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SF3B1
HPA
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  • SF3B1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SF3B1
Synonyms Hsh155, Prp10, PRPF10, SAP155, SF3b155
Gene descriptioni

Full gene name according to HGNC.

Splicing factor 3b subunit 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q33.1
Chromosome location (bp) 197388515 - 197435079
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

4
Ensembl ENSG00000115524 (version 109)
Entrez gene 23451
HGNC HGNC:10768
UniProt O75533 (UniProt - Evidence at protein level)
neXtProt NX_O75533
GeneCards SF3B1
Antibodypedia SF3B1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs 1, 2, 3, 4. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing 5, 6. Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA 7. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA 8. May also be involved in the assembly of the 'E' complex 9. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs 10, 11. Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

RNA-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

mRNA processing, mRNA splicing
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SF3B1-201
ENSP00000335321
ENST00000335508
O75533
[Direct mapping] Splicing factor 3B subunit 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005515 [protein binding]
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:0005730 [nucleolus]
GO:0006338 [chromatin remodeling]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0016607 [nuclear speck]
GO:0034693 [U11/U12 snRNP]
GO:0035066 [positive regulation of histone acetylation]
GO:0045943 [positive regulation of transcription by RNA polymerase I]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0045945 [positive regulation of transcription by RNA polymerase III]
GO:0071004 [U2-type prespliceosome]
GO:0071005 [U2-type precatalytic spliceosome]
GO:0071013 [catalytic step 2 spliceosome]
GO:0110016 [B-WICH complex]
GO:1903241 [U2-type prespliceosome assembly]
GO:1990935 [splicing factor binding]
Show all
1304 aa
145.8 kDa
No 2
SF3B1-204
ENSP00000402997
ENST00000414963
O75533
[Direct mapping] Splicing factor 3B subunit 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0000375 [RNA splicing, via transesterification reactions]
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005515 [protein binding]
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:0005730 [nucleolus]
GO:0006338 [chromatin remodeling]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0016607 [nuclear speck]
GO:0034693 [U11/U12 snRNP]
GO:0035066 [positive regulation of histone acetylation]
GO:0045943 [positive regulation of transcription by RNA polymerase I]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0045945 [positive regulation of transcription by RNA polymerase III]
GO:0071004 [U2-type prespliceosome]
GO:0071005 [U2-type precatalytic spliceosome]
GO:0071013 [catalytic step 2 spliceosome]
GO:0110016 [B-WICH complex]
GO:1903241 [U2-type prespliceosome assembly]
GO:1990935 [splicing factor binding]
Show all
144 aa
16 kDa
No 0
SF3B1-205
ENSP00000409435
ENST00000424674
H7C341
[Direct mapping] Splicing factor 3B subunit 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005681 [spliceosomal complex]
Show all
241 aa
27.2 kDa
No 0
SF3B1-211
ENSP00000419896
ENST00000487698
B4DGZ4
[Direct mapping] Splicing factor 3B subunit 1; cDNA FLJ57368, highly similar to Splicing factor 3B subunit 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Human disease related genes
   Cancers
   Cancers of haematopoietic and lymphoid tissues
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000245 [spliceosomal complex assembly]
GO:0003729 [mRNA binding]
GO:0016607 [nuclear speck]
Show all
154 aa
17.4 kDa
No 0

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