Gene
trip12
- ID
- ZDB-GENE-041111-262
- Name
- thyroid hormone receptor interactor 12
- Symbol
- trip12 Nomenclature History
- Previous Names
-
- im:7149446
- si:ch211-272f3.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including chromatin remodeling; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein polyubiquitination. Predicted to act upstream of or within DNA repair. Predicted to be located in nucleoplasm. Predicted to be active in nuclear speck. Is expressed in myotome. Human ortholog(s) of this gene implicated in Clark-Baraitser syndrome. Orthologous to human TRIP12 (thyroid hormone receptor interactor 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149446 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa954 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8943 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa9786 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9891 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10603 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13854 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17600 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23366 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa29080 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Clark-Baraitser syndrome | Alliance | Intellectual developmental disorder, autosomal dominant 49 | 617752 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | E3 ubiquitin-protein ligase HECTD1/TRIP12-like | HECT domain | HECT, E3 ligase catalytic domain | WWE domain | WWE domain, subgroup | WWE domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1RCR6 | InterPro | 2026 | ||||||||
| UniProtKB:A0A8M2B5R0 | InterPro | 2054 | ||||||||
| UniProtKB:A0A8M1P4D4 | InterPro | 2053 | ||||||||
| UniProtKB:A0A8M2B655 | InterPro | 2096 | ||||||||
| UniProtKB:A0A8M9PA43 | InterPro | 1666 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
trip12-201
(1)
|
Ensembl | 7,723 nt | ||
| mRNA |
trip12-202
(1)
|
Ensembl | 258 nt | ||
| mRNA |
trip12-203
(1)
|
Ensembl | 6,552 nt |
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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 | CH73-160P19 | ZFIN Curated Data | |
| Contained in | BAC | CH211-232P17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-272F3 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7149446 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001347668 (1) | 7723 nt | ||
| Genomic | GenBank:BX255879 (1) | 173755 nt | ||
| Polypeptide | UniProtKB:A0A8M2B655 (1) | 2096 aa |
- Tu, J., Yu, S., Li, J., Ren, M., Zhang, Y., Luo, J., Sun, K., Lv, Y., Han, Y., Huang, Y., Ren, X., Jiang, T., Tang, Z., Williams, M.T.S., Lu, Q., Liu, M. (2022) Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development (Cambridge, England). 149(17)
- 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
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