Poly-U-Binding Splicing Factor, 60-Kd

Alternative Names

  • Puf60
  • Fuse-Binding Protein-Interacting Repressor
  • Fir
  • Fbp-Interacting Repressor
  • Siah-Binding Protein 1
  • Siahbp1

Associated Diseases

Verheij Syndrome
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OMIM Number

604819

NCBI Gene ID

22827

Uniprot ID

Q9UHX1

Length

12,972 bases

No. of Exons

14

No. of isoforms

6

Protein Name

Poly(U)-binding-splicing factor PUF60

Molecular Mass

59875 Da

Amino Acid Count

559

Genomic Location

chr8:143,816,344-143,829,315

Gene Map Locus
8q24.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_078480.3:c.24+1G>C Saudi ArabiaNC_000008.11:g.143829279C>GUncertain SignificanceLikely PathogenicVerheij SyndromeNG_033879.1:g.5108G>C; NM_078480.3:c.24+1G>C1064795388599204
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