Gene
sipa1l3
- ID
- ZDB-GENE-050420-109
- Name
- signal-induced proliferation-associated 1 like 3
- Symbol
- sipa1l3 Nomenclature History
- Previous Names
-
- si:dkey-149j18.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within lens development in camera-type eye. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in lens and solid lens vesicle. Used to study cataract. Human ortholog(s) of this gene implicated in cataract 45. Orthologous to human SIPA1L3 (signal induced proliferation associated 1 like 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Greenlees et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Greenlees et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa15094 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23346 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23347 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36697 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43150 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43151 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45646 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-sipa1l3 | N/A | Greenlees et al., 2015 |
| MO2-sipa1l3 | N/A | Greenlees et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cataract 45 | Alliance | ?Cataract 45 | 616851 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cataract | WT + MO2-sipa1l3 | standard conditions | Greenlees et al., 2015 |
| cataract | WT + MO1-sipa1l3 | standard conditions | Greenlees et al., 2015 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | PDZ domain | PDZ superfamily | Rap1/Ran GTPase-activating | Rap/Ran-GAP domain | Rap/Ran-GAP superfamily | Signal-induced proliferation-associated 1-like protein, C-terminal |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BKY4 | InterPro | 1712 | ||||||
| UniProtKB:A0A8M2BKX6 | InterPro | 1718 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sipa1l3-201
(1)
|
Ensembl | 5,035 nt | ||
| mRNA |
sipa1l3-202
(1)
|
Ensembl | 5,782 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-sipa1l3 | polyclonal | Rabbit |
|
Abcam plc
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-52H13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-149J18 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005173672 (1) | 5817 nt | ||
| Genomic | GenBank:BX548069 (1) | 142514 nt | ||
| Polypeptide | UniProtKB:A0A8M2BKX6 (1) | 1718 aa |
- Kubra, K., Gaddu, G.K., Liongue, C., Heidary, S., Ward, A.C., Dhillon, A.S., Basheer, F. (2022) Phylogenetic and Expression Analysis of Fos Transcription Factors in Zebrafish. International Journal of Molecular Sciences. 23(17)
- Garcia-Concejo, A., Larhammar, D. (2021) Protein kinase C family evolution in jawed vertebrates. Developmental Biology. 479:77-90
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S.K., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Gillespie, R., Loebel, D.A., Clayton-Smith, J., Lloyd, I.C., Grigg, J.R., Tam, P.P., Yap, A.S., Becker, T.S., Black, G.C., Semina, E., Jamieson, R.V. (2015) Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human molecular genetics. 24(20):5789-804
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