Gene Gene information from NCBI Gene database.
Entrez ID 10565
Gene name ARF guanine nucleotide exchange factor 1
Gene symbol ARFGEF1
Synonyms (NCBI Gene)
ARFGEP1BIG1DEDISBP200
Chromosome 8
Chromosome location 8q13.2
Summary 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 b
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT024514 hsa-miR-215-5p Microarray 19074876
MIRT026910 hsa-miR-192-5p Microarray 19074876
MIRT047646 hsa-miR-10a-5p CLASH 23622248
MIRT047437 hsa-miR-10b-5p CLASH 23622248
MIRT038638 hsa-miR-125a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 10716990
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 15644318
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005096 Function GTPase activator activity IDA 15644318
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604141 15772 ENSG00000066777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6D6
Protein name Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (ADP-ribosylation factor guanine nucleotide-exchange factor 1) (p200 ARF guanine nucleotide exchange factor) (p200 ARF-GEP1)
Protein 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
PDB 3LTL , 5EE5 , 5J5C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16213 DCB 28 213 Dimerisation and cyclophilin-binding domain of Mon2 Family
PF12783 Sec7_N 419 578 Guanine nucleotide exchange factor in Golgi transport N-terminal Domain
PF01369 Sec7 698 882 Sec7 domain Domain
PF09324 DUF1981 1220 1303 Domain of unknown function (DUF1981) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta, lung, heart, brain, kidney and pancreas.
Sequence
MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKA
GSSTLPPVKSKTNFIEADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDST
TPGKKLIDRIIETICGCFQGPQTDEGVQLQIIKALLTAVTSQHIEIHEGTVLQAVRTCYN
IYLASKNLINQTTAKATLTQMLNVIFARMENQA
LQEAKQMEKERHRQHHHLLQSPVSHHE
PESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQ
ATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGT
IEDGSDSENIQANGIPGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQ
KDAFLVFRSLCKLSMKPLSDGPPDPKSHELRSKILSLQLLLSILQNAGPIFRTNEMFINA
IKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEVFFKEIFLYILETSTS
SFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANI
FERLVNDLSKIAQGRGSQELGM
SNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETIN
RYGSLNSLESTSSSGIGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYL
QEQGMLGTTPEDIAQFLHQEERLDSTQVGEFLGDNDKFNKEVMYAYVDQHDFSGKDFVSA
LRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAYVLAYSIIMLTTDLHS
PQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKI
SMKETKELTIPTKSSKQN
VASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAF
SVGLQDCDDTEVASLCLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQ
KNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKPRYISGTVRGREGSL
TGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAVDRIFTGSTRLDGNAI
VDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGC
NPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCI
AQMVNSQAANIRSGWKNIFSVFHLAASDQDESIVELAFQTTGH
IVTLVFEKHFPATIDSF
QDAVKCLSEFACNAAFPDTSMEAIRLIRHCAKYVSDRPQAFKEYTSDDMNVAPEDRVWVR
GWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQDLFRIVFRIFDNMKL
PEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSG
TNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHALLTWRPNSGETAPPPPSPVSEK
PLDTISQKSVDIHDSIQPRSVDNRPQAPLVSASAVNEEVSKIKSTAKFPEQKLFAALLIK
CVVQLELIQTIDNIVFFPATSKKEDAENLAAAQRDAVDFDVRVDTQDQGMYRFLTSQQLF
KLLDCLLESHRFAKAFNSNNEQRTALWKAGFKGKSKPNLLKQETSSLACGLRILFRMYMD
ESRVSAWEEVQQRLLNVCSEALSYFLTLTSESHREAWTNLLLLFLTKVLKISDNRFKAHA
SFYYPLLCEIMQFDLIPELRAVLRRFFLRIGVVFQISQPPEQELGINKQ
Sequence length 1849
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
113
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARFGEF1-related disorder Pathogenic; Likely pathogenic rs749942462, rs2491365757 RCV004753677
RCV003406103
Atypical behavior Pathogenic; Likely pathogenic rs1838287933, rs146133956, rs1308211020, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 RCV001290722
RCV001290730
RCV001290729
RCV001290725
RCV001290726
RCV001290721
RCV001290724
RCV001290728
RCV001290727
Delayed ability to walk Likely pathogenic rs2129577314 RCV002256955
Delayed speech and language development Pathogenic; Likely pathogenic rs1838287933, rs146133956, rs1308211020, rs1839416809, rs1839888192, rs1563869264, rs1840520188, rs1840585492, rs1804841321, rs1805830692 RCV001290722
RCV001290730
RCV001290729
RCV001290723
RCV001290725
RCV001290726
RCV001290721
RCV001290724
RCV001290728
RCV001290727
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Likely benign rs200901179, rs142342517 RCV005928689
RCV005939476
Cervical cancer Likely benign rs144593475 RCV005936795
Colorectal cancer Likely benign rs142342517 RCV005939478
Developmental delay, impaired speech, and behavioral abnormalities Uncertain significance rs2491689432 RCV005645459
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21871176
Breast Neoplasms Inhibit 26474971
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 34113008
Developmental Disabilities Associate 34113008
Epilepsy Associate 34113008
Intellectual Disability Associate 34113008
Mental Disorders Associate 34113008
Neoplasms Associate 21871176
Neoplasms Inhibit 26474971
Uterine Cervical Neoplasms Associate 35048795