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Entry version 8 (08 May 2019)
Sequence version 1 (20 Jun 2018)
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Protein
Submitted name:

Niemann-Pick disease, type C1

Gene

npc1

Organism
Danio rerio (Zebrafish) (Brachydanio rerio)
Status
Unreviewed-Annotation score:

Annotation score:3 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

<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>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
Submitted name:
Niemann-Pick disease, type C1Imported
<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>OrganismiDanio rerio (Zebrafish) (Brachydanio rerio)Imported
<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 identifieri7955 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiActinopterygiiNeopterygiiTeleosteiOstariophysiCypriniformesCyprinidaeDanio
<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
  • UP000000437 <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 2

Organism-specific databases

Zebrafish Information Network genome database

More...
ZFINi
ZDB-GENE-030131-3161 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

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 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>Transmembranei269 – 292HelicalSequence analysisAdd BLAST24
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei623 – 644HelicalSequence analysisAdd BLAST22
Transmembranei656 – 680HelicalSequence analysisAdd BLAST25
Transmembranei686 – 708HelicalSequence analysisAdd BLAST23
Transmembranei729 – 750HelicalSequence analysisAdd BLAST22
Transmembranei762 – 787HelicalSequence analysisAdd BLAST26
Transmembranei1098 – 1116HelicalSequence analysisAdd BLAST19
Transmembranei1123 – 1144HelicalSequence analysisAdd BLAST22
Transmembranei1150 – 1168HelicalSequence analysisAdd BLAST19
Transmembranei1189 – 1215HelicalSequence analysisAdd BLAST27
Transmembranei1227 – 1250HelicalSequence analysisAdd BLAST24

<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>Keywords - Cellular componenti

Membrane

<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 – 25Sequence analysisAdd BLAST25
<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_501533354826 – 1277Sequence analysisAdd BLAST1252

<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

Gene expression databases

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A0A2R8Q2J0 baseline

<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>Domaini622 – 787SSDInterPro annotationAdd BLAST166

Keywords - Domaini

SignalSequence analysis, Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156182

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>Sequence (1+)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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

A0A2R8Q2J0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLLGRNHIF RLLLATVLLS HWVHGQHCIW YGECGNSPNV PEKKLNCNYT
60 70 80 90 100
GPAVPLPNEG QELLQELCPR LVYADNRVCC DTQQLNTLKS NIQIPLQYLS
110 120 130 140 150
RCPACFFNFM TLFCELTCSP RQSQFISVKD FLKEKNQTSV GNVTYYITQT
160 170 180 190 200
FADAMFNACR DVQAPSSNIK ALGLLCGRDA SVCTPQIWIQ YMFSISNGQV
210 220 230 240 250
PFGIEPIFTD VPVQGMTPMN NRTFNCSQSL DDGSEPCSCQ DCSEVCGPTP
260 270 280 290 300
VPPPIPPPWI ILGLDAMSFI MWCSYIAFLL IFFGVVLGAW CYRRSVVTSE
310 320 330 340 350
YGPILDSNQP HSLNSDGTDL IDEASCCETV GERFENSLRL VFSRWGSLCV
360 370 380 390 400
RQPLTIILSS LVLICICSAG LSYMRITTNP VELWSAPSSR ARQEKNYFDQ
410 420 430 440 450
HFGPFFRTEQ LIITTPWTEE GGFSTITGDI IPFSPILNLS LLHQVLDLQL
460 470 480 490 500
EIENLIAEYK GENVTLKDIC VSPLSPYNDN CTILSVLNYF QNSHEVLDHE
510 520 530 540 550
FQDEFFLYND YHTHLLYCAS SPTSLDDTSR LHDPCMGTFG GPVFPWLVLG
560 570 580 590 600
GYEDSAYNNA TALVITFPVT NYLNDTEKLG KALAWEKEFI RFMKNYENPN
610 620 630 640 650
LTVSFSSERS IEDEIDRESN SDVSTIVISY IIMFVYISVA LGRINSCRTL
660 670 680 690 700
LVDSKISLGI AGILIVLSSV ACSLGIFSYI GIPLTLIVIE VIPFLVLAVG
710 720 730 740 750
VDNIFIIVQT YQRDERMPEE ELHQQIGRIL GDVAPSMFLS SFSETVAFFL
760 770 780 790 800
GALSTMPAVR TFSLFAGLAI FIDFLLQISC FVSLLGLDIK RQEANRMDIL
810 820 830 840 850
CCVKLSDGQE EKSEGWLFRF FKKIYAPFIL KDWVRPLVVA VFVGMLSFSI
860 870 880 890 900
AVVNKVEIGL EQTLSMPDDS YVLNYFGNLS KYLHTGPPVY FVVEDGHDYK
910 920 930 940 950
TFEGQNAVCG GVGCNNDSLV QQIYTASLMS NYTRISNVPS SWLDDYFDWV
960 970 980 990 1000
KPQSTCCRYY NSTGAFCNAS VVDKSCVHCR PMTSSGKQRP NGTEFMHFLP
1010 1020 1030 1040 1050
MFLSDNPNIK CGKGGHAAYG TAVDLKDNNT DVGATYFMSY HTILKNSSDF
1060 1070 1080 1090 1100
INAMKMAREL TDNITQTLST HDKSYKVFPY SVFYVFYEQY LTIVDDTALN
1110 1120 1130 1140 1150
LGVSLSAIFI VTAVLLGFEL WSAVLVCFTI AMILINMFGV MWLWSISLNA
1160 1170 1180 1190 1200
VSLVNLVMSC GISVEFCSHI VRAFSISTRS SRVERAEEAL AHMGSSVFSG
1210 1220 1230 1240 1250
ITLTKFGGIL ILALSKSQIF QIFYFRMYLA IVLLGAAHGL IFLPVLLSYA
1260 1270
GKSLSPRTFM ICLEAVVHLK HLKTRHH
Length:1,277
Mass (Da):142,904
Last modified:June 20, 2018 - 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:i09BCECFA3B8ECDA4
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
F1QNG7F1QNG7_DANRE
Niemann-Pick disease, type C1
npc1
1,276Annotation score:

Annotation score:3 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>
A0A0R4IZV0A0A0R4IZV0_DANRE
Niemann-Pick disease, type C1
npc1
1,271Annotation score:

Annotation score:3 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>

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
FP236166 Genomic DNA No translation available.
FP245481 Genomic DNA No translation available.

NCBI Reference Sequences

More...
RefSeqi
XP_005163715.1, XM_005163658.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENSDART00000185408; ENSDARP00000144951; ENSDARG00000017180

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
553330

<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
FP236166 Genomic DNA No translation available.
FP245481 Genomic DNA No translation available.
RefSeqiXP_005163715.1, XM_005163658.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSDART00000185408; ENSDARP00000144951; ENSDARG00000017180
GeneIDi553330

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4864
ZFINiZDB-GENE-030131-3161 npc1

Phylogenomic databases

GeneTreeiENSGT00940000156182

Gene expression databases

ExpressionAtlasiA0A2R8Q2J0 baseline

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

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 nameiA0A2R8Q2J0_DANRE
<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: A0A2R8Q2J0
<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/TrEMBL: June 20, 2018
Last sequence update: June 20, 2018
Last modified: May 8, 2019
This is version 8 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 statusiUnreviewed (UniProtKB/TrEMBL)

<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, Proteomics identificationCombined sources, Reference proteomeImported
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