Gene
npc1
- ID
- ZDB-GENE-030131-3161
- Name
- Niemann-Pick disease, type C1
- Symbol
- npc1 Nomenclature History
- Previous Names
-
- im:7149020
- wu:fb53a12
- wu:fc29a12
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have lipid transporter activity. Involved in several processes, including cholesterol homeostasis; epiboly involved in gastrulation with mouth forming second; and megakaryocyte development. Predicted to localize to integral component of membrane. Used to study Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Is expressed in several structures, including heart; liver; nervous system; pleuroperitoneal region; and yolk syncytial layer. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149020 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- 31 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Niemann-Pick disease type C1 | Alliance | Niemann-Pick disease, type C1 | 257220 |
| Niemann-Pick disease type C1 | Alliance | Niemann-Pick disease, type D | 257220 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | HMGCR/SNAP/NPC1-like, sterol-sensing domain | Niemann-Pick C1, N-terminal | NPC1-like | NPC1, middle luminal domain | Protein patched/dispatched | Sterol-sensing domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8Q2J0
|
1277 | ||||||
|
UniProtKB:A0A0R4IZV0
|
1271 | ||||||
|
UniProtKB:F1QNG7
|
1276 |
Interactions and Pathways
No data available
Plasmids
No data available