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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Periventricular nodular heterotopia 8 Pathogenic; Likely pathogenic rs2124857427, rs2124858360, rs2124857065, rs879036238, rs2124857424, rs2124857939, rs1558087795, rs1558087712, rs1571844539 RCV001845029
RCV001845030
RCV001845032
RCV001845033
RCV001845034
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARF1-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
PERIVENTRICULAR HETEROTOPIA, X-LINKED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Aneurysm Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23707487, 27517156
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 27517156
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18990689, 24196838, 26176330, 29614107 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 32558345 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Neuroendocrine Carcinoma BEFREE 25754106
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31232491
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31232491
★☆☆☆☆
Found in Text Mining only