Gene
pax1b
- ID
- ZDB-GENE-060503-372
- Name
- paired box 1b
- Symbol
- pax1b Nomenclature History
- Previous Names
-
- si:dkeyp-50f5.1
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Is predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in anatomical structure development and regulation of transcription by RNA polymerase II. Acts upstream of or within embryonic skeletal system development and pectoral fin development. Predicted to be located in nucleus. Is expressed in axial blood vessel; fin bud; notochord; pharynx; and somite. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Orthologous to human PAX1 (paired box 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Liu et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Otofaciocervical syndrome 2 | 615560 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001523 | Paired domain |
| Domain | IPR043182 | Paired DNA-binding domain |
| Family | IPR033206 | Paired box protein PAX1 |
| Family | IPR043565 | PAX family |
| Homologous_superfamily | IPR009057 | Homeobox-like domain superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Homeobox-like domain superfamily | Paired box protein PAX1 | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8Q5G5
|
337 | ||||||
|
UniProtKB:A0A2R8PYI0
|
353 | ||||||
|
UniProtKB:B0S7C8
|
340 |
Interactions and Pathways
No data available
Plasmids
No data available