Gene
enpp1
- ID
- ZDB-GENE-040724-172
- Name
- ectonucleotide pyrophosphatase/phosphodiesterase 1
- Symbol
- enpp1 Nomenclature History
- Previous Names
-
- dgf (1)
- si:ch211-142e24.2
- zgc:136238
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable dinucleotide phosphatase activity and phosphodiesterase I activity. Acts upstream of or within phosphate ion homeostasis and regulation of bone mineralization. Predicted to be located in extracellular region and membrane. Predicted to be active in cell surface. Is expressed in cleithrum and opercle. Used to study arterial calcification of infancy and pseudoxanthoma elasticum. Human ortholog(s) of this gene implicated in several diseases, including arterial calcification of infancy; end stage renal disease; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Orthologous to human ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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 |
|---|---|---|---|
| arterial calcification of infancy | Alliance | Arterial calcification, generalized, of infancy, 1 | 208000 |
| autosomal recessive hypophosphatemic rickets | Alliance | Hypophosphatemic rickets, autosomal recessive, 2 | 613312 |
| obesity | Alliance | {Obesity, susceptibility to} | 601665 |
| type 2 diabetes mellitus | Alliance | {Diabetes mellitus, non-insulin-dependent, susceptibility to} | 125853 |
| Cole disease | 615522 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| pseudoxanthoma elasticum | enpp1hu4581/hu4581 | standard conditions | Apschner et al., 2014 |
| arterial calcification of infancy | enpp1hu4581/hu4581 | standard conditions | Apschner et al., 2014 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001212 | Somatomedin B domain |
| Domain | IPR001604 | DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain |
| Domain | IPR020821 | ENPP1-3/EXOG-like, endonuclease/phosphodiesterase domain |
| Family | IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
| Homologous_superfamily | IPR017850 | Alkaline-phosphatase-like, core domain superfamily |
| Homologous_superfamily | IPR036024 | Somatomedin B-like domain superfamily |
| Homologous_superfamily | IPR044925 | His-Me finger superfamily |
| Homologous_superfamily | IPR044929 | DNA/RNA non-specific endonuclease superfamily |
Domain Details Per Protein
| Protein | Length | Alkaline-phosphatase-like, core domain superfamily | DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain | DNA/RNA non-specific endonuclease superfamily | ENPP1-3/EXOG-like, endonuclease/phosphodiesterase domain | His-Me finger superfamily | Somatomedin B domain | Somatomedin B-like domain superfamily | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1N7G9
|
876 | ||||||||
|
UniProtKB:B0JZL7
|
878 | ||||||||
|
UniProtKB:A0A8M9PPG3
|
740 | ||||||||
|
UniProtKB:A0A8M3B403
|
836 |
Interactions and Pathways
No data available
Plasmids
No data available