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 have nucleotide diphosphatase activity and phosphodiesterase I activity. Involved in phosphate ion homeostasis and regulation of bone mineralization. Predicted to localize to cell surface. Human ortholog(s) of this gene implicated in several diseases, including arterial calcification of infancy; end stage renal failure; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Is expressed in cleithrum and opercle. Orthologous to several human genes including 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 |
| Domain | IPR020821 | Extracellular Endonuclease, subunit A |
| 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 | DNA/RNA non-specific endonuclease superfamily | Extracellular Endonuclease, subunit A | 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