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Protein

NPC1-like intracellular cholesterol transporter 1

Gene

NPC1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.2 Publications

Miscellaneous

Target of cholesterol lowering drugs.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • drug binding Source: Ensembl
  • myosin V binding Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • cellular response to sterol depletion Source: UniProtKB
  • cholesterol biosynthetic process Source: HGNC
  • cholesterol transport Source: HGNC
  • intestinal cholesterol absorption Source: HGNC
  • intestinal lipid absorption Source: Reactome
  • lipoprotein metabolic process Source: HGNC
  • response to drug Source: Ensembl

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8963678 Intestinal lipid absorption

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UHC9

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.6.6.6 the resistance-nodulation-cell division (rnd) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001532

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NPC1-like intracellular cholesterol transporter 1Imported
Alternative name(s):
Niemann-Pick C1-like protein 11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPC1L1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000015520.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7898 NPC1L1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608010 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UHC9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 284ExtracellularCuratedAdd BLAST263
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei285 – 305Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini306 – 351CytoplasmicCuratedAdd BLAST46
Transmembranei352 – 372Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini373 – 632ExtracellularCuratedAdd BLAST260
Transmembranei633 – 653Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini654 – 666CytoplasmicCuratedAdd BLAST13
Transmembranei667 – 687Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini688 – 696ExtracellularCurated9
Transmembranei697 – 717Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini718 – 742CytoplasmicCuratedAdd BLAST25
Transmembranei743 – 763Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini764 – 776ExtracellularCuratedAdd BLAST13
Transmembranei777 – 797Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini798 – 846CytoplasmicCuratedAdd BLAST49
Transmembranei847 – 867Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini868 – 1139ExtracellularCuratedAdd BLAST272
Transmembranei1140 – 1160Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini1161 – 1168CytoplasmicCurated8
Transmembranei1169 – 1189Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini1190 – 1191ExtracellularCurated2
Transmembranei1192 – 1212Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini1213 – 1236CytoplasmicCuratedAdd BLAST24
Transmembranei1237 – 1257Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini1258 – 1268ExtracellularCuratedAdd BLAST11
Transmembranei1269 – 1289Helical; Name=13Sequence analysisAdd BLAST21
Topological domaini1290 – 1359CytoplasmicCuratedAdd BLAST70

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1300 – 1303LALE → AAAA: Does not affect interaction with LIMA1. 1 Publication4
Mutagenesisi1304 – 1306QKR → AAA: Abolishes interaction with LIMA1. 1 Publication3
Mutagenesisi1308 – 1309EE → AA: Does not affect interaction with LIMA1. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
29881

MalaCards human disease database

More...
MalaCardsi
NPC1L1
MIMi617966 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000015520

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31699

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2027

Drug and drug target database

More...
DrugBanki
DB00973 Ezetimibe

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2629

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPC1L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
425906049

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002326622 – 1359NPC1-like intracellular cholesterol transporter 1Add BLAST1338

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi33 ↔ 901 Publication
Disulfide bondi39 ↔ 571 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi54N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi78 ↔ 1251 Publication
Disulfide bondi91 ↔ 1291 Publication
Disulfide bondi113 ↔ 2541 Publication
Disulfide bondi116 ↔ 1721 Publication
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi189 ↔ 1971 Publication
Disulfide bondi243 ↔ 2591 Publication
Glycosylationi244N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi256 ↔ 2631 Publication
Glycosylationi416N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi431N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi464N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi471 ↔ 485By similarity
Glycosylationi479N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi506N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi525 ↔ 542By similarity
Glycosylationi626N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi920 ↔ 925By similarity
Disulfide bondi966 ↔ 1024By similarity
Disulfide bondi980 ↔ 989By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Highly glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UHC9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UHC9

PeptideAtlas

More...
PeptideAtlasi
Q9UHC9

PRoteomics IDEntifications database

More...
PRIDEi
Q9UHC9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84317
84318 [Q9UHC9-2]
84319 [Q9UHC9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UHC9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UHC9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle.3 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is decreased in Caco-2 cells upon PPARD activation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000015520 Expressed in 76 organ(s), highest expression level in duodenum

CleanEx database of gene expression profiles

More...
CleanExi
HS_NPC1L1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UHC9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UHC9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB070127
CAB070128

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Interacts with NPC2. Interacts with LIMA1 (PubMed:29880681).3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
118936, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q9UHC9, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000289547

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9UHC9

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11359
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QNTX-ray2.83A22-284[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9UHC9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UHC9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini632 – 797SSDPROSITE-ProRule annotationAdd BLAST166

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi500 – 503Poly-Leu4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the patched family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1933 Eukaryota
ENOG410XR54 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159904

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000036674

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003913

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UHC9

KEGG Orthology (KO)

More...
KOi
K14461

Identification of Orthologs from Complete Genome Data

More...
OMAi
PDFEVFP

Database of Orthologous Groups

More...
OrthoDBi
731120at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UHC9

TreeFam database of animal gene trees

More...
TreeFami
TF300416

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032190 NPC1_N
IPR003392 Ptc/Disp
IPR000731 SSD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16414 NPC1_N, 1 hit
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50156 SSD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UHC9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEAGLRGWL LWALLLRLAQ SEPYTTIHQP GYCAFYDECG KNPELSGSLM
60 70 80 90 100
TLSNVSCLSN TPARKITGDH LILLQKICPR LYTGPNTQAC CSAKQLVSLE
110 120 130 140 150
ASLSITKALL TRCPACSDNF VNLHCHNTCS PNQSLFINVT RVAQLGAGQL
160 170 180 190 200
PAVVAYEAFY QHSFAEQSYD SCSRVRVPAA ATLAVGTMCG VYGSALCNAQ
210 220 230 240 250
RWLNFQGDTG NGLAPLDITF HLLEPGQAVG SGIQPLNEGV ARCNESQGDD
260 270 280 290 300
VATCSCQDCA ASCPAIARPQ ALDSTFYLGQ MPGSLVLIII LCSVFAVVTI
310 320 330 340 350
LLVGFRVAPA RDKSKMVDPK KGTSLSDKLS FSTHTLLGQF FQGWGTWVAS
360 370 380 390 400
WPLTILVLSV IPVVALAAGL VFTELTTDPV ELWSAPNSQA RSEKAFHDQH
410 420 430 440 450
FGPFFRTNQV ILTAPNRSSY RYDSLLLGPK NFSGILDLDL LLELLELQER
460 470 480 490 500
LRHLQVWSPE AQRNISLQDI CYAPLNPDNT SLYDCCINSL LQYFQNNRTL
510 520 530 540 550
LLLTANQTLM GQTSQVDWKD HFLYCANAPL TFKDGTALAL SCMADYGAPV
560 570 580 590 600
FPFLAIGGYK GKDYSEAEAL IMTFSLNNYP AGDPRLAQAK LWEEAFLEEM
610 620 630 640 650
RAFQRRMAGM FQVTFMAERS LEDEINRTTA EDLPIFATSY IVIFLYISLA
660 670 680 690 700
LGSYSSWSRV MVDSKATLGL GGVAVVLGAV MAAMGFFSYL GIRSSLVILQ
710 720 730 740 750
VVPFLVLSVG ADNIFIFVLE YQRLPRRPGE PREVHIGRAL GRVAPSMLLC
760 770 780 790 800
SLSEAICFFL GALTPMPAVR TFALTSGLAV ILDFLLQMSA FVALLSLDSK
810 820 830 840 850
RQEASRLDVC CCVKPQELPP PGQGEGLLLG FFQKAYAPFL LHWITRGVVL
860 870 880 890 900
LLFLALFGVS LYSMCHISVG LDQELALPKD SYLLDYFLFL NRYFEVGAPV
910 920 930 940 950
YFVTTLGYNF SSEAGMNAIC SSAGCNNFSF TQKIQYATEF PEQSYLAIPA
960 970 980 990 1000
SSWVDDFIDW LTPSSCCRLY ISGPNKDKFC PSTVNSLNCL KNCMSITMGS
1010 1020 1030 1040 1050
VRPSVEQFHK YLPWFLNDRP NIKCPKGGLA AYSTSVNLTS DGQVLDTVAI
1060 1070 1080 1090 1100
LSPRLEYSGT ISAHCNLYLL DSTSRFMAYH KPLKNSQDYT EALRAARELA
1110 1120 1130 1140 1150
ANITADLRKV PGTDPAFEVF PYTITNVFYE QYLTILPEGL FMLSLCLVPT
1160 1170 1180 1190 1200
FAVSCLLLGL DLRSGLLNLL SIVMILVDTV GFMALWGISY NAVSLINLVS
1210 1220 1230 1240 1250
AVGMSVEFVS HITRSFAIST KPTWLERAKE ATISMGSAVF AGVAMTNLPG
1260 1270 1280 1290 1300
ILVLGLAKAQ LIQIFFFRLN LLITLLGLLH GLVFLPVILS YVGPDVNPAL
1310 1320 1330 1340 1350
ALEQKRAEEA VAAVMVASCP NHPSRVSTAD NIYVNHSFEG SIKGAGAISN

FLPNNGRQF
Length:1,359
Mass (Da):148,728
Last modified:November 28, 2012 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i594F698B48D66DE7
GO
Isoform 2 (identifier: Q9UHC9-2) [UniParc]FASTAAdd to basket
Also known as: NPC1L1DELTAE15

The sequence of this isoform differs from the canonical sequence as follows:
     1046-1072: Missing.

Show »
Length:1,332
Mass (Da):145,794
Checksum:i8483F336EBFD3EA3
GO
Isoform 3 (identifier: Q9UHC9-3) [UniParc]FASTAAdd to basket
Also known as: NPCL1T

The sequence of this isoform differs from the canonical sequence as follows:
     723-724: RL → GP
     725-1359: Missing.

Show »
Length:724
Mass (Da):79,138
Checksum:i15564FF42565270F
GO
Isoform 4 (identifier: Q9UHC9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     850-895: Missing.
     1046-1072: Missing.

Note: No experimental confirmation available.
Show »
Length:1,286
Mass (Da):140,420
Checksum:iFC91AF3FB1E01918
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFX6A0A0C4DFX6_HUMAN
NPC1-like intracellular cholesterol...
NPC1L1
1,332Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGG6A0A0C4DGG6_HUMAN
NPC1-like intracellular cholesterol...
NPC1L1
1,286Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1073T → A in AAF20396 (PubMed:10783261).Curated1
Sequence conflicti1073T → A in AAI43757 (PubMed:15489334).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in NPC1L1 influence low density lipoprotein cholesterol (LDL-C) content defining the low density lipoprotein cholesterol level quantitative trait locus 7 (LDLCQ7) [MIMi:617966]. Inactivating variants may confer a lower risk of coronary heart disease (PubMed:25390462). Rare NPC1L1 variants also influence response to ezetimibe, a drug that reduces plasma LDL-C by blocking sterol absorption in enterocytes (PubMed:15679830).2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02336955V → L Found in a non-responder to ezetimibe treatment. 1 PublicationCorresponds to variant dbSNP:rs119457968EnsemblClinVar.1
Natural variantiVAR_080844167 – 1359Missing 1 PublicationAdd BLAST1193
Natural variantiVAR_080845406 – 1359Missing Polymorphism associated with low LDL-C content and protection against coronary heart disease. 1 PublicationAdd BLAST954
Natural variantiVAR_080846483 – 1359Missing 1 PublicationAdd BLAST877
Natural variantiVAR_056659510M → I. Corresponds to variant dbSNP:rs1468384Ensembl.1
Natural variantiVAR_080847592 – 1359Missing 1 PublicationAdd BLAST768
Natural variantiVAR_080848601 – 1359Missing 1 PublicationAdd BLAST759
Natural variantiVAR_080849604 – 1359Missing 1 PublicationAdd BLAST756
Natural variantiVAR_080850738 – 1359Missing 1 PublicationAdd BLAST622
Natural variantiVAR_080851803 – 1359Missing 1 PublicationAdd BLAST557
Natural variantiVAR_080852967 – 1359Missing 1 PublicationAdd BLAST393
Natural variantiVAR_0233701233I → N Found in a non-responder to ezetimibe treatment. 1 PublicationCorresponds to variant dbSNP:rs52815063EnsemblClinVar.1
Natural variantiVAR_0566601308E → K. Corresponds to variant dbSNP:rs217435Ensembl.1
Natural variantiVAR_0808531325 – 1359Missing 1 PublicationAdd BLAST35

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_015312723 – 724RL → GP in isoform 3. 1 Publication2
Alternative sequenceiVSP_015313725 – 1359Missing in isoform 3. 1 PublicationAdd BLAST635
Alternative sequenceiVSP_054503850 – 895Missing in isoform 4. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0153141046 – 1072Missing in isoform 2 and isoform 4. 4 PublicationsAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF192522 mRNA Translation: AAF20396.1
AF192523 mRNA Translation: AAF20397.1
AY515256 mRNA Translation: AAS56939.1
AY437865 mRNA Translation: AAR97886.1
FJ481111 mRNA Translation: ACL18055.1
AC004938 Genomic DNA No translation available.
CH236960 Genomic DNA Translation: EAL23753.1
CH471128 Genomic DNA Translation: EAW61096.1
CH471128 Genomic DNA Translation: EAW61097.1
CH471128 Genomic DNA Translation: EAW61098.1
BC117178 mRNA Translation: AAI17179.1
BC143756 mRNA Translation: AAI43757.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43575.1 [Q9UHC9-2]
CCDS5491.1 [Q9UHC9-1]
CCDS75587.1 [Q9UHC9-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001095118.1, NM_001101648.1
NP_001287896.1, NM_001300967.1 [Q9UHC9-3]
NP_037521.2, NM_013389.2 [Q9UHC9-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.567486

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000289547; ENSP00000289547; ENSG00000015520 [Q9UHC9-1]
ENST00000423141; ENSP00000404670; ENSG00000015520 [Q9UHC9-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
29881

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:29881

UCSC genome browser

More...
UCSCi
uc003tlb.4 human [Q9UHC9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF192522 mRNA Translation: AAF20396.1
AF192523 mRNA Translation: AAF20397.1
AY515256 mRNA Translation: AAS56939.1
AY437865 mRNA Translation: AAR97886.1
FJ481111 mRNA Translation: ACL18055.1
AC004938 Genomic DNA No translation available.
CH236960 Genomic DNA Translation: EAL23753.1
CH471128 Genomic DNA Translation: EAW61096.1
CH471128 Genomic DNA Translation: EAW61097.1
CH471128 Genomic DNA Translation: EAW61098.1
BC117178 mRNA Translation: AAI17179.1
BC143756 mRNA Translation: AAI43757.1
CCDSiCCDS43575.1 [Q9UHC9-2]
CCDS5491.1 [Q9UHC9-1]
CCDS75587.1 [Q9UHC9-3]
RefSeqiNP_001095118.1, NM_001101648.1
NP_001287896.1, NM_001300967.1 [Q9UHC9-3]
NP_037521.2, NM_013389.2 [Q9UHC9-1]
UniGeneiHs.567486

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QNTX-ray2.83A22-284[»]
ProteinModelPortaliQ9UHC9
SMRiQ9UHC9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118936, 1 interactor
IntActiQ9UHC9, 1 interactor
STRINGi9606.ENSP00000289547

Chemistry databases

BindingDBiQ9UHC9
ChEMBLiCHEMBL2027
DrugBankiDB00973 Ezetimibe
GuidetoPHARMACOLOGYi2629
SwissLipidsiSLP:000001532

Protein family/group databases

TCDBi2.A.6.6.6 the resistance-nodulation-cell division (rnd) superfamily

PTM databases

iPTMnetiQ9UHC9
PhosphoSitePlusiQ9UHC9

Polymorphism and mutation databases

BioMutaiNPC1L1
DMDMi425906049

Proteomic databases

jPOSTiQ9UHC9
PaxDbiQ9UHC9
PeptideAtlasiQ9UHC9
PRIDEiQ9UHC9
ProteomicsDBi84317
84318 [Q9UHC9-2]
84319 [Q9UHC9-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289547; ENSP00000289547; ENSG00000015520 [Q9UHC9-1]
ENST00000423141; ENSP00000404670; ENSG00000015520 [Q9UHC9-3]
GeneIDi29881
KEGGihsa:29881
UCSCiuc003tlb.4 human [Q9UHC9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
29881
DisGeNETi29881
EuPathDBiHostDB:ENSG00000015520.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NPC1L1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0201184
HGNCiHGNC:7898 NPC1L1
HPAiCAB070127
CAB070128
MalaCardsiNPC1L1
MIMi608010 gene
617966 phenotype
neXtProtiNX_Q9UHC9
OpenTargetsiENSG00000015520
Orphaneti426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia
PharmGKBiPA31699

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1933 Eukaryota
ENOG410XR54 LUCA
GeneTreeiENSGT00940000159904
HOGENOMiHOG000036674
HOVERGENiHBG003913
InParanoidiQ9UHC9
KOiK14461
OMAiPDFEVFP
OrthoDBi731120at2759
PhylomeDBiQ9UHC9
TreeFamiTF300416

Enzyme and pathway databases

ReactomeiR-HSA-8963678 Intestinal lipid absorption
SIGNORiQ9UHC9

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
29881

Protein Ontology

More...
PROi
PR:Q9UHC9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000015520 Expressed in 76 organ(s), highest expression level in duodenum
CleanExiHS_NPC1L1
ExpressionAtlasiQ9UHC9 baseline and differential
GenevisibleiQ9UHC9 HS

Family and domain databases

InterProiView protein in InterPro
IPR032190 NPC1_N
IPR003392 Ptc/Disp
IPR000731 SSD
PfamiView protein in Pfam
PF16414 NPC1_N, 1 hit
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPCL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHC9
Secondary accession number(s): A4D2J7
, B7ZLE6, D3DVK9, Q17RV5, Q6R3Q4, Q9UHC8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: November 28, 2012
Last modified: January 16, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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