NPC2 NPC intracellular cholesterol transporter 2 [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: NPC2provided by VGNC
Official Full Name: NPC intracellular cholesterol transporter 2provided by VGNC
Primary source: VGNC:VGNC:32196
See related: BGD:BT22616; Ensembl:ENSBTAG00000021955
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Also known as: HE1
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 10

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	10	NC_037337.1 (85774962..85783554, complement)

Chromosome 10 - NC_037337.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037337.1 Chromosome 10 Reference ARS-UCD2.0 Primary Assembly

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest ASM (acid sphingomyelinase) activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2 (Niemann Pick protein type C2); hydrolysis of sphingomyelin by ASM may be crucial for endosomal lipid degradation/sorting.
Title: Acid sphingomyelinase activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2.
Data show that the effects of the lipids on cholesterol transfer mediated by NPC2 were similar to their effect on membrane fusion induced by NPC2 and saposin-C.
Title: Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion.
NPC2 plays an important role in endo/lysosomal cholesterol trafficking by markedly accelerating the rates of cholesterol transport. Rates of sterol transfer from and between membranes were increased by as much as 2 orders of magnitude by NPC2.
Title: Regulation of sterol transport between membranes and NPC2.
The seminal plasma protein, Niemann-Pick C2 protein, is involved in cholesterol and GM1 depletion within detergent-resistant membrane, then leading to membrane redistribution of P25b that occurs in a very rapid and capacitation-independent manner.
Title: Seminal plasma proteins regulate the association of lipids and proteins within detergent-resistant membrane domains of bovine spermatozoa.
analysis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease
Title: Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease.
bNPC2 has a loosely packed region penetrating from the surface into the hydrophobic core that forms adjacent small cavities and represents an incipient cholesterol-binding site
Title: Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease.

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General gene information

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Markers

NPC2 (e-PCR)
- UniSTS:278840

MARC_3238-3239:966881443:1 (e-PCR)
- UniSTS:269233

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables cholesterol binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular cholesterol transport	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 2

Names: EPV20; 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_173918.2 → NP_776343.1 NPC intracellular cholesterol transporter 2 precursor

See identical proteins and their annotated locations for NP_776343.1

Status: PROVISIONAL

Source sequence(s)

X85799

UniProtKB/Swiss-Prot

P79345, Q3T091, Q58DR4

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_002263795.3-RS_2023_09

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

Reference ARS-UCD2.0 Primary Assembly

Genomic

NC_037337.1 Reference ARS-UCD2.0 Primary Assembly

Range

85774962..85783554 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005211920.5 → XP_005211977.3 NPC intracellular cholesterol transporter 2 isoform X1

UniProtKB/TrEMBL

A0AAF6Z9Z6

Related

ENSBTAP00000029271.3, ENSBTAT00000029271.4

Conserved Domains (1) summary

cd00916
Location:61 → 178

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 ...