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MBNL1
Description
muscleblind like splicing regulator 1
Image
GO Annotations
Cellular Component
Nucleus
Nucleoplasm
Cytoplasm
Cytosol
Cytoplasmic Stress Granule
Molecular Function
RNA Binding
Double-stranded RNA Binding
Protein Binding
Zinc Ion Binding
Metal Ion Binding
Biological Process
In Utero Embryonic Development
MRNA Processing
Nervous System Development
RNA Splicing
Embryonic Limb Morphogenesis
Regulation Of RNA Splicing
Myoblast Differentiation
Pathways
Drugs
Diseases
GWAS
Apolipoprotein A1 levels (
32203549
)
Appendicular lean mass (
33097823
)
Blond vs. brown/black hair color (
30531825
)
End-stage renal disease (
29885931
)
Fasting glucose (
34059833
)
HDL cholesterol (
30275531
)
Heel bone mineral density (
30598549
)
Infantile hypertrophic pyloric stenosis (
22306654
)
Liver enzyme levels (alanine transaminase) (
33972514
)
Male-pattern baldness (
27182965
)
Prostate cancer (
29892016
)
Type 2 diabetes (
30054458
30297969
32499647
)
Type 2 diabetes or prostate cancer (pleiotropy) (
33290408
)
White blood cell count (
32888494
)
Interacting Genes
21 interacting genes:
ABI3BP
AEN
APP
BCAS2
BIN1
CEBPA
DAB1
DMRTB1
FBXO7
IDH3A
ITSN2
PKM
PRPF39
QKI
RBFOX2
RBPMS
RPL21
SNRPA
TLE5
UBC
ZNHIT3
Entrez ID
4154
HPRD ID
07355
Ensembl ID
ENSG00000152601
Uniprot IDs
A0A0A0MQX8
C9JP00
Q86VM6
Q9NR56
PDB IDs
3D2N
3D2Q
3D2S
5U6H
5U6L
5U9B
Enriched GO Terms of Interacting Partners
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Regulation Of Astrocyte Differentiation
RNA Processing
Nucleus
RNA Splicing
Regulation Of Glial Cell Differentiation
Regulation Of Calcium Ion Transmembrane Transport Via High Voltage-gated Calcium Channel
Regulation Of Gliogenesis
MRNA Binding
MRNA Processing
U1 SnRNP
Negative Regulation Of Cell Development
Negative Regulation Of Blood Circulation
Regulation Of MRNA Splicing, Via Spliceosome
Negative Regulation Of Hemopoiesis
Positive Regulation Of Glial Cell Differentiation
Synaptic Vesicle Endocytosis
Lipid Tube
Positive Regulation Of Developmental Process
Negative Regulation Of Ventricular Cardiac Muscle Cell Action Potential
Amyloid-beta Complex
Growth Cone Lamellipodium
Regulation Of Response To Calcium Ion
Amylin Binding
Positive Regulation Of Toll Signaling Pathway
RNA Metabolic Process
RNA Polymerase I Transcription Regulatory Region Sequence-specific DNA Binding
Cell-cell Adhesion Involved In Neuronal-glial Interactions Involved In Cerebral Cortex Radial Glia Guided Migration
Nucleic Acid Binding
MRNA Metabolic Process
Regulation Of MRNA Processing
Internal N(7)-methylguanine-containing RNA Reader Activity
Glial Cytoplasmic Inclusion
Classical Lewy Body
Lewy Body Corona
Lewy Neurite
Presynaptic Endocytosis
Vesicle
Dendrite Development
Macrophage Differentiation
Regulation Of RNA Splicing
Regulation Of Neuron Differentiation
RNA Binding
Regulation Of DNA-templated Transcription
Regulation Of RNA Biosynthetic Process
Regulation Of Amyloid Precursor Protein Catabolic Process
Lipid Tube Assembly
Negative Regulation Of Cardiac Muscle Cell Contraction
Negative Regulation Of Multicellular Organismal Process
Acetylcholine Receptor Activator Activity
Lipoprotein Particle
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