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UniProtKB - P61916 (NPC2_HUMAN)

Entry version 161 (07 Apr 2021)
Sequence version 1 (07 Jun 2004)
Previous versions | rss
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Protein

NPC intracellular cholesterol transporter 2

Gene

NPC2

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

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).By similarity7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P61916

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798695, Neutrophil degranulation
R-HSA-8964038, LDL clearance

SIGNOR Signaling Network Open Resource

More...SIGNORi		P61916

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.6.6.1, the resistance-nodulation-cell division (rnd) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000475

<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%5Fand%5Ftaxonomy%5Fsection">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 2Imported
Alternative name(s):
Epididymal secretory protein E1
Human epididymis-specific protein 1
Short name:
He12 Publications
Niemann-Pick disease type C2 protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NPC2Imported
Synonyms:HE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14537, NPC2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601015, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P61916

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000119655.8

<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

Keywords - Cellular componenti

Endoplasmic reticulum, Lysosome, Secreted

<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

Niemann-Pick disease C2 (NPC2)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.
Related information in OMIM
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_04330330V → M in NPC2. 1 PublicationCorresponds to variant dbSNP:rs151220873EnsemblClinVar.1
Natural variantiVAR_01584839V → M in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes. 2 PublicationsCorresponds to variant dbSNP:rs80358261EnsemblClinVar.1
Natural variantiVAR_04330447C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs1555345993EnsemblClinVar.1
Natural variantiVAR_01584967S → P in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs11694EnsemblClinVar.1
Natural variantiVAR_04330593C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs143960270Ensembl.1
Natural variantiVAR_04330699C → R in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 PublicationCorresponds to variant dbSNP:rs80358264EnsemblClinVar.1
Natural variantiVAR_043307120P → S in NPC2; unable to bind cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs104894458EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Niemann-Pick disease

Organism-specific databases

DisGeNET

More...DisGeNETi		10577

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NPC2

MalaCards human disease database

More...MalaCardsi		NPC2
MIMi607625, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119655

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

More...Orphaneti		216986, Niemann-Pick disease type C, adult neurologic onset
216981, Niemann-Pick disease type C, juvenile neurologic onset
216978, Niemann-Pick disease type C, late infantile neurologic onset
216975, Niemann-Pick disease type C, severe early infantile neurologic onset
216972, Niemann-Pick disease type C, severe perinatal form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31700

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P61916, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NPC2

Domain mapping of disease mutations (DMDM)

More...DMDMi		48429027

<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 – 192 PublicationsAdd BLAST19
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001985420 – 151NPC intracellular cholesterol transporter 2Add BLAST132

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 bondi27 ↔ 140Combined sources1 Publication
Disulfide bondi42 ↔ 47Combined sources1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi58N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Disulfide bondi93 ↔ 99Combined sources1 Publication
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei116N6-acetyllysineBy similarity1
Glycosylationi135N-linked (GlcNAc...) asparagineCombined sources3 Publications1

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P61916

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P61916

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P61916

MaxQB - The MaxQuant DataBase

More...MaxQBi		P61916

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

More...PaxDbi		P61916

PeptideAtlas

More...PeptideAtlasi		P61916

PRoteomics IDEntifications database

More...PRIDEi		P61916

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4905
57337 [P61916-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P61916-2 [P61916-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1215, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P61916, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P61916

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P61916

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

More...PhosphoSitePlusi		P61916

<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 gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.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

Down-regulated in response to enterovirus 71 (EV71) infection.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119655, Expressed in corpus epididymis and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P61916, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P61916, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119655, Tissue enriched (epididymis)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (PubMed:18772377, PubMed:27238017, PubMed:27551080).

Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking (PubMed:19723497).

Interacts with DHDDS (PubMed:15110773).

Interacts with NEDD4L (via C2 domain) (PubMed:19664597).

Interacts with NPC1L1 (PubMed:22095670).

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115828, 32 interactors

Protein interaction database and analysis system

More...IntActi		P61916, 19 interactors

Molecular INTeraction database

More...MINTi		P61916

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000451112

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P61916, protein

<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

1151
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P61916

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

<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

Binds cholesterol in a hydrophobic pocket; there are no hydrogen bonds between the sterol and the protein.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 NPC2 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4063, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000006223

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P61916

Database for complete collections of gene phylogenies

More...PhylomeDBi		P61916

TreeFam database of animal gene trees

More...TreeFami		TF317963

Family and domain databases

Conserved Domains Database

More...CDDi		cd00916, Npc2_like, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014756, Ig_E-set
IPR003172, ML_dom
IPR033916, ML_Npc2-like
IPR039670, NPC2-like

The PANTHER Classification System

More...PANTHERi		PTHR11306, PTHR11306, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02221, E1_DerP2_DerF2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00737, ML, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF81296, SSF81296, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P61916-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS 
        60         70         80         90        100
KGQSYSVNVT FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP 
       110        120        130        140        150
IQKDKTYSYL NKLPVKSEYP SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH 

L
Length:151
Mass (Da):16,570
Last modified:June 7, 2004 - v1
<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:iB141B611805DC910
GO
Isoform 2 (identifier: P61916-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     122-147: Missing.

Show »
Length:125
Mass (Da):13,416
Checksum:iE94FCACA6B6691FE
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V3D1G3V3D1_HUMAN
Epididymal secretory protein E1
NPC2
221Annotation score:

Annotation score:2 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>
G3V3E8G3V3E8_HUMAN
Epididymal secretory protein E1
NPC2
174Annotation score:

Annotation score:2 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>
E7EMS2E7EMS2_HUMAN
Epididymal secretory protein E1
NPC2
201Annotation score:

Annotation score:2 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>
G3V2V8G3V2V8_HUMAN
Epididymal secretory protein E1
NPC2
122Annotation score:

Annotation score:2 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>
J3KMY5J3KMY5_HUMAN
Epididymal secretory protein E1
NPC2
148Annotation score:

Annotation score:2 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>
H0YIZ1H0YIZ1_HUMAN
Epididymal secretory protein E1
NPC2
173Annotation score:

Annotation score:2 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>
H0YJE2H0YJE2_HUMAN
NPC intracellular cholesterol trans...
NPC2
53Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04330330V → M in NPC2. 1 PublicationCorresponds to variant dbSNP:rs151220873EnsemblClinVar.1
Natural variantiVAR_01584839V → M in NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes. 2 PublicationsCorresponds to variant dbSNP:rs80358261EnsemblClinVar.1
Natural variantiVAR_04330447C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs1555345993EnsemblClinVar.1
Natural variantiVAR_01584967S → P in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs11694EnsemblClinVar.1
Natural variantiVAR_01189986P → L. Corresponds to variant dbSNP:rs4688Ensembl.1
Natural variantiVAR_04330593C → F in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 2 PublicationsCorresponds to variant dbSNP:rs143960270Ensembl.1
Natural variantiVAR_04330699C → R in NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells. 1 PublicationCorresponds to variant dbSNP:rs80358264EnsemblClinVar.1
Natural variantiVAR_043307120P → S in NPC2; unable to bind cholesterol. 2 PublicationsCorresponds to variant dbSNP:rs104894458EnsemblClinVar.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056459122 – 147Missing in isoform 2. 1 PublicationAdd BLAST26

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
X67698 mRNA Translation: CAA47928.1
AK298975 mRNA Translation: BAG61069.1
AC005479 Genomic DNA No translation available.
BC002532 mRNA Translation: AAH02532.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32121.1 [P61916-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I38365

NCBI Reference Sequences

More...RefSeqi		NP_006423.1, NM_006432.3 [P61916-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000541064; ENSP00000442488; ENSG00000119655 [P61916-2]
ENST00000555619; ENSP00000451112; ENSG00000119655 [P61916-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10577

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10577

UCSC genome browser

More...UCSCi		uc001xpy.4, human [P61916-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X67698 mRNA Translation: CAA47928.1
AK298975 mRNA Translation: BAG61069.1
AC005479 Genomic DNA No translation available.
BC002532 mRNA Translation: AAH02532.1
CCDSiCCDS32121.1 [P61916-1]
PIRiI38365
RefSeqiNP_006423.1, NM_006432.3 [P61916-1]

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
5KWYX-ray2.40C/D20-151[»]
6W5Velectron microscopy4.00D1-151[»]
SMRiP61916
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115828, 32 interactors
IntActiP61916, 19 interactors
MINTiP61916
STRINGi9606.ENSP00000451112

Chemistry databases

SwissLipidsiSLP:000000475

Protein family/group databases

TCDBi2.A.6.6.1, the resistance-nodulation-cell division (rnd) superfamily

PTM databases

GlyConnecti1215, 2 N-Linked glycans (1 site)
GlyGeniP61916, 2 sites
iPTMnetiP61916
MetOSiteiP61916
PhosphoSitePlusiP61916

Genetic variation databases

BioMutaiNPC2
DMDMi48429027

Proteomic databases

EPDiP61916
jPOSTiP61916
MassIVEiP61916
MaxQBiP61916
PaxDbiP61916
PeptideAtlasiP61916
PRIDEiP61916
ProteomicsDBi4905
57337 [P61916-1]
TopDownProteomicsiP61916-2 [P61916-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		88, 308 antibodies

The DNASU plasmid repository

More...DNASUi		10577

Genome annotation databases

EnsembliENST00000541064; ENSP00000442488; ENSG00000119655 [P61916-2]
ENST00000555619; ENSP00000451112; ENSG00000119655 [P61916-1]
GeneIDi10577
KEGGihsa:10577
UCSCiuc001xpy.4, human [P61916-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10577
DisGeNETi10577

GeneCards: human genes, protein and diseases

More...GeneCardsi		NPC2
GeneReviewsiNPC2
HGNCiHGNC:14537, NPC2
HPAiENSG00000119655, Tissue enriched (epididymis)
MalaCardsiNPC2
MIMi601015, gene
607625, phenotype
neXtProtiNX_P61916
OpenTargetsiENSG00000119655
Orphaneti216986, Niemann-Pick disease type C, adult neurologic onset
216981, Niemann-Pick disease type C, juvenile neurologic onset
216978, Niemann-Pick disease type C, late infantile neurologic onset
216975, Niemann-Pick disease type C, severe early infantile neurologic onset
216972, Niemann-Pick disease type C, severe perinatal form
PharmGKBiPA31700
VEuPathDBiHostDB:ENSG00000119655.8

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4063, Eukaryota
GeneTreeiENSGT00390000006223
InParanoidiP61916
PhylomeDBiP61916
TreeFamiTF317963

Enzyme and pathway databases

PathwayCommonsiP61916
ReactomeiR-HSA-6798695, Neutrophil degranulation
R-HSA-8964038, LDL clearance
SIGNORiP61916

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10577, 17 hits in 1012 CRISPR screens

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

More...ChiTaRSi		NPC2, human

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

More...GenomeRNAii		10577
PharosiP61916, Tbio

Protein Ontology

More...PROi		PR:P61916
RNActiP61916, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119655, Expressed in corpus epididymis and 242 other tissues
ExpressionAtlasiP61916, baseline and differential
GenevisibleiP61916, HS

Family and domain databases

CDDicd00916, Npc2_like, 1 hit
InterProiView protein in InterPro
IPR014756, Ig_E-set
IPR003172, ML_dom
IPR033916, ML_Npc2-like
IPR039670, NPC2-like
PANTHERiPTHR11306, PTHR11306, 1 hit
PfamiView protein in Pfam
PF02221, E1_DerP2_DerF2, 1 hit
SMARTiView protein in SMART
SM00737, ML, 1 hit
SUPFAMiSSF81296, SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiNPC2_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: P61916
Secondary accession number(s): B4DQV7, Q15668, Q29413
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: April 7, 2021
This is version 161 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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