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MLO Information
Factor Information
Disease information
Description from paper
Mutation, Expression change and PTM of the factor
Related Small Molecules
MLO information
MLO Phase separation
Class LLPS
Synonyms Phase transition, Liquid-liquid phase separation
Factor information
Factor type protein
Factor name HNRNPDL
NCBI Gene ID 9987
UniProt ID O14979
Disease information
Classification other diseases
Disease Autosomal dominant limb-girdle muscular dystrophy type 3
More Disease Information
Disease Autosomal dominant limb-girdle muscular dystrophy type 3
Disease Ontology DOID:0110306
MeSH -
ICD-10-CM G71.0
OMIM
CLOSE
Description from paper
MLO change Size: - Number: - Assembly: -
Dynamic: - Others: -
Description: -
Publication note Alternative splicing (AS) controls the phase separation of hnRNPDL,as well as the size and dynamics of its nuclear complexes,its nucleus-cytoplasm shuttling,and amyloidogenicity. Mutation of the highly conserved D378 in the disordered C-terminal prion-like domain of hnRNPDL causes limb-girdle muscular dystrophy 1G. D378H/N disease mutations impact hnRNPDL assembly properties,accelerating aggregation and dramatically reducing the protein solubility in the muscle of Drosophila,suggesting a genetic loss-of-function mechanism for this muscular disorder.
Organism Homo sapiens,Drosophila Cell line or tissue HeLa,Drosophila
Experiment evidence Direct experiment Reference 31995753 (2020-01-28)
In vivo PS evidence FRAP: Yes 1,6-hexa treatment: Yes Spherical shape: Yes
Fusion&Fission: No PS role: Client
Mutation, Expression change and PTM of the factor
Mutation p.Asp378His,p.Asp378Asn Expression change -
PTM Position Residue Modification Modifying enzyme
- - -
Description Mutation: hnRNPDL Phase Separation Is Regulated by Alternative Splicing and Disease-Causing Mutations Accelerate Its Aggregation
Expression change: -
PTM: -
Drugs from DrugBank -
Molecules from Binding database(PubChem CID) -
Molecules from PDBBind -
Interference Note -
Protein phase separation related sequence features
see detailed information in PhaSePerd O14979
Pscore overall score 16.83 PSPer 0.59
catGRANULE overall score 2.09 R+Y 0.062461538500000004

Chao Hou, Haotai Xie, Yang Fu, Yao Ma, Tingting Li. MloDisDB: A manually curated DataBase of the relations between MembraneLess Organelles and DISeases