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
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. 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
- 7 figures from 4 publications
- 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 with T-cell deficiency | 615560 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:B0S7C8
|
340 |
Interactions and Pathways
No data available
Plasmids