Gene
tbl1x
- ID
- ZDB-GENE-070209-131
- Name
- transducin beta like 1 X-linked
- Symbol
- tbl1x Nomenclature History
- Previous Names
-
- zgc:158242
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have transcription corepressor activity. Predicted to be involved in histone deacetylation and regulation of transcription by RNA polymerase II. Predicted to localize to histone deacetylase complex. Human ortholog(s) of this gene implicated in Y-linked deafness 2 and congenital hypothyroidism. Orthologous to human TBL1X (transducin beta like 1 X-linked) and TBL1Y (transducin beta like 1 Y-linked).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital nongoitrous hypothyroidism 8 | Alliance | Hypothyroidism, congenital, nongoitrous, 8 | 301033 |
Y-linked deafness 2 | Alliance | ?Deafness, Y-linked 2 | 400047 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR006594 | LIS1 homology motif |
Conserved_site | IPR019775 | WD40 repeat, conserved site |
Family | IPR045183 | F-box-like/WD repeat-containing protein Ebi-like |
Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
Repeat | IPR001680 | WD40 repeat |
Repeat | IPR020472 | G-protein beta WD-40 repeat |
Domain Details Per Protein
Protein | Length | F-box-like/WD repeat-containing protein Ebi-like | G-protein beta WD-40 repeat | LIS1 homology motif | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:A2RUX0
|
510 |
Interactions and Pathways
No data available
Plasmids
No data available