ARL1 ARF like GTPase 1
Gene ID: 400, updated on 3-Nov-2024Gene type: protein coding
Also known as: ARFL1
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- Go to complete Gene record for ARL1
- Go to Variation Viewer for ARL1 variants
Summary
The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available |
Genomic context
- Location:
- 12q23.2
- Sequence:
- Chromosome: 12; NC_000012.12 (101393116..101407820, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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