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

Expression

All Expression Data

14 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7149020 (5 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 40 figures from 9 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

Human Disease	Fish	Conditions	Citations
Niemann-Pick disease type C1	npc1^{ihb334/ihb334}	standard conditions	Lin et al., 2018
Niemann-Pick disease type C1	npc1^hg37/hg37	standard conditions	Tseng et al., 2018
Niemann-Pick disease type C1	npc1^{ihb335/ihb335}	standard conditions	Lin et al., 2018
Niemann-Pick disease type C1	AB/TL + MO1-npc1	control	Cook et al., 2020
Niemann-Pick disease type C1	npc1^y535/y535	standard conditions	Tseng et al., 2018
Niemann-Pick disease type C1	npc1^{zf3971/zf3971} (AB)	standard conditions	Quelle-Regaldie et al., 2023
Niemann-Pick disease type C1	npc1^{zf3970/zf3970} (AB)	standard conditions	Quelle-Regaldie et al., 2023

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
Domain	IPR053956	NPC1, middle luminal domain
Domain	IPR053958	HMGCR/SNAP/NPC1-like, sterol-sensing domain
Family	IPR003392	Protein patched/dispatched
Family	IPR004765	NPC1-like

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 InterPro	1277
UniProtKB:A0A0R4IZV0 InterPro	1271
UniProtKB:F1QNG7 InterPro	1276

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	npc1-201 (1) Ensembl	Ensembl	5,008 nt	Select Tool ZFIN BLAST
mRNA	npc1-202 (1) Ensembl	Ensembl	4,994 nt	Select Tool ZFIN BLAST
mRNA	npc1-203 (1) Ensembl	Ensembl	3,834 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-npc1	monoclonal	npc1	IgG	Rabbit	IHC WB	Abcam plc	3
Ab1-npc1	polyclonal	npc1	IgG	Rabbit			1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations