Homo sapiens Gene: SF3B1
Summary
InnateDB Gene IDBG-77902.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SF3B1
Gene Name splicing factor 3b, subunit 1, 155kDa
Synonyms Hsh155; MDS; PRP10; PRPF10; SAP155; SF3b155
Species Homo sapiens
Ensembl Gene ENSG00000115524
Encoded Proteins
splicing factor 3b, subunit 1, 155kDa
splicing factor 3b, subunit 1, 155kDa
splicing factor 3b, subunit 1, 155kDa
splicing factor 3b, subunit 1, 155kDa
splicing factor 3b, subunit 1, 155kDa
splicing factor 3b, subunit 1, 155kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:197389784-197435091
Strand Reverse strand
Band q33.1
Transcripts
ENST00000335508 ENSP00000335321
ENST00000409915 ENSP00000428820
ENST00000424674 ENSP00000409435
ENST00000414963 ENSP00000402997
ENST00000414174 ENSP00000392117
ENST00000479532
ENST00000496458
ENST00000462613
ENST00000468925
ENST00000470268
ENST00000482158
ENST00000487698 ENSP00000419896
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 171 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 171 [view]
Protein-Protein 168 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0005488 binding
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000375 RNA splicing, via transesterification reactions
GO:0000398 mRNA splicing, via spliceosome
GO:0008380 RNA splicing
GO:0009952 anterior/posterior pattern specification
GO:0010467 gene expression
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005689 U12-type spliceosomal complex
GO:0016607 nuclear speck
GO:0043231 intracellular membrane-bounded organelle
GO:0071013 catalytic step 2 spliceosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
mRNA Splicing - Major Pathway pathway
mRNA Splicing - Minor Pathway pathway
Processing of Capped Intron-Containing Pre-mRNA pathway
mRNA Splicing pathway
Gene Expression pathway
KEGG
Spliceosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.632554 Hs.639540 Hs.717413
RefSeq NM_001005526 NM_012433
HUGO
OMIM
CCDS CCDS33356 CCDS46479
HPRD 09281
IMGT
EMBL
GenPept
RNA Seq Atlas