Gene
arl6
- ID
- ZDB-GENE-041219-2
- Name
- ARF like GTPase 6
- Symbol
- arl6 Nomenclature History
- Previous Names
-
- bbs3 (1)
- zgc:101762
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable GTP binding activity. Involved in cilium assembly; determination of left/right symmetry; and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; pectoral fin development; and regulation of Notch signaling pathway. Predicted to be located in ciliary membrane and cytoskeleton. Predicted to be active in axoneme. Is expressed in adipose tissue; brain; eye; heart; and retina. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; and retinitis pigmentosa 55. Orthologous to human ARL6 (ADP ribosylation factor like GTPase 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101762 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la021136Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-arl6 | N/A | (3) |
| MO2-arl6 | N/A | Tayeh et al., 2008 |
| MO3-arl6 | N/A | Pretorius et al., 2010 |
| MO4-arl6 | N/A | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 1 | Alliance | {Bardet-Biedl syndrome 1, modifier of} | 209900 |
| Bardet-Biedl syndrome 3 | Alliance | Bardet-Biedl syndrome 3 | 600151 |
| retinitis pigmentosa 55 | Alliance | Retinitis pigmentosa 55 | 613575 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005225 | Small GTP-binding domain |
| Family | IPR006689 | Small GTPase superfamily, ARF/SAR type |
| Family | IPR024156 | Small GTPase superfamily, ARF type |
| Family | IPR041839 | ADP-ribosylation factor-like protein 6 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
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Domain Details Per Protein
| Protein | Length | ADP-ribosylation factor-like protein 6 | P-loop containing nucleoside triphosphate hydrolase | Small GTPase superfamily, ARF/SAR type | Small GTPase superfamily, ARF type | Small GTP-binding domain |
|---|---|---|---|---|---|---|
|
UniProtKB:B2GRI2
|
186 | |||||
|
UniProtKB:A0A8M9PSD0
|
194 | |||||
|
UniProtKB:Q5M9P8
|
186 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-24H22 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101762 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192312 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001008733 (1) | 1188 nt | ||
| Genomic | GenBank:BX901972 (1) | 212798 nt | ||
| Polypeptide | UniProtKB:A0A8M9PSD0 (1) | 194 aa |
- Ciampi, L., Mantica, F., López-Blanch, L., Permanyer, J., Rodriguez-Marín, C., Zang, J., Cianferoni, D., Jiménez-Delgado, S., Bonnal, S., Miravet-Verde, S., Ruprecht, V., Neuhauss, S.C.F., Banfi, S., Carrella, S., Serrano, L., Head, S.A., Irimia, M. (2022) Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision. Proceedings of the National Academy of Sciences of the United States of America. 119:e2117090119
- Heigwer, J., Kutzner, J., Haeussler, M., Burkhalter, M.D., Draebing, T., Juergensen, L., Katus, H.A., Philipp, M., Westhoff, J.H., Hassel, D. (2020) miR-103/107 regulates left-right asymmetry in zebrafish by modulating Kupffer's vesicle development and ciliogenesis. Biochemical and Biophysical Research Communications. 527(2):432-439
- Shi, W., Shao, T., Li, J.Y., Fan, D.D., Lin, A.F., Xiang, L.X., Shao, J.Z. (2019) BTLA-HVEM Checkpoint Axis Regulates Hepatic Homeostasis and Inflammation in a ConA-Induced Hepatitis Model in Zebrafish. Journal of immunology (Baltimore, Md. : 1950). 203(9):2425-2442
- Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
- Leitch, C.C., Lodh, S., Prieto-Echagüe, V., Badano, J.L., Zaghloul, N.A. (2014) Basal body proteins regulate Notch signaling via endosomal trafficking. Journal of Cell Science. 127(Pt 11):2407-19
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Pretorius, P.R., Aldahmesh, M.A., Alkuraya, F.S., Sheffield, V.C., and Slusarski, D.C. (2011) Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Human molecular genetics. 20(8):1625-1632
- Pretorius, P.R., Baye, L.M., Nishimura, D.Y., Searby, C.C., Bugge, K., Yang, B., Mullins, R.F., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2010) Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genetics. 6(3):e1000884
- Zaghloul, N.A., Liu, Y., Gerdes, J.M., Gascue, C., Oh, E.C., Leitch, C.C., Bromberg, Y., Binkley, J., Leibel, R.L., Sidow, A., Badano, J.L., and Katsanis, N. (2010) Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 107(23):10602-10607
- Tayeh, M.K., Yen, H.J., Beck, J.S., Searby, C.C., Westfall, T.A., Griesbach, H., Sheffield, V.C., and Slusarski, D.C. (2008) Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Human molecular genetics. 17(13):1956-1967
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