CELF1 (CUGBP Elav-like family member 1)

2012-11-01  

Identity

HGNC
CELF1
LOCATION
11p11.2
LOCUSID
10658
ALIAS
BRUNOL2,CUG-BP,CUGBP,CUGBP1,EDEN-BP,NAB50,NAPOR,hNab50
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10658
MIM: 601074
HGNC: 2549
Ensembl: ENSG00000149187

Variants:

dbSNP: 10658
ClinVar: 10658
TCGA: ENSG00000149187
COSMIC: CELF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149187ENST00000310513Q92879
ENSG00000149187ENST00000358597Q92879
ENSG00000149187ENST00000361904Q92879
ENSG00000149187ENST00000395290Q92879
ENSG00000149187ENST00000395292Q92879
ENSG00000149187ENST00000525841E9PQK4
ENSG00000149187ENST00000526277F5H3J7
ENSG00000149187ENST00000526419E9PKA1
ENSG00000149187ENST00000528434E9PKU1
ENSG00000149187ENST00000528538F5H7M7
ENSG00000149187ENST00000530151E9PSH0
ENSG00000149187ENST00000531165G5EA30
ENSG00000149187ENST00000532048Q92879
ENSG00000149187ENST00000535982F5H0D8
ENSG00000149187ENST00000543178F5H4Y5

Expression (GTEx)

0
50
100
150
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
179367052007Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation.197
182431202008Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1.112
223557232012CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay.85
166012072006CUG-BP binds to RNA substrates and recruits PARN deadenylase.78
169467082006Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.77
206033242010CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.70
115648762001Molecular basis for impaired muscle differentiation in myotonic dystrophy.69
200514262010Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.63
205477562010Analysis of CUGBP1 targets identifies GU-repeat sequences that mediate rapid mRNA decay.63
190473692009SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing.47

Citation

Dessen P

CELF1 (CUGBP Elav-like family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52935/celf1