Gene

pola1

ID
ZDB-GENE-030114-9
Name
polymerase (DNA directed), alpha 1
Symbol
pola1 Nomenclature History
Previous Names
  • pola (1)
  • cb678 (1)
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. 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
Expression
All Expression Data
13 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pola1 Human Ortholog
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
Associated With pola1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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, C-terminal 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, N-terminal domain DNA polymerase alpha, zinc finger domain superfamily DNA polymerase family B, C-terminal 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:E9QIM3 1456
UniProtKB:F1QNV6 738
UniProtKB:Q6DRM6 1389
UniProtKB:E7FB68 1468
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations