Gene
pola1
- ID
- ZDB-GENE-030114-9
- Name
- polymerase (DNA directed), alpha 1
- Symbol
- pola1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; DNA-directed DNA polymerase activity; and chromatin binding activity. Predicted to be involved in lagging strand elongation and leading strand elongation. Predicted to act upstream of or within mitotic DNA replication initiation. Predicted to be located in nucleus. Predicted to be part of alpha DNA polymerase:primase complex. Is expressed in immature eye; nervous system; neural tube; pectoral fin musculature; and pharyngeal arch 3-7 skeleton. Human ortholog(s) of this gene implicated in Van Esch-O'Driscoll syndrome and X-linked reticulate pigmentary disorder. Orthologous to human POLA1 (DNA polymerase alpha 1, catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb678 (20 images)
- IMAGE:7151710 (10 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Van Esch-O'Driscoll syndrome | Alliance | Van Esch-O'Driscoll syndrome | 301030 |
| X-linked reticulate pigmentary disorder | Alliance | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017964 | DNA-directed DNA polymerase, family B, conserved site |
| Domain | IPR006133 | DNA-directed DNA polymerase, family B, exonuclease domain |
| Domain | IPR006134 | DNA-directed DNA polymerase, family B, multifunctional domain |
| Domain | IPR015088 | Zinc finger, DNA-directed DNA polymerase, family B, alpha |
| Domain | IPR024647 | DNA polymerase alpha catalytic subunit, N-terminal domain |
| Domain | IPR045846 | DNA polymerase alpha catalytic subunit, catalytic domain |
| Family | IPR006172 | DNA-directed DNA polymerase, family B |
| Homologous_superfamily | IPR012337 | Ribonuclease H-like superfamily |
| Homologous_superfamily | IPR023211 | DNA polymerase, palm domain superfamily |
| Homologous_superfamily | IPR036397 | Ribonuclease H superfamily |
| Homologous_superfamily | IPR038256 | DNA polymerase alpha, zinc finger domain superfamily |
| Homologous_superfamily | IPR042087 | DNA polymerase family B, thumb domain |
| Homologous_superfamily | IPR043502 | DNA/RNA polymerase superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | DNA-directed DNA polymerase, family B | DNA-directed DNA polymerase, family B, conserved site | DNA-directed DNA polymerase, family B, exonuclease domain | DNA-directed DNA polymerase, family B, multifunctional domain | DNA polymerase alpha catalytic subunit, catalytic domain | DNA polymerase alpha catalytic subunit, N-terminal domain | DNA polymerase alpha, zinc finger domain superfamily | DNA polymerase family B, thumb domain | DNA polymerase, palm domain superfamily | DNA/RNA polymerase superfamily | Ribonuclease H-like superfamily | Ribonuclease H superfamily | Zinc finger, DNA-directed DNA polymerase, family B, alpha |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7FB68 | InterPro | 1468 |
Interactions and Pathways
No data available
Plasmids
No data available