Product Description: Niemann-Pick type C1-related protein
SignalP Peptide: N/A
# Transmembrane Domains: 12
EC Numbers: None
Curated GO (PlasmoDB):
| Type | GO Term | Name |
|---|---|---|
| Component | GO:0016021 | integral component of membrane |
| Component | GO:0016020 | membrane |
| Component | GO:0005886 | plasma membrane |
| Process | GO:0055088 | lipid homeostasis |
| Process | GO:0009410 | response to xenobiotic stimulus |
Expression by stage (LR - Le Roch et al., and MCA - Malaria Cell Atlas):
| Stage | LR class | MCA mean | MCA prop. zeros |
|---|---|---|---|
| Sporozoite | expressed | N/A | N/A |
| Ring | expressed | 2.43 | 0.18 |
| Trophozoite | expressed | 1.38 | 0.36 |
| Schizont | expressed | 0.69 | 0.63 |
| Gametocyte | expressed | 0.72 | 0.62 |
More info:
Old (Pf3D7v3) Gene ID: PF3D7_0107500
Resistome Missense Mutations: M398I, S490L, L499P, F562I, A1108T, A1208E, F1380S, I1382M, F1436I
Resistome Compounds with Missense Mutations: BRD9685, MMV009108, MMV019662, MMV028038
Resistome # Samples with Disruptive Mutations: 24 (23 missense, 17 "interesting" missense)
Zhang Phenotype: Non - Mutable in CDS
MIS: 0.261 | MFS: -2.596 | #Insertions: 0
PlasmoGEM Phenotype: N/A
RMgmDB ABS Phenotype: N/A
More info: PhenoPlasm Link
AlphaFill Uniprot ID: Q8I266
"Best" AlphaFill ligand hit: No AlphaFill hits
No associated EC numbersNo evidence of orthology to BindingDB entries
Ortholog Group (OrthoMCL): OG6_102973
Most Similar Human Ortholog: Q3KNS1
TM-align score: 0.72 | RMSD: 4.00
Seq Identity: 0.20 | Length: 630 / 1470
All Human Orthologs (OrthoMCL):
| Gene ID | Description |
|---|---|
| ENSG00000276595 | patched domain containing 3 |
MalariaGEN Pf7 (worldwide samples) # unique SNV/indels:
Homozygous genotype calls only
| variant type | common | rare | doubleton | singleton |
|---|---|---|---|---|
| synonymous | 20 | 71 | 56 | 105 |
| disruptive | 59 | 111 | 61 | 178 |
| missense | 28 | 87 | 55 | 154 |
Any inclusion in genotype call
| variant type | common | rare | doubleton | singleton |
|---|---|---|---|---|
| synonymous | 27 | 158 | 63 | 115 |
| disruptive | 87 | 242 | 127 | 340 |
| missense | 38 | 192 | 108 | 231 |
PlasmoDB Total SNPs: 463
Non-coding: 315 | Synonymous: 98 | Nonsynonymous: 50 | Stop Codon: 0
Protein Length: 1470 | Molecular Weight (kDa): 170.301
UniProt ID(s): Q8I266
PDB ID(s): None
Isoelectric Point: 5.17
Protein Domain Annotations:
| Source | Family ID | Description |
|---|---|---|
| InterPro | IPR003392 | Protein patched/dispatched |
| PFam | PF02460 | Protein patched/dispatched |
| Superfamily | SSF82866 | N/A |
| PMID | Title | Authors | DOI/Link |
|---|---|---|---|
| 11152613 | Predicting transmembrane protein topology with a hidden Markov model: applicationto complete genomes. | Krogh A, Larsson B, von Heijne G, Sonnhammer EL | 10.1006/jmbi.2000.4315 |
| 12368867 | Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13. | Hall N, Pain A, ..., Barrell BG | 10.1038/nature01095 |
| 22174676 | Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associatedwith multiple lipidoses and increased pathogenicity. | Lige B, Romano JD, ..., Coppens I | 10.1371/journal.ppat.1002410 |
| 30888318 | Plasmodium Niemann-Pick type C1-related protein is a druggable target requiredfor parasite membrane homeostasis | Istvan ES, Das S, ..., Goldberg DE | 10.7554/eLife.40529 |
| 37440478 | Identification and characterization of protein interactions with the majorNiemann-Pick type C disease protein in yeast reveals pathways of therapeuticpotential | Hammond N, Snider J, ..., Munkacsi AB | 10.1093/genetics/iyad129 |
| 37047194 | Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model ofNiemann-Pick Type C1 | Martins TS, Costa RS, ..., Costa V | 10.3390/ijms24076221 |
| 37908116 | Automated quantification of vacuole fusion and lipophagy in Saccharomycescerevisiae from fluorescence and cryo-soft X-ray microscopy data using deeplearning | Egebjerg JM, Szomek M, ..., Wustner D | 10.1080/15548627.2023.2270378 |