Gene
entpd1
- ID
- ZDB-GENE-040801-58
- Name
- ectonucleoside triphosphate diphosphohydrolase 1
- Symbol
- entpd1 Nomenclature History
- Previous Names
-
- NTPDase1 (1)
- zgc:100819
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable GDP phosphatase activity and UDP phosphatase activity. Acts upstream of or within cellular response to methanol; response to copper ion; and response to ethanol. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; hindbrain neural plate; nervous system; and periderm. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 64. Orthologous to human ENTPD1 (ectonucleoside triphosphate diphosphohydrolase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151329 (24 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 64 | Alliance | Spastic paraplegia 64, autosomal recessive | 615683 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR000407 | Nucleoside phosphatase GDA1/CD39 |
Domain Details Per Protein
| Protein | Length | Nucleoside phosphatase GDA1/CD39 |
|---|---|---|
|
UniProtKB:E7FG27
|
496 | |
|
UniProtKB:Q6DC46
|
492 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
entpd1-201
(1)
|
Ensembl | 2,420 nt | ||
| mRNA |
entpd1-202
(1)
|
Ensembl | 1,491 nt | ||
| mRNA |
entpd1-203
(1)
|
Ensembl | 796 nt |
Interactions and Pathways
No data available
Plasmids
No data available