Human Gene SF3B6 (ENST00000233468.5_7) from GENCODE V47lift37
  Description: splicing factor 3b subunit 6 (from RefSeq NM_016047.4)
Gencode Transcript: ENST00000233468.5_7
Gencode Gene: ENSG00000115128.7_9
Transcript (Including UTRs)
   Position: hg19 chr2:24,290,456-24,299,196 Size: 8,741 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr2:24,290,632-24,299,099 Size: 8,468 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:24,290,456-24,299,196)mRNA (may differ from genome)Protein (125 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PM14_HUMAN
DESCRIPTION: RecName: Full=Pre-mRNA branch site protein p14; AltName: Full=SF3b 14 kDa subunit;
FUNCTION: Necessary for the splicing of pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively.
SUBUNIT: Component of the splicing factor SF3b complex. Interacts with SF3B1/SF3b155. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome.
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  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


+  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: 94.37 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2260.02 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 -22.5097-0.232 Picture PostScript Text
3' UTR -19.10176-0.109 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
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

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


ModBase Predicted Comparative 3D Structure on Q9Y3B4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0001825 blastocyst formation
GO:0006397 mRNA processing
GO:0008380 RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005684 U2-type spliceosomal complex
GO:0005686 U2 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  AF151868 - Homo sapiens CGI-110 protein mRNA, complete cds.
BC015463 - Homo sapiens splicing factor 3B, 14 kDa subunit, mRNA (cDNA clone MGC:8723 IMAGE:3914184), complete cds.
AK311118 - Homo sapiens cDNA, FLJ18160.
AK000621 - Homo sapiens cDNA FLJ20614 fis, clone KAT05403, highly similar to AF151868 Homo sapiens CGI-110 protein mRNA.
AF184213 - Homo sapiens ht006 protein mRNA, complete cds.
AF161523 - Homo sapiens HSPC175 mRNA, complete cds.
AK311908 - Homo sapiens cDNA, FLJ92174, Homo sapiens CGI-110 protein (CGI-110), mRNA.
JF432474 - Synthetic construct Homo sapiens clone IMAGE:100073695 splicing factor 3B, 14 kDa subunit (SF3B14) gene, encodes complete protein.
KJ893958 - Synthetic construct Homo sapiens clone ccsbBroadEn_03352 SF3B14 gene, encodes complete protein.
AB527769 - Synthetic construct DNA, clone: pF1KB5825, Homo sapiens AC008073.5 gene for pre-mRNA branch site protein p14, without stop codon, in Flexi system.
AF401310 - Homo sapiens pre-mRNA branch site protein p14 mRNA, complete cds.
AF147425 - Homo sapiens full length insert cDNA clone YP78C06.
JD510614 - Sequence 491638 from Patent EP1572962.
JD310273 - Sequence 291297 from Patent EP1572962.
DQ581903 - Homo sapiens piRNA piR-50015, complete sequence.

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

Protein Q9Y3B4 (Reactome details) participates in the following event(s):

R-HSA-75080 Formation of AT-AC A complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-72124 Formation of the Spliceosomal A 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-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-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-110, ENST00000233468.1, ENST00000233468.2, ENST00000233468.3, ENST00000233468.4, HSPC175, HT006, NM_016047, Q53TM1, Q9Y3B4, SAP14, SF3B14, SF3B14A, SF3B6_HUMAN, uc317dwz.1, uc317dwz.2
UCSC ID: ENST00000233468.5_7
RefSeq Accession: NM_016047.4
Protein: Q9Y3B4 (aka PM14_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.