MBNL1 (muscleblind like splicing regulator 1)

2007-06-01  

Identity

HGNC
MBNL1
LOCATION
3q25.1
LOCUSID
4154
ALIAS
EXP,MBNL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4154
MIM: 606516
HGNC: 6923
Ensembl: ENSG00000152601

Variants:

dbSNP: 4154
ClinVar: 4154
TCGA: ENSG00000152601
COSMIC: MBNL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152601ENST00000282486Q9NR56
ENSG00000152601ENST00000282488A0A0A0MQX8
ENSG00000152601ENST00000324196Q9NR56
ENSG00000152601ENST00000324210Q9NR56
ENSG00000152601ENST00000355460Q9NR56
ENSG00000152601ENST00000357472Q9NR56
ENSG00000152601ENST00000459747C9J4T8
ENSG00000152601ENST00000460591C9JCX1
ENSG00000152601ENST00000463374Q9NR56
ENSG00000152601ENST00000464596H7C4T5
ENSG00000152601ENST00000465907Q9NR56
ENSG00000152601ENST00000478535H7C4Y1
ENSG00000152601ENST00000485509Q9NR56
ENSG00000152601ENST00000485910Q9NR56
ENSG00000152601ENST00000492948Q9NR56
ENSG00000152601ENST00000493459Q86VM6
ENSG00000152601ENST00000495875C9J7P7
ENSG00000152601ENST00000498502C9JP00
ENSG00000152601ENST00000545754Q9NR56

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387690282024Involvement of circRNA Regulators MBNL1 and QKI in the Progression of Esophageal Squamous Cell Carcinoma.0
387690282024Involvement of circRNA Regulators MBNL1 and QKI in the Progression of Esophageal Squamous Cell Carcinoma.0
365759422023MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.5
365759422023MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.5
344593722022The Regulatory Role of Both MBNL1 and MBNL1-AS1 in Several Common Cancers.9
360649392022The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in glioblastoma cells by encoding a novel protein NTRK2-243aa.5
362048782022MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.0
362172022022STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1 signaling promotes angiogenesis and tumor growth.8
365557882022Cognate RNA-Binding Modes by the Alternative-Splicing Regulator MBNL1 Inferred from Molecular Dynamics.1
344593722022The Regulatory Role of Both MBNL1 and MBNL1-AS1 in Several Common Cancers.9
360649392022The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in glioblastoma cells by encoding a novel protein NTRK2-243aa.5
362048782022MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.0
362172022022STAT3/miR-130b-3p/MBNL1 feedback loop regulated by mTORC1 signaling promotes angiogenesis and tumor growth.8
365557882022Cognate RNA-Binding Modes by the Alternative-Splicing Regulator MBNL1 Inferred from Molecular Dynamics.1
337893742021[Effect of long non-coding RNA MBNL1-AS1 expression on prognosis of acute myeloid leukemia patients].0

Citation

Dessen P

MBNL1 (muscleblind like splicing regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/44023/mbnl1-(muscleblind-like-splicing-regulator-1)