Gene
pbx1a
- ID
- ZDB-GENE-000405-1
- Name
- pre-B-cell leukemia homeobox 1a
- Symbol
- pbx1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 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 hemopoiesis; swim bladder morphogenesis; and vasculature development. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; head; pleuroperitoneal region; presumptive swim bladder; and swim bladder bud. Human ortholog(s) of this gene implicated in congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay. Orthologous to human PBX1 (PBX homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu391 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Alliance | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 617641 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | KN homeodomain | PBX, PBC domain | Three Amino acid Loop Extension (TALE) homeobox |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q9I9B7 | InterPro | 428 | ||||||
| UniProtKB:A0A8M6Z2J2 | InterPro | 425 | ||||||
| UniProtKB:Q9I9B6 | InterPro | 346 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available