npc2.1 NPC intracellular cholesterol transporter 2, tandem duplicate 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: npc2.1provided by ZNC
Official Full Name: NPC intracellular cholesterol transporter 2, tandem duplicate 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-021206-13
See related: Ensembl:ENSDARG00000090912 AllianceGenome:ZFIN:ZDB-GENE-021206-13
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: npc2; cb292; sb:cb292
Summary: Predicted to enable cholesterol binding activity. Acts upstream of or within several processes, including embryonic organ morphogenesis; nervous system development; and otic vesicle development. Predicted to be located in endoplasmic reticulum; extracellular region; and lysosome. Is expressed in several structures, including heart; liver; muscle; pleuroperitoneal region; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 17

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (43030321..43031816, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (43039783..43041271, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of Niemann-Pick type C2 in zebrafish embryonic development.
Title: The role of Niemann-Pick type C2 in zebrafish embryonic development.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables sterol binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular cholesterol transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within notochord morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otolith formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 2

Names: 16.5 kDa secretory protein; Niemann-Pick disease, type C2; epididymal secretory protein E1; niemann Pick type C2 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_173224.1 → NP_775331.1 NPC intracellular cholesterol transporter 2 precursor

See identical proteins and their annotated locations for NP_775331.1

Status: PROVISIONAL

Source sequence(s)

AF291663

UniProtKB/Swiss-Prot

Q9DGJ3

UniProtKB/TrEMBL

A0A8M9PE29

Related

ENSDARP00000050398.6, ENSDART00000050399.9

Conserved Domains (1) summary

cd00916
Location:24 → 145

Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007128.7 Reference GRCz11 Primary Assembly

Range

43030321..43031816 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021467104.2 → XP_021322779.1 NPC intracellular cholesterol transporter 2 isoform X1

UniProtKB/Swiss-Prot

Q9DGJ3

UniProtKB/TrEMBL

A0A8M9PE29

Related

ENSDARP00000113663.1, ENSDART00000132754.2

Conserved Domains (1) summary

cd00916
Location:24 → 145

Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...