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 have several functions, including DNA binding activity; DNA-directed DNA polymerase activity; and nucleotide binding activity. Predicted to be involved in lagging strand elongation; leading strand elongation; and mitotic DNA replication initiation. Predicted to localize to alpha DNA polymerase:primase complex. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability. Is expressed in immature eye; nervous system; neural tube; pectoral fin musculature; and pharyngeal arch 3-7 skeleton. 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 | 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
|
1468 |
Interactions and Pathways
No data available
Plasmids
No data available