ARF1
ARF GTPase 1
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 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]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12029076 | 1:228,272,687 | G/C | intron variant | — |
| rs2124857065 | 1:228,284,870 | C/T | — | likely pathogenic |
| rs879036238 | 1:228,284,918 | T/C | — | pathogenic |
| rs1571844539 | 1:228,284,958 | C/T | — | likely pathogenic |
| rs2124857424 | 1:228,285,045 | T/C | — | pathogenic |
| rs2124857427 | 1:228,285,047 | C/A | — | pathogenic |
| rs2032786415 | 1:228,285,090 | T/A | — | uncertain significance |
| rs753396348 | 1:228,285,095 | C/G | — | uncertain significance |
| rs2464587956 | 1:228,285,096 | G/A | — | pathogenic |
| rs2464588113 | 1:228,285,132 | C/T | — | uncertain significance |
| rs2124857932 | 1:228,285,310 | A/G | — | conflicting classifications of pathogenicity |
| rs2464589074 | 1:228,285,315 | A/C | — | uncertain significance |
| rs1571845049 | 1:228,285,325 | A/C | — | uncertain significance |
| rs2124857939 | 1:228,285,327 | C/T | — | likely pathogenic |
| rs1558087712 | 1:228,285,328 | G/A | — | pathogenic |
| rs147354087 | 1:228,285,332 | G/A | — | benign |
| rs1558087795 | 1:228,285,411 | A/G | — | pathogenic |
| rs2124858360 | 1:228,285,560 | C/G | — | pathogenic |
| rs143463838 | 1:228,285,579 | C/T | — | likely benign |
| rs143714855 | 1:228,285,609 | A/G | — | likely benign |
| rs61737797 | 1:228,285,645 | C/T | — | likely benign |
| rs2124858573 | 1:228,285,677 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.