ARFGEF1
entrez
10565
canonical
uniprot
Q9Y6D6
canonical
ensembl
ENSG00000066777
resolver
ensp
ENSP00000262215
resolver
ensp
ENSP00000428429
resolver
ensp
ENSP00000552698
resolver
ensp
ENSP00000552699
resolver
ensp
ENSP00000552700
resolver
ensp
ENSP00000784261
resolver
enst
ENST00000262215
resolver
genesymbol
ARFGEF1
resolver
genesymbol_syn
ARFGEP1
resolver
genesymbol_syn
BIG1
resolver
hgnc
HGNC:15772
resolver
uniprot
Q9NV46
resolver
uniprot
Q9UFV2
resolver
uniprot
Q9UNL0
resolver
uniprot_entry
BIG1_HUMAN
resolver
uniprot_sec
Q9NV46
resolver
uniprot_sec
Q9UFV2
resolver
uniprot_sec
Q9UNL0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by brefeldin A.
uniprot
proteins
amino_acid_sequence
MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKAGSSTLPPVKSKTNFIEADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDSTTPGKKLIDRIIETICGCFQGPQTDEGVQLQIIKALLTAVTSQHIEIHEGTVLQAVRTCYNIYLASKNLINQTTAKATLTQMLNVIFARMENQALQEAKQMEKERHRQHHHLLQSPVSHHEPESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGTIEDGSDSENIQANGIPGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQKDAFLVFRSLCKLSMKPLSDGPPDPKSHELRSKILSLQLLLSILQNAGPIFRTNEMFINAIKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEVFFKEIFLYILETSTSSFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRGSQELGMSNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETINRYGSLNSLESTSSSGIGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYLQEQGMLGTTPEDIAQFLHQEERLDSTQVGEFLGDNDKFNKEVMYAYVDQHDFSGKDFVSALRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAYVLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKISMKETKELTIPTKSSKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAFSVGLQDCDDTEVASLCLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKPRYISGTVRGREGSLTGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAVDRIFTGSTRLDGNAIVDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCIAQMVNSQAANIRSGWKNIFSVFHLAASDQDESIVELAFQTTGHIVTLVFEKHFPATIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRHCAKYVSDRPQAFKEYTSDDMNVAPEDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQDLFRIVFRIFDNMKLPEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSGTNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHALLTWRPNSGETAPPPPSPVSEKPLDTISQKSVDIHDSIQPRSVDNRPQAPLVSASAVNEEVSKIKSTAKFPEQKLFAALLIKCVVQLELIQTIDNIVFFPATSKKEDAENLAAAQRDAVDFDVRVDTQDQGMYRFLTSQQLFKLLDCLLESHRFAKAFNSNNEQRTALWKAGFKGKSKPNLLKQETSSLACGLRILFRMYMDESRVSAWEEVQQRLLNVCSEALSYFLTLTSESHREAWTNLLLLFLTKVLKISDNRFKAHASFYYPLLCEIMQFDLIPELRAVLRRFFLRIGVVFQISQPPEQELGINKQ
uniprot
proteins
disease_involvement
DISEASE: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (DEDISB) [MIM:619964]: An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging. {ECO:0000269|PubMed:31678406, ECO:0000269|PubMed:34113008}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 maturation 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. {ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15644318, ECO:0000269|PubMed:17227842, ECO:0000269|PubMed:20360857, ECO:0000269|PubMed:22084092}.
uniprot
proteins
mass_dalton
208767
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="K->D: Loss of interaction with ARL1."; /evidence="ECO:0000269|PubMed:27373159"; MUTAGEN 109; /note="Y->K: LLoss of interaction with ARL1."; /evidence="ECO:0000269|PubMed:27373159"; MUTAGEN 156; /note="L->D: Loss of interaction with ARL1."; /evidence="ECO:0000269|PubMed:27373159"; MUTAGEN 200; /note="Q->E: Loss of interaction with ARL1."; /evidence="ECO:0000269|PubMed:27373159"; MUTAGEN 221; /note="E->K: No effect on self-association."; /evidence="ECO:0000269|PubMed:17640864"; MUTAGEN 712..714; /note="KPK->AAA: Inhibits nuclear localization."; /evidence="ECO:0000269|PubMed:16467138"; MUTAGEN 883; /note="S->A: Abolishes cAMP-induced nuclear localization."; /evidence="ECO:0000269|PubMed:16467138"; MUTAGEN 883; /note="S->D: No effect on cAMP-induced nuclear localization."; /evidence="ECO:0000269|PubMed:16467138
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1. {ECO:0000269|PubMed:17360629}.
uniprot
proteins
pubmed
10212200
uniprot
proteins
pubmed
10393931
uniprot
proteins
pubmed
10716990
uniprot
proteins
pubmed
12571360
uniprot
proteins
pubmed
12606707
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14973189
uniprot
proteins
pubmed
15644318
uniprot
proteins
pubmed
16467138
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17227842
uniprot
proteins
pubmed
17360629
uniprot
proteins
pubmed
17640864
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18292223
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19332778
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19651892
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20360857
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22084092
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23572552
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27373159
uniprot
proteins
pubmed
27436755
uniprot
proteins
pubmed
31678406
uniprot
proteins
pubmed
34113008
uniprot
proteins
sequence_length
1849
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus {ECO:0000269|PubMed:12571360}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:27373159, ECO:0000269|PubMed:27436755}. Nucleus {ECO:0000269|PubMed:14973189}. Nucleus, nucleolus {ECO:0000269|PubMed:14973189}. Nucleus matrix {ECO:0000269|PubMed:14973189}. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.
uniprot
proteins