Gene
rlim
- ID
- ZDB-GENE-120809-2
- Name
- ring finger protein, LIM domain interacting
- Symbol
- rlim Nomenclature History
- Previous Names
-
- rnf12 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within regulation of transforming growth factor beta receptor signaling pathway. Predicted to be active in nucleus. Is expressed in mesoderm. Human ortholog(s) of this gene implicated in Tonne-Kalscheuer syndrome. Orthologous to human RLIM (ring finger protein, LIM domain interacting).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhang et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa16516 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-rlim | Frints et al., 2018 | |
MO1-rlim | N/A | Zhang et al., 2012 |
MO2-rlim | N/A | Zhang et al., 2012 |
MO3-rlim | N/A | Frints et al., 2018 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Tonne-Kalscheuer syndrome | Alliance | Tonne-Kalscheuer syndrome | 300978 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | RING finger E3 ubiquitin-protein ligase | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
---|---|---|---|---|---|
UniProtKB:E7FH41 | InterPro | 638 |
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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 | CH211-67O16 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_009307767 (1) | 3365 nt | ||
Genomic | GenBank:CR383680 (2) | 71147 nt | ||
Polypeptide | UniProtKB:E7FH41 (1) | 638 aa |
- Comparative Orthology
- Alliance
- Huang, Y., Liu, S., Shan, M., Hagenaars, S.C., Mesker, W.E., Cohen, D., Wang, L., Zheng, Z., Devilee, P., Tollenaar, R.A.E.M., Li, Z., Song, Y., Zhang, L., Li, D., Ten Dijke, P. (2022) RNF12 is regulated by AKT phosphorylation and promotes TGF-β driven breast cancer metastasis. Cell Death & Disease. 13:44
- Frints, S.G.M., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., E Hickey, S., Kammoun, M., Gripp, K.W., Bauer, C., Schroeder, C., Toutain, A., Mihalic Mosher, T., Kelly, B.J., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D.C., van Roozendaal, K.E.P., Hu, H., Haas, S.A., Ropers, H.H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J.P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V.M. (2018) Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular psychiatry. 24(11):1748-1768
- 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
- Zhang, L., Huang, H., Zhou, F., Schimmel, J., Pardo, C.G., Zhang, T., Barakat, T.S., Sheppard, K.A., Mickanin, C., Porter, J.A., Vertegaal, A.C., van Dam, H., Gribnau, J., Lu, C.X., and Ten Dijke, P. (2012) RNF12 Controls Embryonic Stem Cell Fate and Morphogenesis in Zebrafish Embryos by Targeting Smad7 for Degradation. Molecular Cell. 46(5):650-661
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