NPC1 Gene
protein-coding GIFtS: 66
GCID: GC18M021111
|
|
Niemann-Pick disease, type C1
| |
Aliases
for NPC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Niemann-Pick Disease, Type C11 2 | | NPC2 5 | | Niemann-Pick C1 Protein2 |
Export aliases for NPC1 gene to outside databasesPrevious GC identifers: GC18M021004 GC18M020843 GC18M019363 GC18M019365 GC18M017967 |
Summaries
for NPC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NPC1:
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have acytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop beingat the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments wherethey are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rareautosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol andglycosphingolipids in late endosomal/lysosomal compartments.(provided by RefSeq, Aug 2009)
UniProtKB/Swiss-Prot: NPC1_HUMAN, O15118Function: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in theegress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag teamduo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE)to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been releasedfrom LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of theN-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknownmechanism. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, aprocess that may be crucial for maintaining the structural and functional integrity of nerve terminals
Gene Wiki entry for NPC1
|
Genomic Views
for NPC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000018.9 NC_018929.1 NT_010966.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NPC1 gene promoter:
CREB ATF-2 deltaCREB STAT3 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for NPC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 18q11.2 Ensembl cytogenetic band: 18q11.2 HGNC cytogenetic band: 18q11.2NPC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18M021111: view genomic region
(about GC identifiers)
Start:
|
21,086,307 bp from pter |
End:
|
21,166,862 bp from pter |
Size:
|
80,556 bases |
Orientation:
|
minus strand |
|
Proteins
for NPC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NPC1_HUMAN, O15118 (See
protein sequence)Recommended Name: Niemann-Pick C1 protein precursor Size: 1278 amino acids; 142167 Da
Subunit: Interacts with TMEM97. Interacts (via the second lumenal domain) with NPC2 in a cholestrol-dependent manner(By similarity)
Subcellular location: Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membraneprotein
3 PDB 3D structures from  and Proteopedia  for NPC1:3GKH (3D)
3GKI (3D)
3GKJ (3D)
Secondary accessions: Q9P130Explore the universe of human proteins at neXtProt for NPC1: NX_O15118
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15118
NPC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000262.2
ENSEMBL proteins: ENSP00000468438 ENSP00000464755 ENSP00000467150 ENSP00000468321 ENSP00000269228 ENSP00000467636 ENSP00000408606
Human Recombinant Protein Products:
Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table
NPC1 for ontologies About GeneDecksing
NPC1 Antibody Products:
Assay Products for NPC1: |
Protein
Domains /
Families
for NPC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NPC1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O15118ProtoNet protein and cluster: O15118 1 Blocks protein family: IPB003392 Patched family
UniProtKB/Swiss-Prot: NPC1_HUMAN, O15118Domain: A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomaltargeting are critical for mobilization of cholesterol from lysosomesSimilarity: Belongs to the patched familySimilarity: Contains 1 SSD (sterol-sensing) domain |
Function
for NPC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NPC1_HUMAN, O15118Function: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in theegress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag teamduo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE)to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been releasedfrom LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of theN-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknownmechanism. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, aprocess that may be crucial for maintaining the structural and functional integrity of nerve terminals Genatlas biochemistry entry for NPC1:glycoprotein regulator of intracellular cholesterol trafficking,predominantly expressed in perisynaptic astrocyticglial processes,homolog to the mediators of cholesterol homeostasis and to the TM region of Drosophila patched
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NPC1 (NM_001812) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NPC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
NPC1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Npc1tm1.2Apl for NPC1
14 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Npc1):
NPC1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NPC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) | | | 2 | Lysosome | | | 3 | Cholesterol and Sphingolipids transport / Generic schema (normal and CF) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  GeneGo (Thomson Reuters) Pathways for NPC1
1 
Kegg Pathway (Kegg details for NPC1):
NPC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
5/46 Interacting proteins for NPC1 (O151183 ENSP000002692284) via UniProtKB, MINT, STRING, and/or I2D (see all 46)About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table
NPC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for NPC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
NPC1 for compounds About GeneDecksing
 Browse Tocris compounds for NPC1
10/15 Novoseek chemical compound relationships for NPC1 gene (see all 15) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| u18666a |
91.5 |
14 |
10666334 (2), 12622792 (2), 11251074 (2), 19007772 (2) (see all 7) |
| cholesterol |
80.3 |
270 |
16757520 (7), 18272927 (5), 19884502 (5), 18060319 (5) (see all 99) |
| sterol |
76.7 |
48 |
15908696 (5), 12398991 (4), 15030792 (2), 17804599 (2) (see all 21) |
| filipin |
69.6 |
1 |
12606053 (1) |
| lipid |
58.3 |
40 |
19131362 (5), 11249924 (2), 15071184 (2), 16757520 (2) (see all 27) |
| mannose 6-phosphate |
49.9 |
3 |
12622792 (1), 10092649 (1), 10662671 (1) |
| glycolipid |
47.4 |
5 |
14989468 (1), 16606609 (1), 12955717 (1), 12398991 (1) (see all 5) |
| ganglioside |
46.9 |
3 |
9533562 (1), 14989468 (1), 12622792 (1) |
| 3-hydroxy-3-methylglutaryl-coa |
38.3 |
1 |
15908696 (1) |
| progesterone |
21.5 |
10 |
10942596 (4), 10666334 (1), 12622792 (1), 16141411 (1) (see all 6) |
Search CenterWatch for drugs/clinical trials and news about NPC1
|
Transcripts
for NPC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NPC1 gene: NM_000271.4 Unigene Cluster for NPC1: Niemann-Pick disease, type C1 Hs.715623 [show with all ESTs]Unigene Representative Sequence: NM_00027115 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000591107 ENST00000590723 ENST00000593280 ENST00000586150 ENST00000269228(uc010xaz.2 uc002kum.4 uc010xba.1)
ENST00000588867 ENST00000591051 ENST00000587163 ENST00000591955 ENST00000591075
ENST00000540608 ENST00000586718 ENST00000590301 ENST00000587223 ENST00000412552(uc010dlu.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NPC1 (NM_001812) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NPC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC1 |
Additional cDNA sequence: AB209048.1 AF002020.1 AK293779.1 AK295715.1 AK308491.1 BC063302.1 19 DOTS entries: DT.85105210 DT.101973162 DT.452149 DT.75151404 DT.101972222 DT.92436237 DT.430621 DT.75131169 DT.92436240 DT.319095 DT.92436239 DT.121085237 DT.100816569 DT.100816575 DT.452148 DT.92436243 DT.75129934 DT.95199082 DT.97847519 24/254 AceView cDNA sequences (see all 254): AV709111 AL046206 AI627989 BU630755 CD672293 BU629678 CA443474 BM670707 CD515858 BM671597 N52602 CA417094 BM710173 AA631993 BU679425 BQ430569 CA438246 AA953265 CA416741 BM670839 CB158050 AW369350 BG674759 BF589894
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for NPC1 (see all 13) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19b | · | 19c | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23a | · | 23b | · | 23c | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for NPC1
|
Expression
for NPC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NPC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATGAGGGA
About this image
See NPC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NPC1
SOURCE GeneReport for Unigene cluster: Hs.715623
SABiosciences Expression via Pathway-Focused PCR Arrays including NPC1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NPC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC1 |
Orthologs
for NPC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NPC1 gene from 8/32 species (see all 32) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
NPC11 |
Niemann-Pick disease, type C1 |
74.11(n)
78.93(a) |
|
421076 XM_419162.3 XP_419162.3 |
lizard
(Anolis carolinensis) |
Reptilia |
NPC16 |
-- |
79(a) |
1 ↔ 1 |
4(38225663-38260674) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BG731241.12 |
-- |
73.76(n) |
|
BG731241.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc29a122 |
wufc29a12 |
78.01(n) |
|
324441 CK030245.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
NPC13
Npc1a1 |
Niemann-Pick type C-1a1 |
43(a)
(best of 2)3
51.81(n)1
46.87(a)1 |
|
31B13
343581 NM_135513.41 NP_609357.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
NCR1(YPL006W)4
NCR11 |
Vacuolar membrane protein that transits through the more4
Ncr1p1 |
45.43(n)1
36.84(a)1 |
|
16(544631-548143)4
8561011, 4 NP_015319.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT4G383501 |
Patched family protein |
48.19(n)
40.38(a) |
|
829992 NM_001204024.1 NP_001190953.1 |
rice
(Oryza sativa) |
Liliopsida |
-- |
niemann-Pick C1 protein precursor, putative, expre... |
31(a) |
1 → many |
4(28039361-28055686) |
ENSEMBL Gene Tree for NPC1 (if available)
TreeFam Gene Tree for NPC1 (if available) |
Paralogs
for NPC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NPC1 gene
- PTCH12 NPC1L12 PTCHD32 PTCH22 PTCHD12 PTCHD42
2 SIMAP similar genes for NPC1 using alignment to 7 protein entries: NPC1_HUMAN (see all proteins):PTCH NPC1L1
NPC1 for paralogs About GeneDecksing
|
Genomic Variants
for NPC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 18 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NPC1 (21086307 - 21166862 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NPC1
1 CNV: 47911
Human Gene Mutation Database (HGMD): NPC1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPC1 |
|
Disorders
/ Diseases
for NPC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NPC1 for disorders About GeneDecksing
OMIM gene information: 607623
OMIM disorders: 257220
UniProtKB/Swiss-Prot: NPC1_HUMAN, O15118
Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1) [MIM:257220]. A lysosomal storagedisorder that affects the viscera and the central nervous system. It is due to defective intracellular processing andtransport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, withdelayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinicalphenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction suchas ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant ofNiemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinicalvariant are less severely affected
20/34  diseases for NPC1 (see all 34): About MalaCardsniemann-pick disease niemann-pick disease type c1 pick's disease niemann-pick disease type d
cholesterol acid sphingomyelinase deficiency lysosomal storage disease supranuclear palsy
progressive supranuclear palsy sandhoff disease mucolipidosis ii tangier disease
mucolipidosis metabolic disorders tauopathy coronary heart disease
brain injury peripheral neuropathy neurodegenerative disease muscular dystrophy
2 diseases from the University of Copenhagen DISEASES database for NPC1:Niemann-Pick disease Neurodegenerative disease 10/19 Novoseek disease relationships for NPC1 gene (see all 19) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| niemann-picks disease type c |
98 |
44 |
10480349 (2), 12955717 (2), 19718781 (2), 10942596 (2) (see all 38) |
| niemann-pick diseases |
81.5 |
9 |
16143556 (1), 18554276 (1), 9634529 (1), 18751914 (1) (see all 5) |
| sphingolipidoses |
79.7 |
1 |
18579730 (1) |
| lipidosis |
75.8 |
3 |
12606053 (1), 11249924 (1), 11525744 (1) |
| neurodegeneration |
63.8 |
9 |
15919659 (3), 11387550 (2), 15644330 (1), 10425213 (1) |
| neurodegenerative diseases |
58.7 |
13 |
17629950 (1), 17804599 (1), 18525117 (1), 20007703 (1) (see all 8) |
| lysosomal storage diseases |
57.3 |
1 |
15632139 (1) |
| cataplexy |
55.8 |
1 |
14629910 (1) |
| sandhoff disease |
53 |
1 |
15632139 (1) |
| tangier disease |
46.3 |
4 |
14747463 (3), 11533723 (1) |
GeneTests: NPC1
Niemann-Pick Disease Type C
Genetic Association Database (GAD): NPC1
Human Genome Epidemiology (HuGE) Navigator: NPC1 (22 documents)
Export disorders for NPC1 gene to outside databases
|
Publications
for NPC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NPC1 gene, integrated from 9 sources (see all 242):
(articles sorted by number of sources associating them with NPC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. (PubMed id 11479732)1, 2, 4, 9 Ribeiro I....Millat G. (2001)
- Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. (PubMed id 15774455)1, 2, 9 Yang C.-C....Lee M.-J. (2005)
- Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. (PubMed id 12554680)1, 2, 9 Blom T.S....Ikonen E. (2003)
- Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. (PubMed id 11333381)1, 2, 9 Millat G.... Vanier M.T. (2001)
- Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. (PubMed id 11349231)1, 2, 9 Sun X.... Snow K. (2001)
- NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes. (PubMed id 11754101)1, 2, 9 Bauer P.... Rolfs A. (2002)
- Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. (PubMed id 10821832)1, 2, 9 Davies J.P. and Ioannou Y.A. (2000)
- NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. (PubMed id 18772377)1, 2, 9 Infante R.E....Goldstein J.L. (2008)
- Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease. (PubMed id 12408188)1, 2, 9 Kaminski W.E....Schmitz G. (2002)
- Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PubMed id 10521290)1, 2, 9 Greer W.L....Neumann P.E. (1999)
|
External Searches for NPC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NPC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NPC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NPC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NPC1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for NPC1 | Genetics and Cytogenetics in Oncology and Haematology | | Niemann-Pick type C disease gene variation database | http://npc.fzk.de | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPC1 |
|
| | |
About This Section
| Patent Information for NPC1 gene:
Search GeneIP for patents involving NPC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NPC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for NPC1 | | OriGene shRNA RFP for NPC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NPC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NPC1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NPC1 | | OriGene 3'-UTR Clone for NPC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NPC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC1 |
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