Genomic location: Pf3D7_02_v3:467,682..468,518(+)
Miles Classification: Core
Product Description: UDP-N-acetylglucosamine transferase subunit ALG14, putative
SignalP Peptide: N/A
# Transmembrane Domains: 4
EC Numbers: 2.4.1.141 (N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase)
Curated GO (PlasmoDB):
| Component | GO:0043541 | UDP-N-acetylglucosamine transferase complex |
| Function | GO:0004577 | N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity |
| Process | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
Expression by stage, third quartile (Malaria Cell Atlas): No data
More info:
Zhang Phenotype: Non - Mutable in CDS
PlasmoGEM Phenotype: Slow (Pb ortholog: PBANKA_0308400)
RMgmDB ABS Phenotype: Different from wild type (Pb ortholog: PBANKA_0308400)
More info: PhenoPlasm Link
AlphaFill Uniprot ID: O96196
"Best" AlphaFill ligand hit: No AlphaFill hits
BRENDA EC Inhibitors:
| 2.4.1.141 | N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase | UDPUTPUMPEDTADiumycinUDPglucosebacitracinAmphomycinShowdomycin5-fluoro N-acetylglucosamineN-acetyl-D-glucosaminyl-diphosphodolicholP1-dolichyl P2-(2-O-ethyl-alpha-D-glucopyranosyl) diphosphate... |
No evidence of orthology to BindingDB entries
Ortholog Group (OrthoMCL): OG6_102531
Most Similar Human Ortholog: Q96F25
All Human Orthologs (OrthoMCL):
| ENSG00000172339 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
Protein length: 209 | Molecular Weight (kDa): 24.818
UniProt ID(s): O96196
PDB ID(s): None
Isoelectric Point: 9.98
Protein Domain Annotations:
| InterPro | IPR013969 | Oligosaccharide biosynthesis protein Alg14-like |
| PFam | PF08660 | Oligosaccharide biosynthesis protein Alg14-like |
| Superfamily | N/A | N/A |
Old (Pf3D7v3) Gene ID: PF3D7_0211600
Resistome Missense Mutations: None
Resistome Compounds with Missense Mutations: None
Resistome # Samples with Disruptive Mutations: 0 (0 missense, 0 "interesting" missense)
MalariaGEN Pf7 (worldwide samples) # unique SNV/indels:
Homozygous genotype calls only
| variant type | common | rare | doubleton | singleton |
|---|---|---|---|---|
| synonymous | 1 | 10 | 2 | 10 |
| disruptive | 2 | 9 | 4 | 17 |
| missense | 2 | 9 | 4 | 12 |
Any inclusion in genotype call
| variant type | common | rare | doubleton | singleton |
|---|---|---|---|---|
| synonymous | 2 | 15 | 8 | 12 |
| disruptive | 3 | 28 | 23 | 43 |
| missense | 3 | 17 | 19 | 25 |
PlasmoDB Total SNPs: 31
Non-coding: 23 | Synonymous: 6 | Nonsynonymous: 2 | Stop Codon: 0
| PMID | Title | Authors | DOI |
|---|---|---|---|
| 9804551 | Chromosome 2 sequence of the human malaria parasite Plasmodium falciparum. | Gardner MJ, Tettelin H, ..., Hoffman SL | 10.1126/science.282.5391.1126 |
| 12368864 | Genome sequence of the human malaria parasite Plasmodium falciparum. | Gardner MJ, Hall N, ..., Barrell B | 10.1038/nature01097 |
| 12368868 | Sequence of Plasmodium falciparum chromosomes 2, 10, 11 and 14. | Gardner MJ, Shallom SJ, ..., Fraser CM | 10.1038/nature01094 |
| 26133662 | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenicdisorders with dystroglycanopathies | Belaya K, Rodriguez Cruz PM, ..., Beeson D | 10.1093/brain/awv185 |
| 35327592 | Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity andAlg13-Alg14 Complex Formation and Expanding the Phenotypic Variability ofALG13-CDG | Mitusinska K, Gora A, ..., Jezela-Stanek A | 10.3390/biom12030398 |
| 36200043 | An in vitro assay for enzymatic studies on human ALG13/14 heterodimericUDP-N-acetylglucosamine transferase | Wang CD, Xu S, ..., Gao XD | 10.3389/fcell.2022.1008078 |
| 36835142 | Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35Genes-A Comprehensive Review | Ohno K, Ohkawara B, ..., Engel AG | 10.3390/ijms24043730 |
| 32730754 | Determinants of Endoplasmic Reticulum-to-Lipid Droplet Protein Targeting | Olarte MJ, Kim S, ..., Walther TC | 10.1016/j.devcel.2020.07.001 |
| 33751823 | A novel ALG14 missense variant in an alive child with myopathy, epilepsy, andprogressive cerebral atrophy | Palombo F, Piccolo B, ..., Carelli V | 10.1002/ajmg.a.62153 |
| 30221345 | Genomic screening in rare disorders: New mutations and phenotypes, highlightingALG14 as a novel cause of severe intellectual disability | Kvarnung M, Taylan F, ..., Lundberg ES | 10.1111/cge.13448 |
| 29892917 | Congenital Myasthenic Syndromes in 2018 | Engel AG | 10.1007/s11910-018-0852-4 |
| 28733338 | Early and lethal neurodegeneration with myasthenic and myopathic features: A newALG14-CDG | Schorling DC, Rost S, ..., Kirschner J | 10.1212/WNL.0000000000004234 |
| 31369641 | SNV discovery and functional candidate gene identification for milk compositionbased on whole genome resequencing of Holstein bulls with extremely high and lowbreeding values | Lin S, Zhang H, ..., Sun D | 10.1371/journal.pone.0220629 |
| 32324286 | Phenotypic and genotypic features of a large kindred with a germline AIP variant | Dal J, Nielsen EH, ..., Jorgensen JOL | 10.1111/cen.14207 |
| 27492357 | The multiple evolutionary origins of the eukaryotic N-glycosylation pathway | Lombard J | 10.1186/s13062-016-0137-2 |
| 26870666 | Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness | Evangelista T, Hanna M, Lochmuller H | 10.3233/JND-150098 |
| 34908252 | Genetic defects are common in myopathies with tubular aggregates | Gang Q, Bettencourt C, ..., Houlden H | 10.1002/acn3.51477 |
| 36060529 | Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole MassAnalyzers for Congenital Disorders of Glycosylation | Wada Y, Okamoto N | 10.5702/massspectrometry.A0103 |
| 35394422 | Agl24 is an ancient archaeal homolog of the eukaryotic N-glycan chitobiosesynthesis enzymes | Meyer BH, Adam PS, ..., Dorfmueller HC | 10.7554/eLife.67448 |
| 34971077 | The longest reported sibling survivors of a severe form of congenital myasthenicsyndrome with the ALG14 pathogenic variant | Katata Y, Uneoka S, ..., Kure S | 10.1002/ajmg.a.62629 |
| 31449669 | Trouble at the junction: When myopathy and myasthenia overlap | Nicolau S, Kao JC, Liewluck T | 10.1002/mus.26676 |
| 34602496 | A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: AnInternational Effort | Megarbane A, Bizzari S, ..., Urtizberea JA | 10.3233/JND-210652 |
| 20301347 | Congenital Myasthenic Syndromes Overview | Abicht A, Muller JS, Lochmuller H |