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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]
ARFGEF1 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with ARFGEF1 include Joubert Syndrome 21 and Generalized Epilepsy With Febrile Seizures Plus, Type 6. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARFGEF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,IDA | 15644318 |
GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005096 | NOT GTPase activator activity | IDA | 15644318 |
GO:0005515 | protein binding | IPI | 10716990 |
GO:0017022 | myosin binding | IPI | 15644318 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytosis |
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:0030837 | negative regulation of actin filament polymerization | IMP | 22084092 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARFGEF1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARFGEF1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARFGEF1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARFGEF1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARFGEF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arfgef1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arfgef1 30 |
|
||
Chicken (Gallus gallus) |
Aves | ARFGEF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARFGEF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arfgef1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arfgef1 30 31 |
|
OneToOne | |
wufj64h08 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008906 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | sec71 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | agef-1 30 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEC7 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D17358g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL147C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G60860 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0246800 30 |
|
||
Os.10527 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sec72 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07658 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
672886 | Benign: not provided | 67,195,195(-) | C/G | INTRON_VARIANT | |
679630 | Likely Benign: not provided | 67,193,427(-) | G/A | INTRON_VARIANT | |
689630 | Uncertain Significance: not provided | 67,253,499(-) | T/C | MISSENSE_VARIANT | |
754437 | Benign: not provided | 67,301,329(-) | T/C | SYNONYMOUS_VARIANT | |
757409 | Benign: not provided | 67,218,112(-) | G/A | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
joubert syndrome 21 |
|
|
generalized epilepsy with febrile seizures plus, type 6 |
|
|
generalized epilepsy with febrile seizures plus, type 4 |
|
|
congenital ptosis |
|
|
periventricular nodular heterotopia |
|
|