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

Summary

Official Symbol: npc2.2provided by ZNC
Official Full Name: NPC intracellular cholesterol transporter 2, tandem duplicate 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-080723-11
See related: Ensembl:ENSDARG00000096979 AllianceGenome:ZFIN:ZDB-GENE-080723-11
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: zgc:193713; zgc:193725
Summary: Predicted to enable cholesterol binding activity. Predicted to be involved in cholesterol efflux and intracellular cholesterol transport. Predicted to be located in extracellular region. 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, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 17

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (43021662..43022468, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (43031124..43031930, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages 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?

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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
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in nervous system development	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 extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Epididymal secretory protein E1-like

Names: Niemann Pick type C2-like; epididymal secretory protein E1-like

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_001128719.1 → NP_001122191.1 Epididymal secretory protein E1-like precursor

See identical proteins and their annotated locations for NP_001122191.1

Status: PROVISIONAL

Source sequence(s)

BC162187

UniProtKB/TrEMBL

B3DFW4, B3DFX2, F6NXV7

Related

ENSDARP00000014574.2, ENSDART00000002945.4

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 ...