Human Gene SF3B1 (ENST00000335508.11_8) from GENCODE V47lift37
  Description: splicing factor 3b subunit 1, transcript variant 1 (from RefSeq NM_012433.4)
Gencode Transcript: ENST00000335508.11_8
Gencode Gene: ENSG00000115524.17_9
Transcript (Including UTRs)
   Position: hg19 chr2:198,254,508-198,299,752 Size: 45,245 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr2:198,257,027-198,299,723 Size: 42,697 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:198,254,508-198,299,752)mRNA (may differ from genome)Protein (1304 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SF3B1_HUMAN
DESCRIPTION: RecName: Full=Splicing factor 3B subunit 1; AltName: Full=Pre-mRNA-splicing factor SF3b 155 kDa subunit; Short=SF3b155; AltName: Full=Spliceosome-associated protein 155; Short=SAP 155;
FUNCTION: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.
SUBUNIT: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B155, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125.Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). SF3B1 interacts directly with the splicing factor U2AF. Phosphorylated form interacts with PPP1R8.
SUBCELLULAR LOCATION: Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the cytoplasm.
PTM: Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis.
SIMILARITY: Belongs to the SF3B1 family.
SIMILARITY: Contains 11 HEAT repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SF3B1
Diseases sorted by gene-association score: myelodysplastic syndrome* (307), acquired idiopathic sideroblastic anemia* (247), uveal melanoma* (22)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 95.16 RPKM in Spleen
Total median expression: 2616.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.6029-0.124 Picture PostScript Text
3' UTR -657.802519-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR015016 - SF3b_su1

Pfam Domains:
PF08920 - Splicing factor 3B subunit 1

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2F9D - X-ray MuPIT 2F9J - X-ray MuPIT 2FHO - NMR MuPIT 2PEH - X-ray MuPIT 3LQV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75533
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000375 RNA splicing, via transesterification reactions
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0045815 positive regulation of gene expression, epigenetic

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005686 U2 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0016607 nuclear speck
GO:0034693 U11/U12 snRNP
GO:0071004 U2-type prespliceosome
GO:0071005 U2-type precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  LF317715 - JP 2014500723-A/125218: Polycomb-Associated Non-Coding RNAs.
AL137410 - Homo sapiens mRNA; cDNA DKFZp434M052 (from clone DKFZp434M052); partial cds.
AF070540 - Homo sapiens clone 24647 putative nuclear protein mRNA, partial cds.
AF054284 - Homo sapiens spliceosomal protein SAP 155 mRNA, complete cds.
LF317717 - JP 2014500723-A/125220: Polycomb-Associated Non-Coding RNAs.
JD354120 - Sequence 335144 from Patent EP1572962.
JD248790 - Sequence 229814 from Patent EP1572962.
JD435709 - Sequence 416733 from Patent EP1572962.
LF317718 - JP 2014500723-A/125221: Polycomb-Associated Non-Coding RNAs.
BC172813 - Synthetic construct Homo sapiens clone IMAGE:9094299 splicing factor 3b, subunit 1 isoform 1 (SF3B1) gene, partial cds.
LF317719 - JP 2014500723-A/125222: Polycomb-Associated Non-Coding RNAs.
LF317721 - JP 2014500723-A/125224: Polycomb-Associated Non-Coding RNAs.
LF317723 - JP 2014500723-A/125226: Polycomb-Associated Non-Coding RNAs.
LF317725 - JP 2014500723-A/125228: Polycomb-Associated Non-Coding RNAs.
LF317728 - JP 2014500723-A/125231: Polycomb-Associated Non-Coding RNAs.
BC172812 - Synthetic construct Homo sapiens clone IMAGE:9094298 splicing factor 3b, subunit 1 isoform 1 (SF3B1) gene, partial cds.
LF317730 - JP 2014500723-A/125233: Polycomb-Associated Non-Coding RNAs.
BC172216 - Synthetic construct Homo sapiens clone IMAGE:9094297 splicing factor 3b, subunit 1 isoform 1 (SF3B1) gene, partial cds.
LF317732 - JP 2014500723-A/125235: Polycomb-Associated Non-Coding RNAs.
AK308122 - Homo sapiens cDNA, FLJ98070.
LF317733 - JP 2014500723-A/125236: Polycomb-Associated Non-Coding RNAs.
LF317734 - JP 2014500723-A/125237: Polycomb-Associated Non-Coding RNAs.
BC039020 - Homo sapiens, Similar to splicing factor 3b, subunit 1, 155 kDa, clone IMAGE:6043857, mRNA.
BC056155 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:3908845), partial cds.
LF317735 - JP 2014500723-A/125238: Polycomb-Associated Non-Coding RNAs.
LF317736 - JP 2014500723-A/125239: Polycomb-Associated Non-Coding RNAs.
LF317737 - JP 2014500723-A/125240: Polycomb-Associated Non-Coding RNAs.
LF317738 - JP 2014500723-A/125241: Polycomb-Associated Non-Coding RNAs.
BC064335 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:3870300).
BC107883 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:6673680), partial cds.
BC015530 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:3913474), partial cds.
BC029418 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:4250539), partial cds.
LF317739 - JP 2014500723-A/125242: Polycomb-Associated Non-Coding RNAs.
LF317740 - JP 2014500723-A/125243: Polycomb-Associated Non-Coding RNAs.
AK057684 - Homo sapiens cDNA FLJ33122 fis, clone TRACH2001428, highly similar to Rattus norvegicus strain Sprague-Dawley spliceosomal protein SAP155 mRNA.
LF317743 - JP 2014500723-A/125246: Polycomb-Associated Non-Coding RNAs.
LF317745 - JP 2014500723-A/125248: Polycomb-Associated Non-Coding RNAs.
AK290470 - Homo sapiens cDNA FLJ76385 complete cds, highly similar to Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 2, mRNA.
LF317746 - JP 2014500723-A/125249: Polycomb-Associated Non-Coding RNAs.
AF086296 - Homo sapiens full length insert cDNA clone ZD50B08.
BC046140 - Homo sapiens splicing factor 3b, subunit 1, 155kDa, mRNA (cDNA clone IMAGE:5755022).
LF383605 - JP 2014500723-A/191108: Polycomb-Associated Non-Coding RNAs.
AK294851 - Homo sapiens cDNA FLJ57368 complete cds, highly similar to Splicing factor 3B subunit 1.
LF317750 - JP 2014500723-A/125253: Polycomb-Associated Non-Coding RNAs.
MA619182 - JP 2018138019-A/191108: Polycomb-Associated Non-Coding RNAs.
MA553292 - JP 2018138019-A/125218: Polycomb-Associated Non-Coding RNAs.
MA553294 - JP 2018138019-A/125220: Polycomb-Associated Non-Coding RNAs.
MA553295 - JP 2018138019-A/125221: Polycomb-Associated Non-Coding RNAs.
MA553296 - JP 2018138019-A/125222: Polycomb-Associated Non-Coding RNAs.
MA553298 - JP 2018138019-A/125224: Polycomb-Associated Non-Coding RNAs.
MA553300 - JP 2018138019-A/125226: Polycomb-Associated Non-Coding RNAs.
MA553302 - JP 2018138019-A/125228: Polycomb-Associated Non-Coding RNAs.
MA553305 - JP 2018138019-A/125231: Polycomb-Associated Non-Coding RNAs.
MA553307 - JP 2018138019-A/125233: Polycomb-Associated Non-Coding RNAs.
MA553309 - JP 2018138019-A/125235: Polycomb-Associated Non-Coding RNAs.
MA553310 - JP 2018138019-A/125236: Polycomb-Associated Non-Coding RNAs.
MA553311 - JP 2018138019-A/125237: Polycomb-Associated Non-Coding RNAs.
MA553312 - JP 2018138019-A/125238: Polycomb-Associated Non-Coding RNAs.
MA553313 - JP 2018138019-A/125239: Polycomb-Associated Non-Coding RNAs.
MA553314 - JP 2018138019-A/125240: Polycomb-Associated Non-Coding RNAs.
MA553315 - JP 2018138019-A/125241: Polycomb-Associated Non-Coding RNAs.
MA553316 - JP 2018138019-A/125242: Polycomb-Associated Non-Coding RNAs.
MA553317 - JP 2018138019-A/125243: Polycomb-Associated Non-Coding RNAs.
MA553320 - JP 2018138019-A/125246: Polycomb-Associated Non-Coding RNAs.
MA553322 - JP 2018138019-A/125248: Polycomb-Associated Non-Coding RNAs.
MA553323 - JP 2018138019-A/125249: Polycomb-Associated Non-Coding RNAs.
MA553327 - JP 2018138019-A/125253: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75533 (Reactome details) participates in the following event(s):

R-HSA-5250947 B-WICH complex binds rDNA promoter
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-75080 Formation of AT-AC A complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-5250930 B-WICH recruits histone acetyltransferases
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-75081 Formation of AT-AC B Complex
R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage
R-HSA-75079 Formation of AT-AC C complex
R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-72172 mRNA Splicing
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-74160 Gene expression (Transcription)
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: E9PCH3, ENST00000335508.1, ENST00000335508.10, ENST00000335508.2, ENST00000335508.3, ENST00000335508.4, ENST00000335508.5, ENST00000335508.6, ENST00000335508.7, ENST00000335508.8, ENST00000335508.9, NM_012433, O75533, SAP155 , SF3B1 , SF3B1_HUMAN, uc317uhc.1, uc317uhc.2
UCSC ID: ENST00000335508.11_8
RefSeq Accession: NM_012433.4
Protein: O75533 (aka SF3B1_HUMAN or S3B1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.