Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10565
Gene name Gene Name - the full gene name approved by the HGNC.
ARF guanine nucleotide exchange factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARFGEF1
Synonyms (NCBI Gene) Gene synonyms aliases
ARFGEP1, BIG1, DEDISB, P200
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEDISB
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q13.2
Summary Summary of gene provided in NCBI Entrez 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 b
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 10716990
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 15644318
GO:0005096 Function GTPase activator activity IDA 15644318
GO:0005515 Function Protein binding IPI 10716990, 15644318, 16417406, 16866877, 18292223, 19020088, 19332778, 19651892, 22084092, 23572552
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604141 15772 ENSG00000066777
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Joubert syndrome JOUBERT SYNDROME 21 rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129
View all (432 more)
26092869
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
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