Npc1a Niemann-Pick type C-1a [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Npc1aprovided by FlyBase
Official Full Name: Niemann-Pick type C-1aprovided by FlyBase
Primary source: FLYBASE:FBgn0024320
Locus tag: Dmel_CG5722
See related: AllianceGenome:FB:FBgn0024320
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG5722; Dmel\CG5722; DmNPC; dmNPC1; dncp1a; dNPC1; dnpc1a; dNPC1a; NPC-1; npc1; Npc1; NPC1; npc1a; NPC1a; Npc1_Dm
Summary: Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol transport; regulation of cholesterol transport; and sperm individualization. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be active in plasma membrane. Is expressed in adult head; organism; and ring gland. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to several human genes including NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 31B1-31B1; 2-40 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2L	NT_033779.5 (10213812..10221216, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2L	NT_033779.4 (10213812..10221216, complement)

Chromosome 2L - NT_033779.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a sterol-dependent, ecdysone-independent mechanism of NPC1 function in Drosophila spermatogenesis.
Title: The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis.
These data demonstrate a requirement for dNPC1a in the maintenance of neuronal function and viability and show that loss of dNPC1a in neurons mimics the human neurodegenerative condition.
Title: Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and age-progressive neurodegeneration.
Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects
Title: Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects.
The Niemann-Pick C proteins, in addition to their significant structural and sequence homology, these proteins may orchestrate their functions in a previously unappreciated fashion
Title: Niemann-Pick C proteins in sterol transport and absorption: flies in the ointment.
dnpc1a function is crucial for normal steroid hormone metabolism
Title: A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	IEA Inferred from Electronic Annotation more info
enables lipid transporter activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of ecdysteroid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal cholesterol absorption	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in molting cycle, chitin-based cuticle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sperm individualization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	ISM Inferred from Sequence Model more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: Niemann-Pick type C-1a

Names: CG5722-PA; CG5722-PB; CG5722-PC; CG5722-PD; CG5722-PE; CG5722-PF; CG5722-PG; Niemann-Pick type C-1; Npc1a-PA; Npc1a-PB; Npc1a-PC; Npc1a-PD; Npc1a-PE; Npc1a-PF; Npc1a-PG

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033779.5 Reference assembly

Range

10213812..10221216 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001201842.2 → NP_001188771.1 Niemann-Pick type C-1a, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001188771.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, Q9VL24

Conserved Domains (3) summary

TIGR00917
Location:33 → 1261

2A060601; Niemann-Pick C type protein family

pfam12349
Location:651 → 804

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

pfam16414
Location:31 → 274

NPC1_N; Niemann-Pick C1 N terminus
NM_001298867.1 → NP_001285796.1 Niemann-Pick type C-1a, isoform F [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001285796.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, X2J9B0

Conserved Domains (1) summary

TIGR00917
Location:33 → 1257

2A060601; Niemann-Pick C type protein family
NM_001201841.2 → NP_001188770.1 Niemann-Pick type C-1a, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001188770.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, Q9VL24

Conserved Domains (3) summary

TIGR00917
Location:33 → 1261

2A060601; Niemann-Pick C type protein family

pfam12349
Location:651 → 804

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

pfam16414
Location:31 → 274

NPC1_N; Niemann-Pick C1 N terminus
NM_001201840.2 → NP_001188769.1 Niemann-Pick type C-1a, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001188769.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, Q9VL24

Conserved Domains (3) summary

TIGR00917
Location:33 → 1261

2A060601; Niemann-Pick C type protein family

pfam12349
Location:651 → 804

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

pfam16414
Location:31 → 274

NPC1_N; Niemann-Pick C1 N terminus
NM_001298866.1 → NP_001285795.1 Niemann-Pick type C-1a, isoform E [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001285795.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, X2J9B0

Conserved Domains (1) summary

TIGR00917
Location:33 → 1257

2A060601; Niemann-Pick C type protein family
NM_135513.5 → NP_609357.2 Niemann-Pick type C-1a, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_609357.2

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, Q9VL24

Related

FBpp0079547

Conserved Domains (3) summary

TIGR00917
Location:33 → 1261

2A060601; Niemann-Pick C type protein family

pfam12349
Location:651 → 804

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

pfam16414
Location:31 → 274

NPC1_N; Niemann-Pick C1 N terminus
NM_001298868.1 → NP_001285797.1 Niemann-Pick type C-1a, isoform G [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001285797.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9U5W1, X2J9B0

Conserved Domains (1) summary

TIGR00917
Location:33 → 1257

2A060601; Niemann-Pick C type protein family