PUF60 (poly(U) binding splicing factor 60)

2012-11-01  

Identity

HGNC
PUF60
LOCATION
8q24.3
LOCUSID
22827
ALIAS
FIR,RoBPI,SIAHBP1,VRJS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22827
MIM: 604819
HGNC: 17042
Ensembl: ENSG00000179950

Variants:

dbSNP: 22827
ClinVar: 22827
TCGA: ENSG00000179950
COSMIC: PUF60

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179950ENST00000313352Q9UHX1
ENSG00000179950ENST00000349157Q9UHX1
ENSG00000179950ENST00000453551Q9UHX1
ENSG00000179950ENST00000456095Q9UHX1
ENSG00000179950ENST00000526459E9PQ56
ENSG00000179950ENST00000526683Q9UHX1
ENSG00000179950ENST00000527197Q9UHX1
ENSG00000179950ENST00000527744H0YEM1
ENSG00000179950ENST00000529999E9PN18
ENSG00000179950ENST00000531897E9PMU7
ENSG00000179950ENST00000532884H0YCP8
ENSG00000179950ENST00000533162E9PL19

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

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

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
383967302024Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.0
383967302024Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.0
373032782023PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.2
376827092023PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C.2
373032782023PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.2
376827092023PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C.2
363358692022PUF60 promotes glioblastoma progression through regulation of EGFR stability.3
363672782022The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.2
363358692022PUF60 promotes glioblastoma progression through regulation of EGFR stability.3
363672782022The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.2
330618122020Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase.4
332531912020Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60.3
330618122020Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase.4
332531912020Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60.3
289902762018Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.20

Citation

Dessen P

PUF60 (poly(U) binding splicing factor 60)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52933/favicon/gene-fusions/js/gene-explorer/