Gene
tbl1xr1a
- ID
- ZDB-GENE-050522-314
- Name
- TBL1X/Y related 1a
- Symbol
- tbl1xr1a Nomenclature History
- Previous Names
-
- fc46g07
- wu:fc46g07
- zgc:110312
- Type
- protein_coding_gene
- Location
- Chr: 11 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 autosomal dominant non-syndromic intellectual disability 41. Orthologous to human TBL1XR1 (TBL1X receptor 1).
- 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 |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 41 | Alliance | Intellectual developmental disorder, autosomal dominant 41 | 616944 |
| Pierpont syndrome | Alliance | Pierpont syndrome | 602342 |
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:A5PF33
|
513 | |||||||
|
UniProtKB:Q503Q8
|
416 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbl1xr1a-201
(1)
|
Ensembl | 2,426 nt | ||
| mRNA |
tbl1xr1a-202
(1)
|
Ensembl | 2,898 nt | ||
| mRNA |
tbl1xr1a-203
(1)
|
Ensembl | 2,691 nt | ||
| mRNA |
tbl1xr1a-204
(1)
|
Ensembl | 2,433 nt |
Interactions and Pathways
No data available
Plasmids
No data available