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Aliases for SF3B1 Gene

Aliases for SF3B1 Gene

  • Splicing Factor 3b Subunit 1 2 3 5
  • Splicing Factor 3b, Subunit 1, 155kDa 2 3
  • Spliceosome-Associated Protein 155 3 4
  • SF3b155 3 4
  • SAP155 3 4
  • Pre-MRNA Splicing Factor SF3b, 155 KDa Subunit 3
  • Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit 4
  • Splicing Factor 3b, Subunit 1, 155kD 2
  • Pre-MRNA Processing 10 3
  • SAP 155 4
  • Hsh155 3
  • PRPF10 3
  • PRP10 3
  • MDS 3

External Ids for SF3B1 Gene

Previous GeneCards Identifiers for SF3B1 Gene

  • GC02M196445
  • GC02M196969
  • GC02M198219
  • GC02M198459
  • GC02M198082
  • GC02M197964
  • GC02M198256
  • GC02M190109

Summaries for SF3B1 Gene

Entrez Gene Summary for SF3B1 Gene

  • 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]

GeneCards Summary for SF3B1 Gene

SF3B1 (Splicing Factor 3b Subunit 1) is a Protein Coding gene. Diseases associated with SF3B1 include Myelodysplastic Syndrome and Acquired Idiopathic Sideroblastic Anemia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and binding.

UniProtKB/Swiss-Prot for SF3B1 Gene

  • 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.

Gene Wiki entry for SF3B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SF3B1 Gene

Genomics for SF3B1 Gene

Regulatory Elements for SF3B1 Gene

Enhancers for SF3B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SF3B1 on UCSC Golden Path with GeneCards custom track

Promoters for SF3B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SF3B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SF3B1 Gene

Chromosome:
2
Start:
197,389,784 bp from pter
End:
197,435,091 bp from pter
Size:
45,308 bases
Orientation:
Minus strand

Genomic View for SF3B1 Gene

Genes around SF3B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SF3B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3B1 Gene

Proteins for SF3B1 Gene

  • Protein details for SF3B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75533-SF3B1_HUMAN
    Recommended name:
    Splicing factor 3B subunit 1
    Protein Accession:
    O75533
    Secondary Accessions:
    • E9PCH3

    Protein attributes for SF3B1 Gene

    Size:
    1304 amino acids
    Molecular mass:
    145830 Da
    Quaternary structure:
    • Interacts with SETX (PubMed:21700224). 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, SF3B5, SF3B6, PHF5A/SF3B14B, and DDX42. 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. Interacts with PQBP1. Interacts with RBM17. Interacts with RBM39. Interacts with SF3B6 (PubMed:11991638, PubMed:12105215, PubMed:12234937, PubMed:12738865, PubMed:15146077, PubMed:16432215, PubMed:16603771, PubMed:17589525, PubMed:21062891, PubMed:23512658, PubMed:24795046).

    Three dimensional structures from OCA and Proteopedia for SF3B1 Gene

    Alternative splice isoforms for SF3B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SF3B1 Gene

Proteomics data for SF3B1 Gene at MOPED

Post-translational modifications for SF3B1 Gene

  • Citrullinated by PADI4.
  • 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.
  • Ubiquitination at Lys 182, Lys 195, Lys 793, Lys 816, Lys 926, Lys 1014, Lys 1102, and Lys 1292
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SF3B1 (SF3B1)
  • Abcam antibodies for SAP155
  • Abcam antibodies for SF3B1

No data available for DME Specific Peptides for SF3B1 Gene

Domains & Families for SF3B1 Gene

Protein Domains for SF3B1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75533

UniProtKB/Swiss-Prot:

SF3B1_HUMAN :
  • Belongs to the SF3B1 family.
  • Contains 11 HEAT repeats.
Family:
  • Belongs to the SF3B1 family.
Similarity:
  • Contains 11 HEAT repeats.
genes like me logo Genes that share domains with SF3B1: view

No data available for Gene Families for SF3B1 Gene

Function for SF3B1 Gene

Molecular function for SF3B1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SF3B1: view

Human Phenotype Ontology for SF3B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SF3B1 Gene

MGI Knock Outs for SF3B1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SF3B1 Gene

Localization for SF3B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF3B1 Gene

Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SF3B1 Gene COMPARTMENTS Subcellular localization image for SF3B1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for SF3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005686 U2 snRNP IDA 11252167
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0034693 U11/U12 snRNP IDA 11252167
genes like me logo Genes that share ontologies with SF3B1: view

Pathways & Interactions for SF3B1 Gene

genes like me logo Genes that share pathways with SF3B1: view

Pathways by source for SF3B1 Gene

1 Cell Signaling Technology pathway for SF3B1 Gene
1 BioSystems pathway for SF3B1 Gene

SIGNOR curated interactions for SF3B1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for SF3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008380 RNA splicing TAS --
genes like me logo Genes that share ontologies with SF3B1: view

Drugs & Compounds for SF3B1 Gene

No Compound Related Data Available

Transcripts for SF3B1 Gene

Unigene Clusters for SF3B1 Gene

Splicing factor 3b, subunit 1, 155kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SF3B1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2:
SP3:
SP4: - - -
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b
SP1:
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SF3B1 Gene

GeneLoc Exon Structure for
SF3B1
ECgene alternative splicing isoforms for
SF3B1

Expression for SF3B1 Gene

mRNA expression in normal human tissues for SF3B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SF3B1 Gene

This gene is overexpressed in Tlymphocyte (8.3), Lymph node (7.5), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SF3B1 Gene



SOURCE GeneReport for Unigene cluster for SF3B1 Gene Hs.632554

genes like me logo Genes that share expression patterns with SF3B1: view

Protein tissue co-expression partners for SF3B1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SF3B1 Gene

Orthologs for SF3B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SF3B1 35
  • 95.25 (n)
  • 99.92 (a)
SF3B1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3B1 35
  • 95.55 (n)
  • 100 (a)
SF3B1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3b1 35
  • 93.02 (n)
  • 100 (a)
Sf3b1 16
Sf3b1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SF3B1 35
  • 99.82 (n)
  • 100 (a)
SF3B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sf3b1 35
  • 92.64 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia SF3B1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves SF3B1 35
  • 85.34 (n)
  • 99.46 (a)
SF3B1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3B1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sf3b1 35
  • 81.37 (n)
  • 95.45 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2599 35
zebrafish
(Danio rerio)
Actinopterygii sf3b1 35
  • 78.67 (n)
  • 94.47 (a)
wufb99f09 35
sf3b1 36
  • 94 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2807 37
  • 76 (a)
CG2807 35
  • 68.04 (n)
  • 81.15 (a)
CG2807 36
  • 77 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000178 35
  • 65.29 (n)
  • 81.61 (a)
worm
(Caenorhabditis elegans)
Secernentea T08A11.2 35
  • 65.2 (n)
  • 70.73 (a)
T08A11.2 36
  • 66 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSH155 36
  • 50 (a)
OneToOne
HSH155 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G64270 35
  • 66.61 (n)
  • 72.81 (a)
soybean
(Glycine max)
eudicotyledons Gma.1115 35
rice
(Oryza sativa)
Liliopsida Os.35337 35
Os02g0147300 35
  • 65.38 (n)
  • 72.27 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3352 35
corn
(Zea mays)
Liliopsida Zm.3656 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03042 35
  • 62.29 (n)
  • 69.61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp10 35
  • 62.82 (n)
  • 65.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.683 36
  • 78 (a)
OneToOne
Species with no ortholog for SF3B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SF3B1 Gene

ENSEMBL:
Gene Tree for SF3B1 (if available)
TreeFam:
Gene Tree for SF3B1 (if available)

Paralogs for SF3B1 Gene

(1) SIMAP similar genes for SF3B1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SF3B1: view

No data available for Paralogs for SF3B1 Gene

Variants for SF3B1 Gene

Sequence variations from dbSNP and Humsavar for SF3B1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs699318 -- 197,417,019(+) TTCTC(C/T)TTTCT intron-variant
rs699319 -- 197,417,052(+) ACGCT(A/C)GCTGG intron-variant
rs788017 -- 197,400,449(+) AAATT(A/T)AAAAA intron-variant
rs788018 -- 197,400,802(+) AAATT(A/G)CCCAT nc-transcript-variant, reference, synonymous-codon
rs788019 -- 197,402,219(+) CTATT(C/T)AGCCA intron-variant

Variation tolerance for SF3B1 Gene

Residual Variation Intolerance Score: 3.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.61% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for SF3B1 Gene

Disorders for SF3B1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SF3B1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
acquired idiopathic sideroblastic anemia
  • aisa
uveal melanoma
  • melanoma of uvea
setx
- elite association - COSMIC cancer census association via MalaCards
Search SF3B1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SF3B1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SF3B1
genes like me logo Genes that share disorders with SF3B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SF3B1 Gene

Publications for SF3B1 Gene

  1. Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis. (PMID: 9585501) Wang C. … Reed R. (Genes Dev. 1998) 2 3 4 23 67
  2. Dimerization and protein binding specificity of the U2AF homology motif of the splicing factor Puf60. (PMID: 18974054) Corsini L. … Sattler M. (J. Biol. Chem. 2009) 3 23
  3. Nuclear inhibitor of protein phosphatase-1 (NIPP1) directs protein phosphatase-1 (PP1) to dephosphorylate the U2 small nuclear ribonucleoprotein particle (snRNP) component, spliceosome-associated protein 155 (Sap155). (PMID: 18842582) Tanuma N. … Shima H. (J. Biol. Chem. 2008) 3 23
  4. Multiple U2AF65 binding sites within SF3b155: thermodynamic and spectroscopic characterization of protein-protein interactions among pre-mRNA splicing factors. (PMID: 16376933) Thickman K.R. … Kielkopf C.L. (J. Mol. Biol. 2006) 3 23
  5. The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site. (PMID: 16512921) de Graaf K. … Becker W. (BMC Biochem. 2006) 3 23

Products for SF3B1 Gene

Sources for SF3B1 Gene

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