InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PUF60

Summary

InnateDB Protein

IDBP-584457.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PUF60

Protein Name

poly-U binding splicing factor 60KDa

Synonyms

FIR; RoBPI; SIAHBP1; VRJS;

Species

Homo sapiens

Ensembl Protein

ENSP00000431960

InnateDB Gene

IDBG-39284 (PUF60)

Protein Structure

UniProt Annotation

Function

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 TROVE2. Binds to poly(U) RNA. {ECO:0000269PubMed:10606266, ECO:0000269PubMed:10882074, ECO:0000269PubMed:11239393, ECO:0000269PubMed:16452196, ECO:0000269PubMed:16628215, ECO:0000269PubMed:17579712}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:10668799, ECO:0000269PubMed:17579712}. Note=Colocalizes partially with TROVE2.

Disease Associations

Verheij syndrome (VRJS) [MIM:615583]: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. {ECO:0000269PubMed:24140112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. {ECO:0000269PubMed:10668799, ECO:0000269PubMed:16452196}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 113 experimentally validated interaction(s) in this database.

Experimentally validated
Total	113 [view]
Protein-Protein	112 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006397	mRNA processing
GO:0006915	apoptotic process
GO:0008380	RNA splicing