• Gene id: 10565

Gene Summary

• Gene Symbol: ARFGEF1   Gene   UCSC   Ensembl
• Aliases: ARFGEP1, BIG1, P200
• Gene name: ADP ribosylation factor guanine nucleotide exchange factor 1
• Alternate names: brefeldin A-inhibited guanine nucleotide-exchange protein 1, ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited), p200 ARF guanine nucleotide exchange factor,
• Gene location: 8q13.2 (102742707: 102816266)     Exons: 6     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 604141

Protein Summary

• Protein general information: Q9Y6D6  
  • 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)
  • Length: 1849  
  • Mass: 208767
  • Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas.
• Sequence:

  MYEGKKTKNMFLTRALEKILADKEVKKAHHSQLRKACEVALEEIKAETEKQSPPHGEAKAGSSTLPPVKSKTNFI
  EADKYFLPFELACQSKCPRIVSTSLDCLQKLIAYGHLTGNAPDSTTPGKKLIDRIIETICGCFQGPQTDEGVQLQ
  IIKALLTAVTSQHIEIHEGTVLQAVRTCYNIYLASKNLINQTTAKATLTQMLNVIFARMENQALQEAKQMEKERH
  RQHHHLLQSPVSHHEPESPQLRYLPPQTVDHISQEHEGDLDLHTNDVDKSLQDDTEPENGSDISSAENEQTEADQ
  ATAAETLSKNEVLYDGENHDCEEKPQDIVQNIVEEMVNIVVGDMGEGTTINASADGNIGTIEDGSDSENIQANGI
  PGTPISVAYTPSLPDDRLSVSSNDTQESGNSSGPSPGAKFSHILQKDAFLVFRSLCKLSMKPLSDGPPDPKSHEL
  RSKILSLQLLLSILQNAGPIFRTNEMFINAIKQYLCVALSKNGVSSVPEVFELSLSIFLTLLSNFKTHLKMQIEV
  FFKEIFLYILETSTSSFDHKWMVIQTLTRICADAQSVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRGSQELGM
  SNVQELSLRKKGLECLVSILKCMVEWSKDQYVNPNSQTTLGQEKPSEQEMSEIKHPETINRYGSLNSLESTSSSG
  IGSYSTQMSGTDNPEQFEVLKQQKEIIEQGIDLFNKKPKRGIQYLQEQGMLGTTPEDIAQFLHQEERLDSTQVGE
  FLGDNDKFNKEVMYAYVDQHDFSGKDFVSALRMFLEGFRLPGEAQKIDRLMEKFAARYLECNQGQTLFASADTAY
  VLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSAIYNEIAGKKISMKETKELTIPTKSSKQN
  VASEKQRRLLYNLEMEQMAKTAKALMEAVSHVQAPFTSATHLEHVRPMFKLAWTPFLAAFSVGLQDCDDTEVASL
  CLEGIRCAIRIACIFSIQLERDAYVQALARFTLLTVSSGITEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKC
  ISQLELAQLIGTGVKPRYISGTVRGREGSLTGTKDQAPDEFVGLGLVGGNVDWKQIASIQESIGETSSQSVVVAV
  DRIFTGSTRLDGNAIVDFVRWLCAVSMDELLSTTHPRMFSLQKIVEISYYNMGRIRLQWSRIWEVIGDHFNKVGC
  NPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKRNRSPTIRDMVVRCIAQMVNSQAANIRSGW
  KNIFSVFHLAASDQDESIVELAFQTTGHIVTLVFEKHFPATIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRHC
  AKYVSDRPQAFKEYTSDDMNVAPEDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKTYGHTYEKHWWQ
  DLFRIVFRIFDNMKLPEQQTEKAEWMTTTCNHALYAICDVFTQYLEVLSDVLLDDIFAQLYWCVQQDNEQLARSG
  TNCLENVVILNGEKFTLEIWDKTCNCTLDIFKTTIPHALLTWRPNSGETAPPPPSPVSEKPLDTISQKSVDIHDS
  IQPRSVDNRPQAPLVSASAVNEEVSKIKSTAKFPEQKLFAALLIKCVVQLELIQTIDNIVFFPATSKKEDAENLA
  AAQRDAVDFDVRVDTQDQGMYRFLTSQQLFKLLDCLLESHRFAKAFNSNNEQRTALWKAGFKGKSKPNLLKQETS
  SLACGLRILFRMYMDESRVSAWEEVQQRLLNVCSEALSYFLTLTSESHREAWTNLLLLFLTKVLKISDNRFKAHA
  SFYYPLLCEIMQFDLIPELRAVLRRFFLRIGVVFQISQPPEQELGINKQ

• Structural information:
  • Protein Domains: (709..84-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189"-)
  • Interpro: IPR016024  IPR032629  IPR015403  IPR023394  IPR000904   IPR035999  IPR032691  
  • Prosite: PS50190
  • CDD: cd00171
  • PDB: 3LTL 5EE5 5J5C
  • PDBsum: 3LTL 5EE5 5J5C
  • DIP: 29748
  • STRING: ENSP00000262215
• Other Databases: GeneCards:  ARFGEF1  Malacards:  ARFGEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0034260	negative regulation of GTPase activity	IDA	biological process
GO:0034237	protein kinase A regulatory subunit binding	IDA	molecular function
GO:0030532	small nuclear ribonucleoprotein complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:2000114	regulation of establishment of cell polarity	IMP	biological process
GO:0090303	positive regulation of wound healing	IMP	biological process
GO:0030837	negative regulation of actin filament polymerization	IMP	biological process
GO:0005802	trans-Golgi network	ISS	cellular component
GO:0090284	positive regulation of protein glycosylation in Golgi	IMP	biological process
GO:0010256	endomembrane system organization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006887	exocytosis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005096	GTPase activator activity	IDA	NOT|molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017022	myosin binding	IPI	molecular function
GO:0017022	myosin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)