AlphaFold predicted structure
PUF60 · Q9UHX1
Mean pLDDT
67.9/ 100
Low
559 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)34%
- Low(50–70)9%
- Very low(< 50)34%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PUF60
Chr 8q24.3poly(U) binding splicing factor 60
- Aliases:
- FIR, SIAHBP1, RoBPI
- MANE:
- ENST00000526683.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOcular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedVACTERL-like phenotypes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
8q24.3 microdeletion syndrome
0.81intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
0.58neurodegenerative disease
0.53hereditary disease
0.53Intellectual disability
0.50syndromic intellectual disability
0.46dengue disease
0.37neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
0.27CHARGE syndrome
0.26Neurodevelopmental abnormality
0.26
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Poly(U)-binding-splicing factor PUF60
DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with RO60. Binds to poly(U) RNA