NPC1L1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of NPC1L1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of NPC1L1 at tissue level.

III. Associated gene sets

GO_0030301Biological processcholesterol transport
GO_0051180Biological processvitamin transport
GO_0006695Biological processcholesterol biosynthetic process
GO_0042360Biological processvitamin E metabolic process
GO_0030299Biological processintestinal cholesterol absorption
GO_0071501Biological processcellular response to sterol depletion
GO_0042157Biological processlipoprotein metabolic process
GO_0042632Biological processcholesterol homeostasis
GO_0016324Cellular componentapical plasma membrane
GO_0005886Cellular componentplasma membrane
GO_0030659Cellular componentcytoplasmic vesicle membrane
GO_0031489Molecular functionmyosin V binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0015485Molecular functioncholesterol binding
GO_0005515Molecular functionprotein binding
GO_0031267Molecular functionsmall GTPase binding
GO_0008431Molecular functionvitamin E binding

IV. Literature review

[source]
Gene nameNPC1L1
Protein nameNPC1 like intracellular cholesterol transporter 1
NPC1-like intracellular cholesterol transporter 1 (NPC1L1) (Niemann-Pick C1-like protein 1)
Synonyms
DescriptionFUNCTION: Plays a major role in cholesterol homeostasis . Critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte . Involved in plant sterol absorption, it transports sitosterol, although at lower rates than cholesterol (By similarity). Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption and is approved for the treatment of hypercholesterolemia . May have a function in the transport of multiple lipids and their homeostasis, thereby influencing lipid metabolism regulation . May be involved in caveolin trafficking from the plasma membrane (By similarity). In addition, acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation . .

AccessionsA0A0C4DFX6
ENST00000546276.5
ENST00000289547.8 [Q9UHC9-1]
ENST00000381160.8
ENST00000423141.1 [Q9UHC9-3]
A0A0C4DGG6
Q9UHC9