FlyBase Gene Report: Dmel\Npc1a

General Information

Symbol

Dmel\Npc1a

Species

D. melanogaster

Name

Niemann-Pick type C-1a

Annotation Symbol

CG5722

Feature Type

protein_coding_gene

FlyBase ID

FBgn0024320

Gene Model Status

Current

Stock Availability

18 publicly available

Gene Summary

Niemann-Pick type C-1a (Npc1a) encodes a cholesterol trafficking protein that contributes to sterol and ecdysone metabolism. It is involved in sperm individualization. [Date last reviewed: 2019-09-26] (FlyBase Gene Snapshot)

All Summaries

Gene Snapshot
Alliance
Auto summary
Gene Group
Interactive Fly

Also Known As

NPC1, dnpc1a, Niemann-Pick Type C-1

Key Links

Genomic Location

Cytogenetic map

31B1-31B1

Sequence location

2L:10,213,812..10,221,216 [-]

Recombination map

2-40

RefSeq locus

NT_033779 REGION:10213812..10221216

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse GBrowse

Help me choose

Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

Function

GO Summary Ribbons

Gene Ontology (GO) Annotations (14 terms)

Molecular Function (3 terms)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

enables cholesterol binding

inferred from biological aspect of ancestor with PANTHER:PTN000083973

(assigned by GO_Central )

(Gaudet et al., 2011)

enables lipid transporter activity

inferred from electronic annotation with InterPro:IPR004765

(assigned by InterPro )

(FlyBase Curators et al., 2004-)

enables sterol binding

inferred from biological aspect of ancestor with PANTHER:PTN000847349

(assigned by GO_Central )

(Gaudet et al., 2011)

Biological Process (8 terms)

Terms Based on Experimental Evidence (5 terms)

CV Term

Evidence

References

acts_upstream_of ecdysteroid biosynthetic process

inferred from mutant phenotype

(Huang et al., 2007)

involved_in molting cycle, chitin-based cuticle

inferred from mutant phenotype

(Huang et al., 2005)

involved_in regulation of cholesterol transport

inferred from direct assay

(Phillips et al., 2008)

involved_in sperm individualization

inferred from mutant phenotype

(Wang et al., 2011)

involved_in sterol metabolic process

inferred from mutant phenotype

(Huang et al., 2005)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

involved_in cholesterol homeostasis

inferred from biological aspect of ancestor with PANTHER:PTN000083973

(assigned by GO_Central )

(Gaudet et al., 2011)

involved_in intestinal cholesterol absorption

inferred from biological aspect of ancestor with PANTHER:PTN000083973

(assigned by GO_Central )

(Gaudet et al., 2011)

involved_in sterol transport

inferred from biological aspect of ancestor with PANTHER:PTN000847349

(assigned by GO_Central )

(Gaudet et al., 2011)

Cellular Component (3 terms)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

located_in integral component of membrane

inferred from electronic annotation with InterPro:IPR000731, InterPro:IPR004765

(assigned by InterPro )

(FlyBase Curators et al., 2004-)

is_active_in membrane

inferred from biological aspect of ancestor with PANTHER:PTN000847349

(assigned by GO_Central )

(Gaudet et al., 2011)

is_active_in plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN000083973

(assigned by GO_Central )

(Gaudet et al., 2011)

Gene Group (FlyBase)

SLC65 FAMILY OF NPC-TYPE CHOLESTEROL TRANSPORTERS

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Snapshot

Gene Group (FlyBase)

SLC65 FAMILY OF NPC-TYPE CHOLESTEROL TRANSPORTERS -: Solute carrier family 65 (SLC65) members are intracellular transporters involved in the intracellular cholesterol trafficking.

Summary (Interactive Fly)

a transmembrane protein related to the Hedgehog receptor Patched - mutants have a shortage of sterol, and, as a consequence, inadequate ecdysone synthesis - required in the maintenance of neuronal function and viability - loss of NPC1a in neurons mimics the human Niemann-Pick disease type C neurodegenerative condition

Interactive Fly

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\Npc1a for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)

Isoform displayed:

Pfam protein domains

InterPro name

classification

start

end

Protein Domains (via SMART)

Isoform displayed:

SMART protein domains

InterPro name

classification

start

end

Structure New Section

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry Q9VL24)

If you don't see the viewer to the right, refresh your browser.

Model Confidence:

Very high (pLDDT > 90)
Confident (90 > pLDDT > 70)
Low (70 > pLDDT > 50)
Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Comments on Gene Model

Gene model reviewed during 5.52

Sequence Ontology: Class of Gene

nuclear_gene

protein_coding_gene

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

Npc1a-RA

FBtr0079957

NM_135513

4223

1287

Npc1a-RB

FBtr0303905

NM_001201840

4119

1287

Npc1a-RC

FBtr0303906

NM_001201841

4081

1287

Npc1a-RD

FBtr0303907

NM_001201842

4127

1287

Npc1a-RE

FBtr0343608

NM_001298866

4211

1283

Npc1a-RF

FBtr0343609

NM_001298867

4032

1283

Npc1a-RG

FBtr0343610

NM_001298868

5025

1283

Additional Transcript Data and Comments

Reported size (kB)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

UniProt

RefSeq ID

GenBank

Npc1a-PA

FBpp0079547

143.3

1287

5.27

FBpp0292908

143.3

1287

5.27

FBpp0292909

143.3

1287

5.27

FBpp0292910

143.3

1287

5.27

FBpp0310203

142.9

1283

5.27

FBpp0310204

142.9

1283

5.27

FBpp0310205

142.9

1283

5.27

X2J9B0

NP_001285797

AHN54311

Polypeptides with Identical Sequences

The group(s) of polypeptides indicated below share identical sequence to each other.

1287 aa isoforms: Npc1a-PA, Npc1a-PB, Npc1a-PC, Npc1a-PD

1283 aa isoforms: Npc1a-PE, Npc1a-PF, Npc1a-PG

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Crossreferences

InterPro - A database of protein families, domains and functional sites

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Npc1a using the Feature Mapper tool.

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Linkouts

Expression Data

Expression Summary Ribbons

Colored tiles in ribbon indicate that the Fly Cell Atlas project found the gene expressed in that cell type. Darker colors mean that more cells of that cell type express the gene:

low

high

Colorless tiles indicate that there is no scRNAseq data for the gene in that cell type.

Colored tiles in ribbon indicate that expression data (RNA and/or protein) has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.

Colored tiles in the ribbon indicate the average RNA expression level of the gene at the indicated stages:

low

high

as determined by RNA-seq (RPKM) using whole organism samples modENCODE, Brown et al., 2014. For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 1 -- 17

organism | ubiquitous

Comment: transcript is uniformly distributed

(Fluegel et al., 2006)

embryonic stage 13

ring gland

(Xiang et al., 2010)

northern blot

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage -- adult stage

organism

(Fluegel et al., 2006)

Additional Descriptive Data

Npc1a transcript is uniformly distributed during embryonic stages, and expressed at all stages of development.

(Fluegel et al., 2006)

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

Expression Deduced from Reporters

Reporter: P{Npc1a-GAL4.2.3}

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

ring gland

(Xiang et al., 2010)

Reporter: P{Npc1a-GAL4.RSE}

Stage

Tissue/Position (including subcellular localization)

Reference

third instar larval stage

ring gland

(Xiang et al., 2010)

High-Throughput Expression Data

Associated Tools

GBrowse - Visual display of RNA-Seq signals

View Dmel\Npc1a in GBrowse 2

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\Npc1a

View exonic expression by tissue for Dmel\Npc1a

Bulk Downloads

RNA-Seq RPKM values for all genes

Reference

See Gelbart and Emmert, 2013 for analysis details and data files for all genes.

Developmental Proteome: Life Cycle

Developmental Proteome: Embryogenesis

External Data and Images

Linkouts

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

34358/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0024320

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0024320

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0024320

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG5722

Flygut - An atlas of the Drosophila adult midgut

FBgn0024320

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 19 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 12 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of Npc1a

Transgenic constructs containing regulatory region of Npc1a

Aberrations (Deficiencies and Duplications) ( 3 )

Inferred from experimentation ( 3 )

Gene partially disrupted in

Df(2L)NPC1^27A

(Fluegel et al., 2006)

Gene disrupted in

Df(2L)Exel6026

(Ryder, 2004.4.26)

Df(2L)Exel8024

(Ryder, 2004.4.26)

Inferred from location ( 0 )

Alleles Representing Disease-Implicated Variants

Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal (with Df(2L)BSC143)

Npc1a^{CR00521-TG4.0}

lethal (with Df(2L)J2)

Npc1a^57A

lethal | first instar larval stage | recessive

Npc1a^57A

lethal | pupal stage | recessive

lethal | recessive | second instar larval stage

Npc1a^57A

lethal | recessive | third instar larval stage

lethal - all die before end of first instar larval stage

lethal - all die before end of first instar larval stage (with Npc1a¹)

Npc1a²

lethal - all die before end of first instar larval stage (with Npc1a²)

Npc1a¹

lethal - all die before end of first instar larval stage | recessive

lethal - all die before end of larval stage | recessive

Npc1a^94A

viable, with Scer\GAL4^- :

Npc1a^EY00751

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

Npc1a^GD1054

viable, with Scer\GAL4^Mef2.PR

Npc1a^GD1054

viable, with Scer\GAL4^pnr-MD237

Npc1a^GD1054

viable, with Scer\GAL4^tin.CΔ4

Npc1a^GD1054

Sterility

Allele

male sterile, with Npc1a^UAS.EYFP, Scer\GAL4^2-286

Npc1a^unspecified

male sterile, with Npc1a^unspecified, Scer\GAL4^2-286

Npc1a^UAS.EYFP

Other Phenotypes

Allele

abnormal aging

Npc1a¹

abnormal developmental rate, with Scer\GAL4^P0206

Npc1a^KK101077

abnormal developmental rate, with Scer\GAL4^phm.PO

Npc1a^KK101077

abnormal eclosion

Npc1a¹

abnormal locomotor behavior | adult stage

Npc1a¹

abnormal neuroanatomy | adult stage

Npc1a¹

abnormal neuroanatomy | adult stage | progressive

Npc1a¹

abnormal neuroanatomy | adult stage | progressive, with Scer\GAL4^elav-C155

Npc1a^dsRNA.UAS

abnormal neurophysiology | adult stage

Npc1a¹

decreased fecundity | male, with Scer\GAL4^2-286

increased body size | pupal stage, with Scer\GAL4^P0206

Npc1a^KK101077

some die during first instar larval stage

some die during first instar larval stage (with Npc1a¹)

Npc1a²

some die during first instar larval stage (with Npc1a²)

Npc1a¹

some die during first instar larval stage | recessive

some die during third instar larval stage | recessive

Npc1a^94A

wild-type

Npc1a^65A

Phenotype manifest in

Allele

adult brain | adult stage

Npc1a¹

endosome, with Scer\GAL4^phm.PO

Npc1a^KK101077

eye | adult stage

Npc1a¹

individualization stage spermatid, with Npc1a^UAS.EYFP, Scer\GAL4^2-286

Npc1a^unspecified

individualization stage spermatid, with Npc1a^unspecified, Scer\GAL4^2-286

Npc1a^UAS.EYFP

neuropil | adult stage

Npc1a¹

prothoracic gland | third instar larval stage, with Scer\GAL4^P0206

Npc1a^KK101077

prothoracic gland | third instar larval stage, with Scer\GAL4^phm.PO

Npc1a^KK101077

retina | adult stage

Npc1a¹

rhabdomere | adult stage

Npc1a¹

seminal vesicle, with Npc1a^UAS.EYFP, Scer\GAL4^2-286

Npc1a^unspecified

seminal vesicle, with Npc1a^unspecified, Scer\GAL4^2-286

Npc1a^UAS.EYFP

sperm individualization complex, with Npc1a^UAS.EYFP, Scer\GAL4^2-286

Npc1a^unspecified

sperm individualization complex, with Npc1a^unspecified, Scer\GAL4^2-286

Npc1a^UAS.EYFP

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v8.0)

Homo sapiens (Human) (3)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Hsap\NPC1

14 of 15

Yes

Hsap\NPC1L1

7 of 15

Yes

Hsap\SCAP

1 of 15

Model Organism Orthologs (via DIOPT v8.0)

Mus musculus (laboratory mouse) (3)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Mmus\Npc1

14 of 15

Yes

Mmus\Npc1l1

6 of 15

Yes

Mmus\Scap

1 of 15

Rattus norvegicus (Norway rat) (3)

Rnor\Npc1

12 of 13

Yes

Rnor\Npc1l1

4 of 13

Yes

Rnor\Scap

1 of 13

Xenopus tropicalis (Western clawed frog) (3)

Xtro\npc1

8 of 12

Yes

Xtro\npc1l1

5 of 12

Yes

Xtro\scap

1 of 12

Danio rerio (Zebrafish) (3)

Drer\npc1

13 of 15

Yes

Drer\npc1l1

6 of 15

Yes

Drer\scap

1 of 15

Caenorhabditis elegans (Nematode, roundworm) (3)

Cele\ncr-1

12 of 15

Yes

Cele\ncr-2

10 of 15

Yes

Cele\scp-1

1 of 15

Arabidopsis thaliana (thale-cress) (2)

Atha\AT4G38350

7 of 9

Yes

Atha\AT1G42470

6 of 9

Yes

Saccharomyces cerevisiae (Brewer's yeast) (1)

Scer\NCR1

13 of 15

Yes

Schizosaccharomyces pombe (Fission yeast) (0)

No records found.

Other Organism Orthologs (via OrthoDB)

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v8.0)

Drosophila melanogaster (Fruit fly) (5)

Gene Symbol

Score

Source

Alignment

6 of 10

2 of 10

1 of 10

ptc

1 of 10

Ptr

1 of 10

Human Disease Associations

FlyBase Human Disease Model Reports

Niemann-Pick disease, type C1

Disease Model Summary Ribbon

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 6 )

Allele

Disease

Evidence

References

Npc1a^57A

model of Niemann-Pick disease type C1

CEA

(Fluegel et al., 2006)

Npc1a^14A

model of Niemann-Pick disease type C1

CEA

(Fluegel et al., 2006)

Npc1a^25A

model of Niemann-Pick disease type C1

CEA

(Fluegel et al., 2006)

Npc1a¹

model of Niemann-Pick disease

CEA

(Huang et al., 2005)

CEA with Npc1a^UAS.EYFP

(Huang et al., 2005)

model of Niemann-Pick disease type C1

CEA

(Phillips et al., 2008)

Npc1a²

model of Niemann-Pick disease

CEA

(Huang et al., 2005)

CEA with Npc1a^UAS.EYFP

(Huang et al., 2005)

Npc1a^KK101077

model of Niemann-Pick disease

CEA

(Danielsen et al., 2016)

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

NPC1; NPC intracellular cholesterol transporter 1

model of Niemann-Pick disease type C1

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

Npc1a^KK101077

model of Niemann-Pick disease

is ameliorated by Tsc1^UAS.cTa

(Danielsen et al., 2016)

is ameliorated by gig^UAS.cTa

(Danielsen et al., 2016)

is ameliorated by Atg1^UAS.cSa

(Danielsen et al., 2016)

is ameliorated by Atg13^UAS.cCa

(Danielsen et al., 2016)

Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

NPC1; NPC intracellular cholesterol transporter 1

14 of 15

607623

NIEMANN-PICK DISEASE, TYPE C1; NPC1

Niemann-Pick disease type C1

NPC1L1; NPC1 like intracellular cholesterol transporter 1

7 of 15

608010

LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

esyN Network Diagram

Interactions Browser

Summary of Genetic Interactions

esyN Network Diagram

esyN Network Key:

Suppression

Enhancement

View in Interactions Browser

Please look at the allele data for full details of the genetic interactions

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Npc1a

suppressible

Atg13|Atg1

(Danielsen et al., 2016)

Npc1a

suppressible

sit

(Danielsen et al., 2016)

Npc1a

suppressible

Tsc1|gig

(Danielsen et al., 2016)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

External Data

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0024320

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0024320

External Data

Linkouts

KEGG Pathways - Wiring diagrams of molecular interactions, reactions and relations.

Lysosome

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

LDL clearance

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

2-40

Cytogenetic map

31B1-31B1

Sequence location

2L:10,213,812..10,221,216 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

31B1-31B1

Limits computationally determined from genome sequence between P{lacW}l(2)k06324^k06324 and P{lacW}me31B^k06607

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

31B2-31B3

(Zhang, 1999.9.16)

31B1-31B5

(determined by in situ hybridisation)

(Johnson, 1998.3.13)

Experimentally Determined Recombination Data

Location

2-40

(FlyBase, 2016)

2-34.8

(Comeron et al., 2012)

Left of (cM)

Right of (cM)

Notes

Stocks and Reagents

Stocks (18)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

41763

w^*; P{UAS-NPC1.YFP}3

81102

Npc1a^V890M/CyO, P{ActGFP}JMR1

81103

Npc1a^A1015T/CyO, P{ActGFP}JMR1

81101

w¹¹¹⁸; Npc1a^I1060T/CyO

81100

w¹¹¹⁸; TI{TI}Npc1a^KO/CyO

50765

w^*; Npc1a²/CyO, P{ActGFP}JMR1

29886

w¹¹¹⁸; Mi{ET1}Npc1a^MB09749/SM6a

Kyoto

124135

w¹¹¹⁸; P{RS3}Npc1a^CB-6516-3

124253

w¹¹¹⁸; P{RS3}Npc1a^CB-6890-3

VDRC

v105405

P{KK101077}VIE-260B

v42782

w¹¹¹⁸; P{GD1054}v42782

v318567

PBac{fTRG00399.sfGFP-TVPTBF}VK00033

More stocks available...

Genomic Clones (20)

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (54)

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced

BDGP DGC clones

RE56428

Other clones

Drosophila Genomics Resource Center cDNA clones

For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

FBgn0024320

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0024320

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

34358

Antibody Information

Laboratory Generated Antibodies

Commercially Available Antibodies

Other Information

Relationship to Other Genes

Source for database identify of

Source for identity of: Npc1a NPC1

(Huang et al., 2007)

Source for database merge of

Additional comments

Other Comments

Npc1a mutants rescued to adults by restoration of ecdysone production mimic human NPC patients with progressive motor defects and reduced life spans. Npc1a mutant brains reveal age-progressive accumulation of multilamellar and multivescicular organelles, preceding the onset of neurodegeneration.

(Phillips et al., 2008)

The LD15757 cDNA clone contains a complete NPC1 open reading frame along with contaminating bacterial sequence.

(Fluegel et al., 2006)

dsRNA made from templates generated with primers directed against this gene tested in RNAi screen for effects on Kc167 and S2R⁺ cell morphology.

(Kiger et al., 2003)

Origin and Etymology

Discoverer

Etymology

Identification

External Crossreferences and Linkouts ( 60 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

34358

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.

RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.

Q9VL24

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

Other crossreferences

AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.

Q9VL24

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0024320

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

34358/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0024320

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0024320

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0024320

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

CG5722

Flygut - An atlas of the Drosophila adult midgut

FBgn0024320

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0024320

GenomeRNAi - A database for cell-based and in vivo RNAi phenotypes and reagents

34358

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

InterPro - A database of protein families, domains and functional sites

KEGG Genes - Molecular building blocks of life in the genomic space.

Dmel_CG5722

MARRVEL_MODEL - MARRVEL (model organism gene)

34358

modMine - A data warehouse for the modENCODE project

FBgn0024320

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0024320

DRSC - Results frm RNAi screens

FBgn0024320

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0024320

FlyMine - An integrated database for Drosophila genomics

FBgn0024320

Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution

Interactive Fly

KEGG Pathways - Wiring diagrams of molecular interactions, reactions and relations.

Lysosome

Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.

LDL clearance

Synonyms and Secondary IDs (17)

Reported As

Symbol Synonym

CG5722

(Christis and Munro, 2012, Ni et al., 2011.7.19, Keleman et al., 2009.8.5, Schiess et al., 2009)

DmNPC

(Ingham and McMahon, 2001)

NPC-1

(Gáliková et al., 2011)

NPC1

(Sarov et al., 2016, Japanese National Institute of Genetics, 2012.5.21, Mudiganti et al., 2010, Martin et al., 2007)

NPC1a

(Toprak et al., 2020, Zheng et al., 2018, Niwa and Niwa, 2011, Huang et al., 2008, Phillips et al., 2008, Voght et al., 2007, Fluegel et al., 2006, Higaki et al., 2004, Voght et al., 2003)

Npc1

(Huangfu and Anderson, 2006)

Npc1_Dm

(Kuwabara and Labouesse, 2002)

Npc1a

(Ceder and Fredriksson, 2022, Kasinathan et al., 2020, Pallottini and Pfrieger, 2020, Bialistoky et al., 2019, Mast and DiPrimio, 2019.3.13, Mast and DiPrimio, 2019.7.23, Gene Disruption Project members, 2018-, Lee et al., 2018, Christesen et al., 2017, Transgenic RNAi Project members, 2017-, Danielsen et al., 2016, Ou et al., 2016, Kühnlein, 2010)

dNPC1

(Rodesch et al., 2000)

dNPC1a

(Scholler Joulie et al., 2007, Fluegel et al., 2005)

dmNPC1

(Burke et al., 1999)

dncp1a

(Huang et al., 2005)

dnpc1a

(Rigon et al., 2021, Phillips et al., 2008, Huang et al., 2006)

npc1

(Thanh et al., 2020, White-Cooper, 2012, Wang et al., 2011, Xiang et al., 2010)

npc1a

(Danielsen et al., 2014, Huang et al., 2008, Huang et al., 2007)

Name Synonyms

Niemann-Pick Type C-1

(Martin et al., 2007, Huang and Scott, 2004)

Niemann-Pick type C-1a

(Kühnlein, 2010)

Secondary FlyBase IDs

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

References (86)

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