Reading the record for NPC1 from HGNC, NCBI Gene and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 115 seconds for it, and its scripts then bring in the page, or a line saying what did not arrive.
The full name, the identifiers, the location and the notes from the sources arrive with the record. Nothing is filled in ahead of it.
Order door
The door to order for NPC1 opens with the record, which decides which product it carries. The order page itself is open now.
Cytogenetic band 18q11.2NCBI: 18:23,506,184-23,586,506 on the minus strand, GRCh38.p14 (GCF_000001405.40), sequence NC_000018.10, annotation GCF_000001405.40-RS_2025_08 of 2025-08-01Ensembl: 18:23,506,184-23,586,969 on the minus strand, GRCh38.p14 (GCA_000001405.29), release 116Coordinates are one-based with both ends included, as each source reports them.
Reading NCBI Gene and UniProt.Still reading. A first read of a gene can take a while; this page waits up to 30 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
02 / Transcripts and isoforms
The RNA a design targets
Reading NCBI Datasets and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
Reading NCBI Datasets and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
14 / Silencing this gene
From NPC1 to a sequence that silences it
The AUMsilence™ platform designs the sequences against the human transcripts on this page. Six decisions are yours before it does. What is written under each is AUM's guidance; the timings and the concentrations are in the usage guide below.
01
Choose the region
A knockdown oligonucleotide can sit in the 5' untranslated region, the coding sequence or the 3' untranslated region, and all three are used. The coding sequence and the 3' untranslated region are the usual first choices for an RNase H design; the 5' end near the start codon suits a steric block. The map above shows where each region sits on the isoforms it draws.
02
Cover the isoforms you mean
An exon every isoform carries silences the whole gene; an exon only some isoforms carry silences those and spares the rest. Decide which you want before a sequence is chosen, and check the reference transcript (MANE Select in human; RefSeq Select and Ensembl canonical in mouse and rat) is the one your cells express.
03
Think across species early
The orthologs panel says whether mouse and rat carry the same gene. Whether one oligonucleotide can serve two species is a sequence question, settled at design by matching the candidate against each transcript, not by the protein identity shown there.
04
Check expression in your model
A transcript that is not expressed in your cells cannot show knockdown. Confirm the gene is expressed in the cell type and condition you will use, from your own data or a reference atlas, before the order. The expression panel above gives GTEx's median per tissue for a human gene; for mouse and rat it says that no atlas is on this page yet.
Reading UniProt, InterPro, AlphaFold DB and PDBe.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
05 / Interactions
Proteins STRING associates with NPC1
Reading STRING.Still reading. A first read of a gene can take a while; this page waits up to 50 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
06 / Pathways
Where NPC1 acts, as Reactome curates it
Reading UniProt and Reactome.Still reading. A first read of a gene can take a while; this page waits up to 60 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
07 / Disease associations
Diseases linked to NPC1
Reading Open Targets and ClinGen.Still reading. A first read of a gene can take a while; this page waits up to 105 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
08 / Variants
Classified variants of NPC1
Reading ClinVar.Still reading. A first read of a gene can take a while; this page waits up to 60 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
09 / Constraint
How much variation NPC1 tolerates
Ready in a moment
10 / Orthologs
The same gene in mouse, rat and human
Reading the Alliance, NCBI, Ensembl Compara and RGD.Still reading. A first read of a gene can take a while; this page waits up to 145 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
11 /MicroRNAs
MicroRNAs hosted within NPC1
Ready in a moment
12 / Long non-coding RNAs
Long non-coding RNAs at the NPC1 locus
Ready in a moment
13 / Literature
Papers that mention NPC1
Ready in a moment
05
Run the controls
A scramble control of the same chemistry, a positive control against a gene known to knock down in your cells, untreated cells, and a mock condition where a transfection reagent is used. Read knockdown at the RNA level first, then at the protein; the usage guide gives the timing and the concentrations to start from.
06
Pick the product
AUMsilence sdASO needs no transfection reagent and works in the cells that resist one. AUMsilence toASO is the transfection-optimised version of the same design, and AUMsiRNA™ is the siRNA route. The selection guide compares them.
For research use only. Not for use in diagnostic or therapeutic procedures.
This gene encodes a large protein that resides in the limiting membrane of…
NCBI Gene summary
54 GTEx tissues; the highest median in Brain - Spinal cord (cervical c-1), 42.6 TPM.
GTEx
pLI below 0.0001 and LOEUF 0.725 in gnomAD v4 (GRCh38), on ENST00000269228.10.
gnomAD
No annotated microRNA lies within NPC1 in Ensembl release 116, on GRCh38.p14.
Ensembl · miRBase
No annotated long non-coding RNA overlaps NPC1 in Ensembl release 116, on GRCh38.p14.
Ensembl
7,315 PubMed-indexed papers mention NPC1 at Europe PMC, newest first. Europe PMC ignores letter case, so the count also covers another species' symbol spelled with the same letters.
Europe PMC
Gene summary
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.
Provided by RefSeq, Aug 2009, through NCBI Gene. NCBI disclaimer
Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9211849, PubMed:9927649). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:27378690, PubMed:28784760, PubMed:9211849, PubMed:9927649). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Mediates cholesterol transfer from lysosomes to endoplasmic reticulum by tethering endosomal/lysosomal compartments and endoplasmic reticulum membrane contact sites where it interacts with sterol transport protein GRAMD1B (PubMed:31537798). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 (PubMed:28336668)
(Microbial infection) Acts as an endosomal entry receptor for ebolavirus
NCBI Gene summary · NCBI Gene annotation RS_2025_08 · read · NCBI Gene 4864Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
UniProtKB function · 2026_03 · read · UniProt O15118UniProt data are available under the Creative Commons Attribution 4.0 licence.
1 curated, 0 inferred Reactome pathways for O15118 in human, v97.
Reactome
10 RefSeq and 40 Ensembl transcripts on GRCh38.p14; MANE Select NM_000271.5.
NCBI Datasets · Ensembl
Placed on GRCh38.p14 (GCF_000001405.40). MANE Select marks the one transcript RefSeq and Ensembl agree is the reference for this gene.
RefSeq 10 transcripts
coding sequence, tall
untranslated region, thin
non-coding exon
intron, fixed width
Genomic strand: minus. Drawn 5' to 3', so exon 1 sits at the left here and at the highest coordinate on the chromosome.
NM_000271.5NM_000271.5MANE Select
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
Not listed, because the source places them on another assembly only: XM_054318664.1 (not placed on GRCh38.p14); XM_054318665.1 (not placed on GRCh38.p14); XM_054318666.1 (not placed on GRCh38.p14); XM_054318667.1 (not placed on GRCh38.p14); XM_054318668.1 (not placed on GRCh38.p14); XM_054318669.1 (not placed on GRCh38.p14); XM_054318670.1 (not placed on GRCh38.p14); XM_054318671.1 (not placed on GRCh38.p14); XM_054318672.1 (not placed on GRCh38.p14).
NCBI Datasets, RefSeq transcripts · NCBI Datasets 18.37.0; GCF_000001405.40-RS_2025_08 · read · NCBI Gene 4864Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
Ensembl 40 transcripts
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
Lengths are spliced lengths, as each source states them. Exon ranks follow the strand: on a minus-strand gene exon 1 has the highest genomic coordinate. Reference assembly for human: GRCh38.
XM_017025784.1XM_017025784.1
XM_017025786.2XM_017025786.2
XM_006722479.4XM_006722479.4
XM_017025787.2XM_017025787.2
XM_017025785.1XM_017025785.1
XM_047437539.1XM_047437539.1
XM_005258278.6XM_005258278.6
XM_005258277.1XM_005258277.1
XM_005258279.3XM_005258279.3
scale
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it.
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other, except 3 blocks too short to see, widened to a fixed few pixels; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it.
The 25 highest-scoring STRING partners at or above a combined score of 0.4, of up to 25 asked for; OSBPL5, NPC2, GTPBP1 lead.
STRING v12.0
Mouse Npc1 by 3 of 3 votes; rat Npc1 by 3 of 3 votes. RGD is not answering, so the ortholog list could not be shown. Try again later. Reference ff1233f1-f82.
Alliance · NCBI · Ensembl Compara
1,278 residues, reviewed O15118; 11 entries from the member databases this page shows along the chain; mean pLDDT 85.12; 20 PDB entries.
UniProt · InterPro · AlphaFold DB · PDBe
ClinVar: 2,926 records for NPC1, 704 pathogenic or likely pathogenic.
ClinVar
2,340 Open Targets disease associations; Niemann-Pick disease, type C1 first, at 0.80.
