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protein coding gene - npc2 (SPAPB8E5.04c) - Niemann-Pick disease type C2 protein hE1 homolog Npc2

Gene summary

Standard name
npc2
Systematic ID
SPAPB8E5.04c
Product
Niemann-Pick disease type C2 protein hE1 homolog Npc2
Organism
Schizosaccharomyces pombe (fission yeast)
UniProt ID
Q9C0X9
Characterisation status
biological role inferred
Feature type
mRNA gene
Genomic location
chromosome I: 4913971..4915417 reverse strand

Annotation

Disease association

MONDO:0002561 - lysosomal storage disease

References:

MONDO:0005066 - metabolic disease

References:

MONDO:0001982 - Niemann-Pick disease

References:

MONDO:0011873 - Niemann-Pick disease, type C2

References:

GO biological process

GO:0032366 - intracellular sterol transport

References:

GO:0061024 - membrane organization

References:

GO cellular component

GO:0000328 - fungal-type vacuole lumen

References:

GO molecular function

GO:0032934 - sterol binding

References:

GO:0120015 - sterol transfer activity

References:

Modification

MOD:00006 - N-glycosylated residue

References:

Protein sequence feature

SO:0000418 - signal_peptide

References:

SO:0001812 - transmembrane_helix

References:

Qualitative gene expression

PomGeneEx:0000018 - protein level increased

References:

PomGeneEx:0000011 - RNA level increased

References:

Quantitative gene expression

PBO:0006310 - protein level

References:

PBO:0011963 - RNA level

References:

Single locus phenotype

FYPO:0009091 - decreased cell population growth on lysine and proline nitrogen source

References:

Genotypes:

FYPO:0009092 - decreased cell population growth on lysine and serine nitrogen source

References:

Genotypes:

FYPO:0007562 - decreased cell population growth on serine nitrogen source

References:

Genotypes:

FYPO:0009098 - increased cell population growth on mannitol carbon source

References:

Genotypes:

FYPO:0001583 - resistance to lithium

References:

Genotypes:

FYPO:0009043 - resistance to potassium chloride and sodium dodecyl sulfate

References:

Genotypes:

FYPO:0000799 - sensitive to diamide

References:

Genotypes:

FYPO:0007931 - sensitive to egtazic acid

References:

Genotypes:

FYPO:0000088 - sensitive to hydroxyurea

References:

Genotypes:

FYPO:0009086 - sensitive to lithium chloride and sodium dodecyl sulfate

References:

Genotypes:

FYPO:0002060 - viable vegetative cell population

References:

Genotypes:

FYPO:0002177 - viable vegetative cell with normal cell morphology

References:

Genotypes:

Taxonomic conservation

PBO:0011065 - conserved in eukaryotes

PBO:0011071 - conserved in eukaryotes only

PBO:0011064 - conserved in fungi

PBO:0011069 - conserved in metazoa

PBO:0011070 - conserved in vertebrates

PBO:0006222 - predominantly single copy (one to one)

Protein features

IDNameInterPro nameDB name
PF02221E1_DerP2_DerF2ML_domPfam
cd00917PG-PI_TPML_PG-PI_TPCDD
SM00737MLML_domSMART
G3DSA:2.60.40.770:FF:000004CATH-FunFam
G3DSA:2.60.40.770CATH-Gene3D
SSF81296Ig_E-setSUPERFAMILY
PTHR11306NPC2-likePANTHER
Signal PeptideDeepTMHMM-Signal-Peptide

Orthologs

References / Literature

PMID:23101633 - Quantitative analysis of fission yeast transcriptomes and proteomes in proliferating and quiescent cells.
Marguerat S et al. Cell 2012 Oct 26;151(3):671-83
PMID:39705284 - Proteomic and phosphoproteomic analyses reveal that TORC1 is reactivated by pheromone signaling during sexual reproduction in fission yeast.
Bérard M et al. PLoS Biol 2024 Dec 20;22(12):e3002963
PMID:29432178 - General amino acid control in fission yeast is regulated by a nonconserved transcription factor, with functions analogous to Gcn4/Atf4.
Duncan CDS et al. Proc Natl Acad Sci U S A 2018 Feb 20;115(8):E1829-E1838
PMID:39367033 - Quantitative proteomics and phosphoproteomics profiling of meiotic divisions in the fission yeast Schizosaccharomyces pombe.
Sivakova B et al. Sci Rep 2024 Oct 04;14(1):23105
PB_REF:0000003 - Disease Association Curation
PMID:12161753 - The transcriptional program of meiosis and sporulation in fission yeast.
Mata J et al. Nat Genet 2002 Sep;32(1):143-7
PMID:21511999 - Comparative functional genomics of the fission yeasts.
Rhind N et al. Science 2011 May 20;332(6032):930-6
PMID:23697806 - A genome-wide resource of cell cycle and cell shape genes of fission yeast.
Hayles J et al. Open Biol 2013 May 22;3(5):130053
PMID:25375137 - Systematic analysis of the role of RNA-binding proteins in the regulation of RNA stability.
Hasan A et al. PLoS Genet 2014 Nov;10(11):e1004684
PMID:28281664 - Genetic interactions and functional analyses of the fission yeast gsk3 and amk2 single and double mutants defective in TORC1-dependent processes.
Rallis C et al. Sci Rep 2017 Mar 10;7:44257
PMID:22681890 - Hierarchical modularity and the evolution of genetic interactomes across species.
Ryan CJ et al. Mol Cell 2012 Jun 08;46(5):691-704
GO_REF:0000111 - Gene Ontology annotations Inferred by Curator (IC) using at least one Inferred by Sequence Similarity (ISS) annotation to support the inference
PMID:23231582 - Genome-wide characterization of the phosphate starvation response in Schizosaccharomyces pombe.
Carter-O'Connell I et al. BMC Genomics 2012 Dec 12;13:697
PMID:22633491 - Mapping N-glycosylation sites across seven evolutionarily distant species reveals a divergent substrate proteome despite a common core machinery.
Zielinska DF et al. Mol Cell 2012 May 25;46(4):542-8
PMID:11152613 - Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes.
Krogh A et al. J Mol Biol 2001 Jan 19;305(3):567-80
PMID:20473289 - Analysis of a genome-wide set of gene deletions in the fission yeast Schizosaccharomyces pombe.
Kim DU et al. Nat Biotechnol 2010 Jun;28(6):617-623
PMID:36408920 - UniProt: the Universal Protein Knowledgebase in 2023.
UniProt Consortium Nucleic Acids Res 2023 Jan 06;51(D1):D523-D531
PMID:12529438 - Global transcriptional responses of fission yeast to environmental stress.
Chen D et al. Mol Biol Cell 2003 Jan;14(1):214-29
PMID:27984744 - Survival in Quiescence Requires the Euchromatic Deployment of Clr4/SUV39H by Argonaute-Associated Small RNAs.
Joh RI et al. Mol Cell 2016 Dec 15;64(6):1088-1101
PMID:33109728 - High-Throughput Identification of Nuclear Envelope Protein Interactions in Schizosaccharomyces pombe Using an Arrayed Membrane Yeast-Two Hybrid Library.
Varberg JM et al. G3 (Bethesda) 2020 Dec 03;10(12):4649-4663
Pfam:PF02221 - Unknown title
PMID:23173672 - Identification of novel genes involved in DNA damage response by screening a genome-wide Schizosaccharomyces pombe deletion library.
Pan X et al. BMC Genomics 2012 Nov 23;13:662
PMID:37787768 - Broad functional profiling of fission yeast proteins using phenomics and machine learning.
Rodríguez-López M et al. Elife 2023 Oct 03;12
GO_REF:0000033 - Annotation inferences using phylogenetic trees
PMID:31626996 - Multiplexed proteome profiling of carbon source perturbations in two yeast species with SL-SP3-TMT.
Paulo JA et al. J Proteomics 2020 Jan 06;210:103531
PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs
GO_REF:0000024 - Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity.