determined. (from UniProt Q9Y6D6) Gencode Transcript: ENST00000262215.8_7 Gencode Gene: ENSG00000066777.9_14 Transcript (Including UTRs) Position: hg19 chr8:68,109,893-68,256,016 Size: 146,124 Total Exon Count: 39 Strand: - Coding Region Position: hg19 chr8:68,111,169-68,255,522 Size: 144,354 Coding Exon Count: 39
ID:BIG1_HUMAN DESCRIPTION: RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 1; Short=Brefeldin A-inhibited GEP 1; AltName: Full=ADP-ribosylation factor guanine nucleotide-exchange factor 1; AltName: Full=p200 ARF guanine nucleotide exchange factor; AltName: Full=p200 ARF-GEP1; 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. ENZYME REGULATION: Inhibited by brefeldin A. SUBUNIT: 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. INTERACTION: Q9Y6D5:ARFGEF2; NbExp=3; IntAct=EBI-1044254, EBI-2837511; Q7Z4S6:KIF21A; NbExp=3; IntAct=EBI-1044254, EBI-2691397; Q7Z4S6-2:KIF21A; NbExp=4; IntAct=EBI-1044254, EBI-6251716; Q99417:MYCBP; NbExp=3; IntAct=EBI-1044254, EBI-716185; Q13459-2:MYO9B; NbExp=2; IntAct=EBI-1044254, EBI-6251250; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network (By similarity). Nucleus. Nucleus, nucleolus. Nucleus matrix. Membrane. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment. TISSUE SPECIFICITY: Expressed in placenta, lung, heart, brain, kidney and pancreas. PTM: Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1. SIMILARITY: Contains 1 SEC7 domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6D6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005085 guanyl-nucleotide exchange factor activity GO:0005086 ARF guanyl-nucleotide exchange factor activity GO:0005515 protein binding GO:0017022 myosin binding GO:0034237 protein kinase A regulatory subunit binding GO:0005096 GTPase activator activity
Biological Process: GO:0006887 exocytosis GO:0007030 Golgi organization GO:0010256 endomembrane system organization GO:0015031 protein transport GO:0030837 negative regulation of actin filament polymerization GO:0031175 neuron projection development GO:0032012 regulation of ARF protein signal transduction GO:0034260 negative regulation of GTPase activity GO:0051897 positive regulation of protein kinase B signaling GO:0090284 positive regulation of protein glycosylation in Golgi GO:0090303 positive regulation of wound healing GO:2000114 regulation of establishment of cell polarity
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
