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. Is expressed in several structures, including heart; liver; nervous system; pleuroperitoneal region; and yolk syncytial layer. Used to study Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1).
Genome Resources
Note
None
Expression
All Expression Data
13 figures from 7 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
27 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With npc1 Human Ortholog
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
Associated With npc1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000731 Sterol-sensing domain
Domain IPR032190 Niemann-Pick C1, N-terminal
Family IPR003392 Protein patched/dispatched
Family IPR004765 NPC1-like
Domain Details Per Protein
Protein Length Niemann-Pick C1, N-terminal NPC1-like Protein patched/dispatched Sterol-sensing domain
UniProtKB:A0A2R8Q2J0 1277
UniProtKB:F1QNG7 1276
UniProtKB:Q5BLA0 91
UniProtKB:F6N6I8 1277
UniProtKB:A0A0R4IZV0 1271
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-npc1 monoclonal IgG Rabbit
  • IHC
  • WB
Abcam plc
2
Ab1-npc1 polyclonal IgG Rabbit
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations