Gene Gene information from NCBI Gene database.
Entrez ID 375
Gene name ARF GTPase 1
Gene symbol ARF1
Synonyms (NCBI Gene)
PVNH8
Chromosome 1
Chromosome location 1q42.13
Summary 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
miRNA miRNA information provided by mirtarbase database.
914
miRTarBase ID miRNA Experiments Reference
MIRT049435 hsa-miR-92a-3p CLASH 23622248
MIRT047891 hsa-miR-30c-5p CLASH 23622248
MIRT047891 hsa-miR-30c-5p CLASH 23622248
MIRT046160 hsa-miR-30b-5p CLASH 23622248
MIRT043175 hsa-miR-324-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ZBTB2 Repression 19380588
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0002090 Process Regulation of receptor internalization ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103180 652 ENSG00000143761
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P84077
Protein name ADP-ribosylation factor 1 (EC 3.6.5.2)
Protein function Small GTPase involved in protein trafficking between different compartments (PubMed:8253837). Modulates vesicle budding and uncoating within the Golgi complex (PubMed:8253837). In its GTP-bound form, triggers the recruitment of coatomer proteins
PDB 1HUR , 1RE0 , 1U81 , 3O47 , 4HMY , 6CM9 , 6CRI , 6D83 , 6D84 , 6DFF , 6FAE , 7DN8 , 7DN9 , 7MGE , 7R4H , 7UX3 , 8D4C , 8D4D , 8D4E , 8D4F , 8D4G , 8D9R , 8D9S , 8D9U , 8D9W , 8SDW , 9C58 , 9C59 , 9C5A , 9C5B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00025 Arf 3 177 ADP-ribosylation factor family Domain
Sequence
Sequence length 181
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phospholipase D signaling pathway
Endocytosis
Vibrio cholerae infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Legionellosis
  Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Nef Mediated CD4 Down-regulation
trans-Golgi Network Vesicle Budding
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Intra-Golgi traffic
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Periventricular nodular heterotopia 8 Pathogenic; Likely pathogenic rs2124857427, rs2124858360, rs2124857065, rs879036238, rs2124857424, rs2124857939, rs1558087795, rs1558087712, rs1571844539 RCV001845029
RCV001845030
RCV001845032
RCV001845033
RCV001845034
RCV001845036
RCV000721169
RCV000721170
RCV000721171
RCV000851181
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARF1-related disorder Likely benign; Benign rs143463838, rs61737797, rs143714855, rs147354087 RCV003936738
RCV003914482
RCV003924271
RCV003926999
Charcot-Marie-Tooth disease Uncertain significance rs1571845049 RCV000789499
RCV000789500
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32616892
Breast Neoplasms Associate 18990689, 24196838, 26176330, 29614107
Carcinoma Ovarian Epithelial Associate 32558345
Developmental Disabilities Associate 37185208
Diabetes Mellitus Associate 36790478
Epilepsy Associate 40689678
Genetic Diseases Inborn Associate 37185208
Hearing Disorders Associate 37185208
Hyperprolactinemia Associate 25754106
Hypoxia Brain Associate 22962618