ARL6
| ADP-ribosylation factor-like protein 6 | ||
|---|---|---|
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| Belt model from ARL6 to PDB 2H57 | ||
| other names |
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| Properties of human protein | ||
| Mass / length primary structure | 21,097 Daltons / 186 amino acids (Isoform1)
21,960 Daltons / 193 amino acids (Isoform2) |
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| Isoforms | 2 | |
| Identifier | ||
| Gene names | ARL6; BBS3; RP55 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Tissue animals | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 84100 | 56297 |
| Ensemble | ENSG00000113966 | ENSMUSG00000022722 |
| UniProt | Q9H0F7 | O88848 |
| Refseq (mRNA) | NM_001278293 | NM_019665 |
| Refseq (protein) | NP_001265222.1 | NP_062639.3 |
| Gene locus | Chr 3: 97.76 - 97.8 Mb | Chr 16: 59.61 - 59.64 Mb |
| PubMed search | 84100 |
56297
|
The ARL6 - gene encoding the ARL6- protein (ADP-ribosylation factor-like protein 6 or Bardet-Biedl syndrome 3 protein) in the human body.
General
The ARL6 gene is located on chromosome 3 in the human genome at the location 3q11.2. It contains 186 amino acids with 9 exons and an 8-C terminal. Alternative splices result in two differently coded variations of this gene for the same protein in ganglion cells , nerve fibers and retinal photoreceptors . The alternative gene BB3L contains 193 amino acids and another exon at the 3 "end. Orthologous ARL6 genes are found in numerous organisms, from invertebrates and mammals to yeast and plants. Mutations in this gene are often associated with BBS syndrome or retinopathy pigmentosa, which in some cases is due to a missense mutation of this gene.
function
The protein belongs to a subgroup of the ARF family of GTP-binding proteins . These regulate protein transport in the cells and work together with other, smaller GTP-binding proteins via very specific bonds. In intraflagellar transport , it guides the BBSome complex from the basal body to the cell surface and thus enables anterograde transport. Here it docks to the protein BBS1. In combination with Isoform 2, it ensures the function of the retina.
meaning
A disorder leads to ciliopathies such as Laurence-Moon-Biedl-Bardet syndrome .
Individual evidence
- ↑ a b genenames.org: Symbol Report: ARL6
- ↑ a b c d ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b c ncbi.nlm.nih.gov: ARL6 ADP ribosylation factor like GTPase 6 Homo sapiens (human)
- ↑ ubm.opus.hbz-nrw.de: Intraflagellar transport in the developing and mature vertebrate retina ( Memento of the original from January 14, 2016 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
