SF3B1

This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Description

Splicing factor 3b subunit 1

Tissue specificity

Low tissue specificity

Subcell location

Nuclear speckles

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (197388515 - 197435079)

Ensembl ID

ENSG00000115524  (ver. 103.38)

Orthologs

Mouse Sf3b1: ENSMUSG00000025982

UniProt

O75533

neXtProt

NX_O75533

Human splice variants
Mouse splice variants

Protein structure