Gene: PUF60

Alternate names for this Gene: FIR|RoBPI|SIAHBP1|VRJS

Gene Summary: This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: poly(U) binding splicing factor 60

Type of Gene: protein-coding

rs4076877 in PUF60 gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs1554643473 in PUF60 gene and Dysmorphic features PMID 10606266 1999 PUF60: a novel U2AF65-related splicing activity.

PMID 17579712 2007 Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).

PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

PMID 10668799 2000 Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.

PMID 19464398 2009 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

PMID 27804958 2016 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28327570 2017 PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

rs1131692232 in PUF60 gene and Multiple congenital anomalies PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 10668799 2000 Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.

PMID 10606266 1999 PUF60: a novel U2AF65-related splicing activity.

PMID 17579712 2007 Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).

PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28327570 2017 PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PMID 19464398 2009 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 27804958 2016 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

rs398123001 in PUF60 gene and VERHEIJ SYNDROME PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.