ARF1 Chromosome 1
ARF GTPase 1
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What This Gene Does
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 activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ARF GTPase family|Receptor ligands|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000143761
Associated Conditions (1)
Periventricular nodular heterotopia 8
Key Variants
RS2124857932
Conflicting classifications of pathogenicity
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2124858360
Conflicting classifications of pathogenicity
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS1571844539
Likely pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2124857065
Likely pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2124857939
Likely pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS1558087795
Pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2124857424
Pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2124857427
Pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS2464587956
Pathogenic
Health Risk
RS879036238
Pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
RS1558087712
Pathogenic/Likely pathogenic
Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2124857932 | Health Risk | Conflicting classifications of pathogenicity | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2124858360 | Health Risk | Conflicting classifications of pathogenicity | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS1571844539 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2124857065 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2124857939 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS1558087795 | Health Risk | Pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2124857424 | Health Risk | Pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2124857427 | Health Risk | Pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS2464587956 | Health Risk | Pathogenic | — |
| RS879036238 | Health Risk | Pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |
| RS1558087712 | Health Risk | Pathogenic/Likely pathogenic | Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8 |