• Gene id: 375

Gene Summary

• Gene Symbol: ARF1   Gene   UCSC   Ensembl
• Aliases: PVNH8
• Gene name: ADP ribosylation factor 1
• Alternate names: ADP-ribosylation factor 1,
• Gene location: 1q42.13 (52803826: 52791370)     Exons: 7     NC_000006.12
• Gene summary(Entrez): ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as
• OMIM: 103180

SNPs

rs7811653

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.46362671C>A
NC_000007.13   g.46402269C>A|SEQ=[C/A]

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: P84077  
  • Name: ADP ribosylation factor 1
  • Length: 181  
  • Mass: 20697
• Sequence:

  MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIR
  PLWRHYFQNTQGLIFVVDSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRH
  RNWYIQATCATSGDGLYEGLDWLSNQLRNQK

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • PDB: 1HUR 1RE0 1U81 3O47 4HMY 6CM9 6CRI 6D83 6D84 6DFF 6FAE
  • PDBsum: 1HUR 1RE0 1U81 3O47 4HMY 6CM9 6CRI 6D83 6D84 6DFF 6FAE
  • DIP: 31597
  • STRING: ENSP00000440005
• Other Databases: GeneCards:  ARF1  Malacards:  ARF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0031252	cell leading edge	IDA	cellular component
GO:0097061	dendritic spine organization	ISS	biological process
GO:0034315	regulation of Arp2/3 complex-mediated actin nucleation	ISS	biological process
GO:0060292	long-term synaptic depression	ISS	biological process
GO:0002090	regulation of receptor internalization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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:1902953	positive regulation of ER to Golgi vesicle-mediated transport	IEA	biological process
GO:1902824	positive regulation of late endosome to lysosome transport	IEA	biological process
GO:0070142	synaptic vesicle budding	IEA	biological process
GO:0060292	long-term synaptic depression	IEA	biological process
GO:0055108	Golgi to transport vesicle transport	IEA	biological process
GO:0050714	positive regulation of protein secretion	IEA	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IEA	biological process
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0002090	regulation of receptor internalization	IEA	biological process
GO:1990386	mitotic cleavage furrow ingression	IEA	biological process
GO:0030017	sarcomere	IEA	cellular component
GO:1990583	phospholipase D activator activity	IEA	molecular function
GO:1903725	regulation of phospholipid metabolic process	IEA	biological process
GO:1902307	positive regulation of sodium ion transmembrane transport	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0097212	lysosomal membrane organization	IEA	biological process
GO:0097061	dendritic spine organization	IEA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0045807	positive regulation of endocytosis	IEA	biological process
GO:0034315	regulation of Arp2/3 complex-mediated actin nucleation	IEA	biological process
GO:0019003	GDP binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006878	cellular copper ion homeostasis	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0098586	cellular response to virus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04072	Phospholipase D signaling pathway
hsa05110	Vibrio cholerae infection
hsa05134	Legionellosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)