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Protein

NPC intracellular cholesterol transporter 1

Gene

Npc1

Organism
Mus musculus (Mouse)
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

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:21896731, PubMed:22048958, PubMed:27551080). 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. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (By similarity). 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).By similarityCurated3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei41CholesterolBy similarity1
Binding sitei79CholesterolBy similarity1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei108Important for cholesterol bindingBy similarity1

<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

GO - Biological processi

<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-MMU-8964038 LDL clearance

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000479

<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:
NPC intracellular cholesterol transporter 1Imported
Alternative name(s):
Niemann-Pick C1 protein1 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:Npc1Imported
<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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
  • UP000000589 <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 18

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:1097712 Npc1

<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 domaini23 – 269LumenalCuratedAdd BLAST247
<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>Transmembranei270 – 290HelicalSequence analysisAdd BLAST21
Topological domaini291 – 350CytoplasmicCuratedAdd BLAST60
Transmembranei351 – 371HelicalSequence analysisAdd BLAST21
Topological domaini372 – 621LumenalCuratedAdd BLAST250
Transmembranei622 – 642HelicalSequence analysisAdd BLAST21
Topological domaini643 – 653CytoplasmicCuratedAdd BLAST11
Transmembranei654 – 674HelicalSequence analysisAdd BLAST21
Topological domaini675 – 683LumenalCurated9
Transmembranei684 – 704HelicalSequence analysisAdd BLAST21
Topological domaini705 – 730CytoplasmicCuratedAdd BLAST26
Transmembranei731 – 751HelicalSequence analysisAdd BLAST21
Topological domaini752 – 759LumenalCurated8
Transmembranei760 – 780HelicalSequence analysisAdd BLAST21
Topological domaini781 – 832CytoplasmicCuratedAdd BLAST52
Transmembranei833 – 853HelicalSequence analysisAdd BLAST21
Topological domaini854 – 1097LumenalCuratedAdd BLAST244
Transmembranei1098 – 1118HelicalSequence analysisAdd BLAST21
Topological domaini1119 – 1123CytoplasmicCurated5
Transmembranei1124 – 1144HelicalSequence analysisAdd BLAST21
Topological domaini1145LumenalCurated1
Transmembranei1146 – 1166HelicalSequence analysisAdd BLAST21
Topological domaini1167 – 1194CytoplasmicCuratedAdd BLAST28
Transmembranei1195 – 1215HelicalSequence analysisAdd BLAST21
Topological domaini1216 – 1226LumenalCuratedAdd BLAST11
Transmembranei1227 – 1247HelicalSequence analysisAdd BLAST21
Topological domaini1248 – 1277CytoplasmicCuratedAdd BLAST30

Keywords - Cellular componenti

Endosome, Lysosome, 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in Npc1 cause a lysosomal storage disorder characterized by accumulation of cholesterol in lysosomes and impaired cholesterol homeostasis. Causes age-dependent loss of Purkinje cells, loss of body weight and leads then to ataxia and premature death at a median age of 72 days.2 Publications

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>Mutagenesisi202 – 203PF → AA: Loss of function giving rise to cholesterol accumulation in kidney, liver, lung and spleen. No effect on lysosomal location. Mice display age-dependent weight loss, neurodegeneration with loss of Purkinje cells, ataxia and premature death at a median age of 84 days. 1 Publication2
Mutagenesisi378V → A: No effect on affinity for NPC2. 1 Publication1
Mutagenesisi404R → Q: Decreased affinity for NPC2. 1 Publication1
Mutagenesisi421E → A: Strongly decreased affinity for NPC2; when associated with 503-A-A-504. 1 Publication1
Mutagenesisi502 – 504DFY → AAA: Strongly decreased affinity for NPC2. 1 Publication3
Mutagenesisi503 – 504FY → AA: Decreased affinity for NPC2. Loss of function in cholesterol transport. No effect on subcellular location. Strongly decreased affinity for NPC2; when associated with A-421. 1 Publication2
Mutagenesisi518R → Q: Strongly decreased affinity for NPC2. No effect on lysosomal location. 1 Publication1
Mutagenesisi1005D → G in Npc1-nmf164; strongly decreased protein levels. Causes abnormal lipid storage in the spleen and liver, loss of cerebellar Purkinje cells and age-dependent ataxia. 1 Publication1

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2321610

<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 – 22Sequence analysisAdd BLAST22
<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_000002326223 – 1277NPC intracellular cholesterol transporter 1Add BLAST1255

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 bondi25 ↔ 74By similarity
Disulfide bondi31 ↔ 42By similarity
Disulfide bondi63 ↔ 109By similarity
<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>Glycosylationi70N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi75 ↔ 113By similarity
Disulfide bondi97 ↔ 238By similarity
Disulfide bondi100 ↔ 160By similarity
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi137N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi177 ↔ 184By similarity
Glycosylationi185N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi222N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi227 ↔ 243By similarity
Glycosylationi228N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi240 ↔ 247By similarity
Glycosylationi414N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi459N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi468 ↔ 479By similarity
Glycosylationi478N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi516 ↔ 533By similarity
Glycosylationi524N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi868N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi898N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi909 ↔ 914By similarity
Glycosylationi916N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi956 ↔ 1011By similarity
Disulfide bondi957 ↔ 979By similarity
Glycosylationi961N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi967 ↔ 976By similarity
Glycosylationi968N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1063N-linked (GlcNAc...) asparagineSequence analysis1

<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

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O35604

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O35604

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

More...
PaxDbi
O35604

PeptideAtlas

More...
PeptideAtlasi
O35604

PRoteomics IDEntifications database

More...
PRIDEi
O35604

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O35604

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

More...
PhosphoSitePlusi
O35604

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O35604

<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

Detected in liver (at protein level) (PubMed:21896731, PubMed:22048958). Ubiquitous (PubMed:9211850). Detected in adult heart, spleen, lung, liver, skeletal muscle, kidney, testis (PubMed:9211850).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000024413 Expressed in 282 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...
CleanExi
MM_NPC1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O35604 MM

<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 (via the second lumenal domain) with NPC2 (PubMed:22065762, PubMed:27551080). Interacts with TMEM97. Interacts with TIM1 (By similarity).By similarity2 Publications

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000025279

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O35604

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

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SMRi
O35604

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>Domaini620 – 785SSDPROSITE-ProRule annotationAdd BLAST166

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni175 – 205Important for cholesterol binding and cholesterol transfer from NPC1 to liposomesBy similarityAdd BLAST31
Regioni1274 – 1277Required for location in lysosomesBy similarity4

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1274 – 1277Di-leucine motifCurated4

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 biasi249 – 259Poly-ProAdd BLAST11

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.By similarity

<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
ENSGT00940000156182

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
O35604

KEGG Orthology (KO)

More...
KOi
K12385

Identification of Orthologs from Complete Genome Data

More...
OMAi
YYFRMWL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00JD

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
IPR004765 NPC1-like
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

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00917 2A060601, 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>Sequencei

<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.

O35604-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGAHHPALGL LLLLLCPAQV FSQSCVWYGE CGIATGDKRY NCKYSGPPKP
60 70 80 90 100
LPKDGYDLVQ ELCPGLFFDN VSLCCDIQQL QTLKSNLQLP LQFLSRCPSC
110 120 130 140 150
FYNLMTLFCE LTCSPHQSQF LNVTATEDYF DPKTQENKTN VKELEYFVGQ
160 170 180 190 200
SFANAMYNAC RDVEAPSSNE KALGLLCGRD ARACNATNWI EYMFNKDNGQ
210 220 230 240 250
APFTIIPVFS DLSILGMEPM RNATKGCNES VDEVTGPCSC QDCSIVCGPK
260 270 280 290 300
PQPPPPPMPW RIWGLDAMYV IMWVTYVAFL FVFFGALLAV WCHRRRYFVS
310 320 330 340 350
EYTPIDSNIA FSVNSSDKGE ASCCDPLGAA FDDCLRRMFT KWGAFCVRNP
360 370 380 390 400
TCIIFFSLAF ITVCSSGLVF VQVTTNPVEL WSAPHSQARL EKEYFDKHFG
410 420 430 440 450
PFFRTEQLII QAPNTSVHIY EPYPAGADVP FGPPLNKEIL HQVLDLQIAI
460 470 480 490 500
ESITASYNNE TVTLQDICVA PLSPYNKNCT IMSVLNYFQN SHAVLDSQVG
510 520 530 540 550
DDFYIYADYH THFLYCVRAP ASLNDTSLLH GPCLGTFGGP VFPWLVLGGY
560 570 580 590 600
DDQNYNNATA LVITFPVNNY YNDTERLQRA WAWEKEFISF VKNYKNPNLT
610 620 630 640 650
ISFTAERSIE DELNRESNSD VFTVIISYVV MFLYISLALG HIQSCSRLLV
660 670 680 690 700
DSKISLGIAG ILIVLSSVAC SLGIFSYMGM PLTLIVIEVI PFLVLAVGVD
710 720 730 740 750
NIFILVQTYQ RDERLQEETL DQQLGRILGE VAPTMFLSSF SETSAFFFGA
760 770 780 790 800
LSSMPAVHTF SLFAGMAVLI DFLLQITCFV SLLGLDIKRQ EKNHLDILCC
810 820 830 840 850
VRGADDGQGS HASESYLFRF FKNYFAPLLL KDWLRPIVVA VFVGVLSFSV
860 870 880 890 900
AVVNKVDIGL DQSLSMPNDS YVIDYFKSLA QYLHSGPPVY FVLEEGYNYS
910 920 930 940 950
SRKGQNMVCG GMGCDNDSLV QQIFNAAELD TYTRVGFAPS SWIDDYFDWV
960 970 980 990 1000
SPQSSCCRLY NVTHQFCNAS VMDPTCVRCR PLTPEGKQRP QGKEFMKFLP
1010 1020 1030 1040 1050
MFLSDNPNPK CGKGGHAAYG SAVNIVGDDT YIGATYFMTY HTILKTSADY
1060 1070 1080 1090 1100
TDAMKKARLI ASNITETMRS KGSDYRVFPY SVFYVFYEQY LTIIDDTIFN
1110 1120 1130 1140 1150
LSVSLGSIFL VTLVVLGCEL WSAVIMCITI AMILVNMFGV MWLWGISLNA
1160 1170 1180 1190 1200
VSLVNLVMSC GISVEFCSHI TRAFTMSTKG SRVSRAEEAL AHMGSSVFSG
1210 1220 1230 1240 1250
ITLTKFGGIV VLAFAKSQIF EIFYFRMYLA MVLLGATHGL IFLPVLLSYI
1260 1270
GPSVNKAKRH TTYERYRGTE RERLLNF
Length:1,277
Mass (Da):142,885
Last modified:February 6, 2013 - 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:i3B42230AAC86764E
GO

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 conflicti9G → GL in AAB63372 (PubMed:9211850).Curated1
Sequence conflicti135Q → P in AAB63372 (PubMed:9211850).Curated1
Sequence conflicti147F → Y in AAB63372 (PubMed:9211850).Curated1
Sequence conflicti445D → N in AAB63372 (PubMed:9211850).Curated1
Sequence conflicti478N → D in AAB63373 (PubMed:9211850).Curated1
Sequence conflicti874 – 875DY → AN in AAB63372 (PubMed:9211850).Curated2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF003348 mRNA Translation: AAB63372.1
AF003349 Genomic DNA Translation: AAB63373.1
AC102096 Genomic DNA No translation available.
AC102248 Genomic DNA No translation available.
CH466622 Genomic DNA Translation: EDL01560.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS29064.1

Protein sequence database of the Protein Information Resource

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PIRi
T30188

NCBI Reference Sequences

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RefSeqi
NP_032746.2, NM_008720.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Mm.3484

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENSMUST00000025279; ENSMUSP00000025279; ENSMUSG00000024413

Database of genes from NCBI RefSeq genomes

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GeneIDi
18145

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
mmu:18145

UCSC genome browser

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UCSCi
uc008ecb.1 mouse

<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
AF003348 mRNA Translation: AAB63372.1
AF003349 Genomic DNA Translation: AAB63373.1
AC102096 Genomic DNA No translation available.
AC102248 Genomic DNA No translation available.
CH466622 Genomic DNA Translation: EDL01560.1
CCDSiCCDS29064.1
PIRiT30188
RefSeqiNP_032746.2, NM_008720.2
UniGeneiMm.3484

3D structure databases

ProteinModelPortaliO35604
SMRiO35604
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000025279

Chemistry databases

ChEMBLiCHEMBL2321610
SwissLipidsiSLP:000000479

PTM databases

iPTMnetiO35604
PhosphoSitePlusiO35604
SwissPalmiO35604

Proteomic databases

EPDiO35604
MaxQBiO35604
PaxDbiO35604
PeptideAtlasiO35604
PRIDEiO35604

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000025279; ENSMUSP00000025279; ENSMUSG00000024413
GeneIDi18145
KEGGimmu:18145
UCSCiuc008ecb.1 mouse

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4864
MGIiMGI:1097712 Npc1

Phylogenomic databases

eggNOGiKOG1933 Eukaryota
ENOG410XR54 LUCA
GeneTreeiENSGT00940000156182
HOGENOMiHOG000036674
HOVERGENiHBG003913
InParanoidiO35604
KOiK12385
OMAiYYFRMWL
OrthoDBiEOG091G00JD
TreeFamiTF300416

Enzyme and pathway databases

ReactomeiR-MMU-8964038 LDL clearance

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
Npc1 mouse

Protein Ontology

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PROi
PR:O35604

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000024413 Expressed in 282 organ(s), highest expression level in secondary oocyte
CleanExiMM_NPC1
GenevisibleiO35604 MM

Family and domain databases

InterProiView protein in InterPro
IPR004765 NPC1-like
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
TIGRFAMsiTIGR00917 2A060601, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiNPC1_MOUSE
<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: O35604
Secondary accession number(s): G3X8W9, O35605
<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: May 30, 2000
Last sequence update: February 6, 2013
Last modified: December 5, 2018
This is version 145 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

<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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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