Protein Description

Gene Symbol NPC1
Entrez ID 4864
Uniprot ID O15118
Description Niemann-Pick disease, type C1
Chromosomal Location chr18: 23,506,184-23,586,898
Ontology GO ID GO Term Definition Evidence

BP

GO:0006486

protein glycosylation

A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.

IDA

BP

GO:0006897

endocytosis

A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.

IEA

BP

GO:0006914

autophagy

The process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.

IGI

BP

GO:0007041

lysosomal transport

The directed movement of substances into, out of or within a lysosome.

ISS

BP

GO:0007165

signal transduction

The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

IEA

BP

GO:0007628

adult walking behavior

The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg.

IEA

BP

GO:0008203

cholesterol metabolic process

The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.

IEA

BP

GO:0008206

bile acid metabolic process

The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.

ISS

BP

GO:0016242

negative regulation of macroautophagy

Any process that stops, prevents, or reduces the frequency, rate or extent of macroautophagy.

IEA

BP

GO:0030301

cholesterol transport

The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

IDA

BP

GO:0031579

membrane raft organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of membrane rafts, small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes.

IMP

BP

GO:0033344

cholesterol efflux

The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.

IDA

BP

GO:0042493

response to drug

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease.

IEA

BP

GO:0042632

cholesterol homeostasis

Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.

IDA|ISS

BP

GO:0046686

response to cadmium ion

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cadmium (Cd) ion stimulus.

IEA

BP

GO:0046718

viral entry into host cell

The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm.

IMP

BP

GO:0060548

negative regulation of cell death

Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.

IEA

BP

GO:0071383

cellular response to steroid hormone stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.

IEA

BP

GO:0071404

cellular response to low-density lipoprotein particle stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a low-density lipoprotein particle stimulus.

IEA

BP

GO:0090150

establishment of protein localization to membrane

The directed movement of a protein to a specific location in a membrane.

IDA

BP

GO:2000189

positive regulation of cholesterol homeostasis

Any process that activates or increases the frequency, rate or extent of cholesterol homeostasis.

IMP

CC

GO:0005576

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

ISS

CC

GO:0005635

nuclear envelope

The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).

IDA

CC

GO:0005764

lysosome

A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.

ISS

CC

GO:0005765

lysosomal membrane

The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.

IDA

CC

GO:0005783

endoplasmic reticulum

The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).

IDA

CC

GO:0005794

Golgi apparatus

A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.

IEA

CC

GO:0005887

integral component of plasma membrane

The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IDA

CC

GO:0016020

membrane

A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

IDA

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

TAS

CC

GO:0031902

late endosome membrane

The lipid bilayer surrounding a late endosome.

IEA

CC

GO:0045121

membrane raft

Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.

IEA

CC

GO:0048471

perinuclear region of cytoplasm

Cytoplasm situated near, or occurring around, the nucleus.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0001618

virus receptor activity

Combining with a virus component and mediating entry of the virus into the cell.

IEA

MF

GO:0004872

receptor activity

Combining with an extracellular or intracellular messenger to initiate a change in cell activity.

TAS

MF

GO:0004888

transmembrane signaling receptor activity

Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

TAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0015248

sterol transporter activity

Enables the directed movement of sterols into, out of or within a cell, or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.

TAS

MF

GO:0015485

cholesterol binding

Interacting selectively and non-covalently with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.

IDA

Domain ID Description

IPR000731

Sterol-sensing domain

IPR003392

Protein patched/dispatched

IPR004765

Niemann-Pick C type protein

IPR032190

Niemann-Pick C1, N-terminal

Pathway ID Pathway Term Pathway Source

hsa04142

Lysosome

KEGG

WP229

Irinotecan Pathway

WikiPathways

UMLS CUI UMLS Term

C0004134

Ataxia

C0004153

Atherosclerosis

C0013362

Dysarthria

C0023890

Liver Cirrhosis

C0023895

Liver Diseases

C0028754

Obesity

C0029089

Ophthalmoplegia

C0220756

Niemann-Pick Disease, Type C

C0268247

Niemann-Pick Disease, Type D

C3179455

Niemann-Pick Disease, Type C1

Tissue Cell Type

adrenal gland

glandular cells

kidney

cells in tubules

ovary

follicle cells

seminal vesicle

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

Gene Symbol Entrez ID Uniprot ID Score

MRPS28

28957

Q9Y2Q9

0.49

TMOD3

29766

Q9NYL9

0.49

LGALS8

3964

O00214

0.63

LRP6

4040

O75581

0.63

PTPRK

5796

Q15262

0.63

FBXO6

26270

Q9NRD1

0.63

LGR4

55366

Q9BXB1

0.63

UNC93B1

81622

Q9H1C4

0.63

OSBPL5

114879

Q9H0X9

0.63

VPS4A

27183

Q9UN37

0.70

TMEM173

340061

Q86WV6

0.72